| scholarly article | Q13442814 |
| review article | Q7318358 |
| P50 | author | Huda Zoghbi | Q1633764 |
| Jennifer R Gatchel | Q47823264 | ||
| P2860 | cites work | A novel protein with RNA-binding motifs interacts with ataxin-2 | Q22254111 |
| The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription | Q22254119 | ||
| The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1) | Q22254580 | ||
| Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy | Q24290177 | ||
| Muscleblind proteins regulate alternative splicing | Q24299521 | ||
| Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins | Q24303938 | ||
| Ataxin 1, a SCA1 neurodegenerative disorder protein, is functionally linked to the silencing mediator of retinoid and thyroid hormone receptors | Q24316293 | ||
| SUMO modification of Huntingtin and Huntington's disease pathology | Q24324137 | ||
| Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island | Q24324761 | ||
| Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis | Q24338570 | ||
| FRAXE and mental retardation | Q24517881 | ||
| Altered synaptic plasticity in a mouse model of fragile X mental retardation | Q24530695 | ||
| Interaction of Huntington disease protein with transcriptional activator Sp1 | Q24537687 | ||
| Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity | Q27931763 | ||
| Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin | Q27935734 | ||
| Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes | Q28114892 | ||
| FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association | Q28115097 | ||
| Evidence that fragile X mental retardation protein is a negative regulator of translation | Q28117211 | ||
| RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1 | Q28140822 | ||
| Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin | Q28141695 | ||
| RNA leaching of transcription factors disrupts transcription in myotonic dystrophy | Q28189582 | ||
| Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease | Q28202050 | ||
| Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9 | Q28210917 | ||
| Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway | Q28236951 | ||
| Exon/intron structure of the human AF-4 gene, a member of the AF-4/LAF-4/FMR-2 gene family coding for a nuclear protein with structural alterations in acute leukaemia | Q28244456 | ||
| Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes | Q28249379 | ||
| Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia | Q28250989 | ||
| Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy | Q28257074 | ||
| Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease | Q28261987 | ||
| The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins | Q28268908 | ||
| Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome | Q28273791 | ||
| Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion | Q28275699 | ||
| Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene | Q28285882 | ||
| Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death | Q28287762 | ||
| RNA and microRNAs in fragile X mental retardation | Q28290772 | ||
| The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif | Q28348391 | ||
| Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy | Q28504484 | ||
| Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits | Q28505173 | ||
| The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome | Q28507736 | ||
| Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation | Q28510128 | ||
| Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation | Q28511494 | ||
| Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice | Q28586975 | ||
| Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease | Q28588314 | ||
| The fragile X mental retardation protein inhibits translation via interacting with mRNA | Q28588486 | ||
| A muscleblind knockout model for myotonic dystrophy | Q28592365 | ||
| Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice | Q28594828 | ||
| Impairment of the ubiquitin-proteasome system by protein aggregation | Q29614556 | ||
| The mGluR theory of fragile X mental retardation | Q29615060 | ||
| Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function | Q29616372 | ||
| Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome | Q29616495 | ||
| Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila | Q29616737 | ||
| Why is SCA12 different from other SCAs? | Q30881530 | ||
| Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS). | Q30988960 | ||
| Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. | Q32063419 | ||
| Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease | Q33292417 | ||
| Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. | Q33292483 | ||
| Disturbed Ca2+ signaling and apoptosis of medium spiny neurons in Huntington's disease. | Q33850154 | ||
| Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration | Q33854083 | ||
| An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) | Q33857850 | ||
| Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. | Q33887926 | ||
| Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates | Q33905067 | ||
| Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions | Q33914031 | ||
| Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. | Q33920052 | ||
| Glutamine repeats and neurodegeneration | Q33938576 | ||
| Histone deacetylase inhibitors reduce polyglutamine toxicity | Q33953013 | ||
| Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. | Q33968674 | ||
| Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy | Q34023072 | ||
| SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein | Q34083719 | ||
| A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. | Q34100492 | ||
| Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. | Q34121747 | ||
| Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy | Q34142078 | ||
| Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing | Q34142085 | ||
| Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. | Q34146206 | ||
| An unstable triplet repeat in a gene related to myotonic muscular dystrophy | Q34355359 | ||
| Identification of the gene FMR2, associated with FRAXE mental retardation | Q34385889 | ||
| Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome | Q34400166 | ||
| Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators | Q34439319 | ||
| Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder? | Q34446543 | ||
| Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease | Q34763178 | ||
| The ubiquitin proteasome system in neurodegenerative diseases: sometimes the chicken, sometimes the egg. | Q35558459 | ||
| Friedreich ataxia-update on pathogenesis and possible therapies | Q35613137 | ||
| Fragile X-related protein and VIG associate with the RNA interference machinery | Q35804262 | ||
| A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins | Q35804357 | ||
| Pathogenic RNA repeats: an expanding role in genetic disease | Q35885705 | ||
| Therapeutics development for triplet repeat expansion diseases | Q36277195 | ||
| Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. | Q38327720 | ||
| The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis | Q38328542 | ||
| The fragile X-related gene affects the crawling behavior of Drosophila larvae by regulating the mRNA level of the DEG/ENaC protein pickpocket1. | Q38339977 | ||
| Global impairment of the ubiquitin-proteasome system by nuclear or cytoplasmic protein aggregates precedes inclusion body formation. | Q40461698 | ||
| Cellular toxicity of polyglutamine expansion proteins: mechanism of transcription factor deactivation | Q40540661 | ||
| Modulating huntingtin half-life alters polyglutamine-dependent aggregate formation and cell toxicity | Q40556729 | ||
| Cell death triggered by polyglutamine-expanded huntingtin in a neuronal cell line is associated with degradation of CREB-binding protein | Q40682460 | ||
| Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. | Q40721588 | ||
| Transcription of the FMR1 gene in individuals with fragile X syndrome | Q40793010 | ||
| CREB-binding protein sequestration by expanded polyglutamine | Q40859094 | ||
| Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy | Q41041118 | ||
| A point mutation in the FMR-1 gene associated with fragile X mental retardation | Q41579799 | ||
| The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes | Q42796063 | ||
| Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice | Q43670927 | ||
| The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins | Q44092352 | ||
| Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy | Q44173664 | ||
| Aggregate formation inhibits proteasomal degradation of polyglutamine proteins. | Q44175807 | ||
| SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. | Q44307899 | ||
| Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice | Q44437509 | ||
| Disruption of Axonal Transport by Loss of Huntingtin or Expression of Pathogenic PolyQ Proteins in Drosophila | Q44607268 | ||
| Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport | Q44607270 | ||
| Histone Deacetylase Inhibition by Sodium Butyrate Chemotherapy Ameliorates the Neurodegenerative Phenotype in Huntington's Disease Mice | Q44619618 | ||
| Eukaryotic proteasomes cannot digest polyglutamine sequences and release them during degradation of polyglutamine-containing proteins | Q44833524 | ||
| Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy | Q44854729 | ||
| Proteasome degrades soluble expanded polyglutamine completely and efficiently | Q44944511 | ||
| Friedreich ataxia: the oxidative stress paradox | Q45198943 | ||
| Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation | Q45295822 | ||
| Huntingtin inclusions do not deplete polyglutamine-containing transcription factors in HD mice | Q45305847 | ||
| Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers | Q46124789 | ||
| Control of dendritic development by theDrosophila fragile X-relatedgene involves the small GTPase Rac1 | Q46237451 | ||
| Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. | Q46666276 | ||
| Drosophila atrophin homolog functions as a transcriptional corepressor in multiple developmental processes | Q47071704 | ||
| RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila | Q47071910 | ||
| Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function | Q47071944 | ||
| Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. | Q47906427 | ||
| Genetic mapping of a second myotonic dystrophy locus | Q47991794 | ||
| Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria | Q48047307 | ||
| Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice | Q48373570 | ||
| A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. | Q48567301 | ||
| Localization of the fragile X mental retardation 2 (FMR2) protein in mammalian brain. | Q51977854 | ||
| Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. | Q52034632 | ||
| Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. | Q52200997 | ||
| Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. | Q52560509 | ||
| Identification of genes that modify ataxin-1-induced neurodegeneration. | Q52584075 | ||
| Mechanisms of chaperone suppression of polyglutamine disease: selectivity, synergy and modulation of protein solubility in Drosophila. | Q52584268 | ||
| Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila. | Q52599760 | ||
| Ataxin-3 suppresses polyglutamine neurodegeneration in Drosophila by a ubiquitin-associated mechanism. | Q52656408 | ||
| Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy | Q71167717 | ||
| Molecular-clinical correlations in males with an expanded FMR1 mutation | Q71621187 | ||
| Increased levels of plasma malondialdehyde in Friedreich ataxia | Q73289030 | ||
| Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat | Q74281230 | ||
| Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy | Q74441599 | ||
| Disabled early recruitment of antioxidant defenses in Friedreich's ataxia | Q74599295 | ||
| Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women | Q74764200 | ||
| Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain | Q78155068 | ||
| Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons | Q80889062 | ||
| Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity | Q95721056 | ||
| P433 | issue | 10 | |
| P304 | page(s) | 743-755 | |
| P577 | publication date | 2005-10-01 | |
| P1433 | published in | Nature Reviews Genetics | Q1071824 |
| P1476 | title | Diseases of unstable repeat expansion: mechanisms and common principles | |
| P478 | volume | 6 |
| Q38721747 | (CCUG)n RNA toxicity in a Drosophila model of myotonic dystrophy type 2 (DM2) activates apoptosis. |
| Q34518248 | A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1. |
| Q35155993 | A Drosophila model of the neurodegenerative disease SCA17 reveals a role of RBP-J/Su(H) in modulating the pathological outcome |
| Q34215618 | A FRET-based screening assay for nucleic acid ligands. |
| Q60530744 | A Variable Polyglutamine Repeat Affects Subcellular Localization and Regulatory Activity of a ANGUSTIFOLIA Protein |
| Q33481643 | A comparative proteomic analysis of the simple amino acid repeat distributions in Plasmodia reveals lineage specific amino acid selection |
| Q52677435 | A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes. |
| Q90681960 | A game of hide and seq: Identification of parallel Y-STR evolution in deep-rooting pedigrees |
| Q34181368 | A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity. |
| Q44481847 | A polymorphic microsatellite repeat within the ECE-1c promoter is involved in transcriptional start site determination, human evolution, and Alzheimer's disease. |
| Q57174444 | A survey of recent unusual high-resolution DNA structures provoked by mismatches, repeats and ligand binding |
| Q27339179 | A universal mechanism ties genotype to phenotype in trinucleotide diseases |
| Q40603655 | AGG interruptions in (CGG)(n) DNA repeat tracts modulate the structure and thermodynamics of non-B conformations in vitro |
| Q39832548 | ATF3 plays a protective role against toxicity by N-terminal fragment of mutant huntingtin in stable PC12 cell line |
| Q34766996 | Absence of disturbed axonal transport in spinal and bulbar muscular atrophy |
| Q35207978 | Aggregation kinetics of interrupted polyglutamine peptides |
| Q36003663 | Alleviating neurodegeneration in Drosophila models of PolyQ diseases |
| Q37690821 | Amyloid oligomers: dynamics and toxicity in the cytosol and nucleus |
| Q36278310 | Amyotrophic lateral sclerosis: update and new developments. |
| Q38122143 | An innate twist between Crick's wobble and Watson-Crick base pairs |
| Q35642112 | An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene |
| Q91330234 | Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing |
| Q37824973 | Analyzing the aggregation of polyglutamine-expansion proteins and its modulation by molecular chaperones |
| Q36651700 | Androgen receptor polyglutamine repeat number: models of selection and disease susceptibility |
| Q38780007 | Androgen receptor-related diseases: what do we know? |
| Q34772134 | Anticipation in families with chronic lymphocytic leukemia and other lymphoproliferative disorders |
| Q36682695 | Aqueous Extract of Paeonia lactiflora and Paeoniflorin as Aggregation Reducers Targeting Chaperones in Cell Models of Spinocerebellar Ataxia 3 |
| Q37005257 | Assessment of Functional EST-SSR Markers (Sugarcane) in Cross-Species Transferability, Genetic Diversity among Poaceae Plants, and Bulk Segregation Analysis |
| Q51722447 | Ataxin active site determination using spectral distribution of electron ion interaction potentials of amino acids. |
| Q36583286 | Ataxin-3 phosphorylation decreases neuronal defects in spinocerebellar ataxia type 3 models |
| Q45297035 | Atomistic mechanisms of huntingtin N-terminal fragment insertion on a phospholipid bilayer revealed by molecular dynamics simulations |
| Q37935233 | Autophagy and polyglutamine diseases |
| Q34285681 | Avoidance of long mononucleotide repeats in codon pair usage |
| Q47237934 | Azadiradione Restores Protein Quality Control and Ameliorates the Disease Pathogenesis in a Mouse Model of Huntington's Disease |
| Q37694619 | Azadiradione ameliorates polyglutamine expansion disease in Drosophila by potentiating DNA binding activity of heat shock factor 1. |
| Q51671165 | BWtrs: A tool for searching for tandem repeats in DNA sequences based on the Burrows-Wheeler transform. |
| Q36436774 | Background-dependent effects of polyglutamine variation in the Arabidopsis thaliana gene ELF3. |
| Q37508198 | Beyond junk-variable tandem repeats as facilitators of rapid evolution of regulatory and coding sequences |
| Q38101493 | Brain activation of SIRT1: role in neuropathology |
| Q28085057 | C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases |
| Q79568360 | CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci |
| Q36594935 | CAG/CTG repeats alter the affinity for the histone core and the positioning of DNA in the nucleosome |
| Q51580141 | CHIP overexpression reduces mutant androgen receptor protein and ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model. |
| Q33281292 | CTG trinucleotide repeat "big jumps": large expansions, small mice |
| Q33537218 | CaV2.1 channelopathies |
| Q44256164 | Cancer incidence in patients with polyglutamine diseases: a population-based study in Sweden |
| Q80130614 | Case 12: my doctor says that I have ALS! |
| Q35875886 | Cause or Effect: Misregulation of microRNA Pathways in Neurodegeneration |
| Q36509063 | Cell-free cloning of highly expanded CTG repeats by amplification of dimerized expanded repeats |
| Q63359159 | Characterizing the Major Structural Variant Alleles of the Human Genome |
| Q37140745 | Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. |
| Q28285156 | Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy |
| Q36167056 | Coding Microsatellite Frameshift Mutations Accumulate in Atherosclerotic Carotid Artery Lesions: Evaluation of 26 Cases and Literature Review |
| Q36534978 | Coexistence of Huntington's disease and amyotrophic lateral sclerosis: a clinicopathologic study |
| Q57805478 | Coiled-coil structure-dependent interactions between polyQ proteins and Foxo lead to dendrite pathology and behavioral defects |
| Q36778181 | Comparative analyses of human single- and multilocus tandem repeats |
| Q45306884 | Comparative analysis of genetic modifiers in Drosophila points to common and distinct mechanisms of pathogenesis among polyglutamine diseases |
| Q24650948 | Comparative genomics and molecular dynamics of DNA repeats in eukaryotes |
| Q35286224 | Comparative genomics of the social amoebae Dictyostelium discoideum and Dictyostelium purpureum |
| Q24307380 | Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia |
| Q35071154 | Complex minisatellite rearrangements generated in the total or partial absence of Rad27/hFEN1 activity occur in a single generation and are Rad51 and Rad52 dependent. |
| Q55384242 | Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. |
| Q34572388 | Comprehensive variation discovery in single human genomes |
| Q47956508 | Constraints and consequences of the emergence of amino acid repeats in eukaryotic proteins |
| Q33637169 | Convergent transcription through a long CAG tract destabilizes repeats and induces apoptosis |
| Q38976458 | Convergent transcription through microsatellite repeat tracts induces cell death |
| Q34097811 | Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content |
| Q42140747 | Coupling transcriptional state to large-scale repeat expansions in yeast. |
| Q37958101 | Cross-functional E3 ligases Parkin and C-terminus Hsp70-interacting protein in neurodegenerative disorders. |
| Q27028008 | Current understanding of the role of microRNAs in spinocerebellar ataxias |
| Q26852087 | Cytosine modifications in neurodevelopment and diseases |
| Q52573641 | Cytosolic chaperonin prevents polyglutamine toxicity with altering the aggregation state. |
| Q33916335 | DNA dynamics is likely to be a factor in the genomic nucleotide repeats expansions related to diseases |
| Q36215972 | DNA mismatch repair complex MutSβ promotes GAA·TTC repeat expansion in human cells |
| Q37023903 | DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases |
| Q37601148 | DNAJB6 is a peptide-binding chaperone which can suppress amyloid fibrillation of polyglutamine peptides at substoichiometric molar ratios. |
| Q41821972 | De novo sequencing, assembly and analysis of the genome of the laboratory strain Saccharomyces cerevisiae CEN.PK113-7D, a model for modern industrial biotechnology |
| Q45300230 | Deficiency of Ube3a in Huntington's disease mice brain increases aggregate load and accelerates disease pathology |
| Q34477635 | Defining Genetic Factors That Modulate Intergenerational CAG Repeat Instability inDrosophila melanogaster |
| Q89146104 | Deregulation of RNA Metabolism in Microsatellite Expansion Diseases |
| Q51737120 | Design of Bivalent Nucleic Acid Ligands for Recognition of RNA-Repeated Expansion Associated with Huntington's Disease. |
| Q46065898 | Detection of long repeat expansions from PCR-free whole-genome sequence data |
| Q24307459 | Development and application of a DNA microarray-based yeast two-hybrid system |
| Q36378250 | Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6. |
| Q45304103 | Differential morphology and composition of inclusions in the R6/2 mouse and PC12 cell models of Huntington's disease. |
| Q34516066 | Direct and inverted repeats elicit genetic instability by both exploiting and eluding DNA double-strand break repair systems in mycobacteria |
| Q30409428 | Direct inhibition of Gcn5 protein catalytic activity by polyglutamine-expanded ataxin-7. |
| Q38107799 | Disease modeling and drug screening for neurological diseases using human induced pluripotent stem cells |
| Q39712232 | Disrupted transforming growth factor-beta signaling in spinal and bulbar muscular atrophy. |
| Q37982055 | Disruption of axonal transport in motor neuron diseases |
| Q33636403 | Disruption of nongenomic testosterone signaling in a model of spinal and bulbar muscular atrophy |
| Q28710312 | Dissecting the role of low-complexity regions in the evolution of vertebrate proteins |
| Q55402571 | Distribution and Structure of DM2 Repeat Tract Alleles in the German Population. |
| Q33460873 | Diverse effects of individual mismatch repair components on transcription-induced CAG repeat instability in human cells |
| Q36939612 | Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline |
| Q89976236 | Does DNA Methylation Matter in FSHD? |
| Q35130555 | Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli |
| Q36216036 | Dysfunction of the ubiquitin ligase Ube3a may be associated with synaptic pathophysiology in a mouse model of Huntington disease |
| Q36550804 | Dysregulated A to I RNA editing and non-coding RNAs in neurodegeneration |
| Q41822886 | Early and late events induced by polyQ-expanded proteins: identification of a common pathogenic property of polYQ-expanded proteins |
| Q33291754 | Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression |
| Q28590188 | Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration |
| Q30489322 | Effects of overexpression of huntingtin proteins on mitochondrial integrity |
| Q35168414 | Effects on murine behavior and lifespan of selectively decreasing expression of mutant huntingtin allele by supt4h knockdown |
| Q30450982 | Elongation kinetics of polyglutamine peptide fibrils: a quartz crystal microbalance with dissipation study |
| Q37289638 | Emerging pathogenic pathways in the spinocerebellar ataxias |
| Q33784026 | Endoplasmic reticulum stress in spinal and bulbar muscular atrophy: a potential target for therapy |
| Q41842676 | Energy landscapes of dynamic ensembles of rolling triplet repeat bulge loops: implications for DNA expansion associated with disease states |
| Q36573332 | Enriched environments, experience-dependent plasticity and disorders of the nervous system. |
| Q28264669 | Epigenetic boundaries of tumour suppressor gene promoters: the CTCF connection and its role in carcinogenesis |
| Q37695480 | Epigenetic changes and non-coding expanded repeats |
| Q35210734 | Epigenetic mechanisms and genome stability. |
| Q49668183 | Epigenetic profiles in polyglutamine disorders |
| Q38726913 | Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR. |
| Q35034856 | Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis. |
| Q36044701 | Evolution and function of CAG/polyglutamine repeats in protein-protein interaction networks. |
| Q51981983 | Evolutionary analysis of amino acid repeats across the genomes of 12 Drosophila species. |
| Q42818202 | Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease |
| Q48044131 | Expanded neurochemical profile in the early stage of Huntington disease using proton magnetic resonance spectroscopy |
| Q40262182 | Expanded polyglutamines impair synaptic transmission and ubiquitin-proteasome system in Caenorhabditis elegans |
| Q35891680 | Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy |
| Q51677346 | Exploration of CAG triplet repeat in nontranslated region of SCA12 gene. |
| Q37278485 | Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients |
| Q38928751 | Faulty splicing and cytoskeleton abnormalities in Huntington's disease |
| Q37048169 | Features of trinucleotide repeat instability in vivo |
| Q26850062 | Fibrillogenesis of huntingtin and other glutamine containing proteins |
| Q33374464 | Focal distortion of the nuclear envelope by huntingtin aggregates revealed by lamin immunostaining |
| Q38722643 | Formation and Structure of Wild Type Huntingtin Exon-1 Fibrils. |
| Q34519090 | Foxl2 function in ovarian development. |
| Q31055925 | Free-Energy Landscape of the Amino-Terminal Fragment of Huntingtin in Aqueous Solution |
| Q36107041 | From dynamic combinatorial 'hit' to lead: in vitro and in vivo activity of compounds targeting the pathogenic RNAs that cause myotonic dystrophy |
| Q38154940 | Fruitful research: drug target discovery for neurodegenerative diseases in Drosophila |
| Q42096577 | Functional Mechanisms of Microsatellite DNA in Eukaryotic Genomes. |
| Q36939767 | Gene Transfer of Brain-derived Neurotrophic Factor (BDNF) Prevents Neurodegeneration Triggered by FXN Deficiency |
| Q35565702 | Genes and pathways affected by CAG-repeat RNA-based toxicity in Drosophila |
| Q22337413 | Genetic disorders associated with macrocephaly |
| Q37325077 | Genetic testing for paediatric neurological disorders |
| Q27312679 | Genome-wide analysis of histidine repeats reveals their role in the localization of human proteins to the nuclear speckles compartment |
| Q41956960 | Genome-wide demethylation promotes triplet repeat instability independently of homologous recombination |
| Q28545035 | Genotype-phenotype correlation in Chinese patients with spinal and bulbar muscular atrophy |
| Q45922808 | Genotyping microsatellites in next-generation sequencing data. |
| Q36327420 | Glial S100B Positive Vacuoles In Purkinje Cells: Earliest Morphological Abnormality In SCA1 Transgenic Mice |
| Q42665345 | Global microsatellite content distinguishes humans, primates, animals, and plants |
| Q30379387 | Glutamine and Asparagine Side Chain Hyperconjugation-Induced Structurally Sensitive Vibrations. |
| Q38491580 | HRaP: database of occurrence of HomoRepeats and patterns in proteomes |
| Q45037399 | Heterogeneous nature and distribution of interruptions in dinucleotides may indicate the existence of biased substitutions underlying microsatellite evolution. |
| Q33323473 | High throughput screening for neurodegeneration and complex disease phenotypes |
| Q41062525 | High-throughput screen of natural product extracts in a yeast model of polyglutamine proteotoxicity. |
| Q79463864 | Highly constrained proteins contain an unexpectedly large number of amino acid tandem repeats |
| Q36599926 | Histone deacetylase inhibitors as therapeutics for polyglutamine disorders |
| Q38168763 | Human stem cell models of neurodegeneration: a novel approach to study mechanisms of disease development |
| Q45302284 | Huntingtin's critical cleavage |
| Q34319766 | Huntington's disease and its therapeutic target genes: a global functional profile based on the HD Research Crossroads database |
| Q37475977 | Identification and Structural Characterization of the N-terminal Amyloid Core of Orb2 isoform A. |
| Q52314325 | Identification of a Novel TCF4 Isoform in the Human Corneal Endothelium. |
| Q91773463 | Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia |
| Q79803452 | If it's not one thing, it's another |
| Q37577365 | Impact of bulge loop size on DNA triplet repeat domains: Implications for DNA repair and expansion |
| Q24626685 | Improved activities of CREB binding protein, heterogeneous nuclear ribonucleoproteins and proteasome following downregulation of noncoding hsromega transcripts help suppress poly(Q) pathogenesis in fly models |
| Q48825511 | In vivo assessment of riluzole as a potential therapeutic drug for spinocerebellar ataxia type 3. |
| Q28391815 | In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7 |
| Q24321324 | Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10 |
| Q30356984 | Influence of music on steroid hormones and the relationship between receptor polymorphisms and musical ability: a pilot study. |
| Q33760952 | Influence of the stability of a fused protein and its distance to the amyloidogenic segment on fibril formation |
| Q42058501 | Insights into structure, stability, and toxicity of monomeric and aggregated polyglutamine models from molecular dynamics simulations. |
| Q34074385 | Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43. |
| Q42081147 | Interactions between homopolymeric amino acids (HPAAs). |
| Q47351608 | Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions. |
| Q40271687 | JNK mediates pathogenic effects of polyglutamine-expanded androgen receptor on fast axonal transport |
| Q50336158 | Josephin domain-containing proteins from a variety of species are active de-ubiquitination enzymes |
| Q35968822 | Key Role of Amino Acid Repeat Expansions in the Functional Diversification of Duplicated Transcription Factors |
| Q35400754 | Lambda exonuclease digestion of CGG trinucleotide repeats. |
| Q33635450 | Large-scale analysis of tandem repeat variability in the human genome |
| Q34471805 | Large-scale screen for modifiers of ataxin-3-derived polyglutamine-induced toxicity in Drosophila |
| Q30498528 | Length polymorphism and head shape association among genes with polyglutamine repeats in the stalk-eyed fly, Teleopsis dalmanni |
| Q58801365 | Length variations within the retrotransposon of canine : correlating genotype with phenotype |
| Q37133999 | Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins |
| Q28469220 | Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model |
| Q35051262 | Location trumps length: polyglutamine-mediated changes in folding and aggregation of a host protein |
| Q33808904 | Long tract of untranslated CAG repeats is deleterious in transgenic mice |
| Q37801840 | Low-complexity sequences and single amino acid repeats: not just "junk" peptide sequences |
| Q41959721 | MICdb3.0: a comprehensive resource of microsatellite repeats from prokaryotic genomes |
| Q35561975 | MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals |
| Q33824924 | Mechanistic studies of hairpin to duplex conversion for trinucleotide repeat sequences |
| Q39693572 | Microsatellite instability in radiation-induced murine tumours; influence of tumour type and radiation quality |
| Q34188468 | Milestones in ataxia |
| Q38774203 | Mismatch repair enhances convergent transcription-induced cell death at trinucleotide repeats by activating ATR. |
| Q37764793 | Mitochondrial dysfunction in neurodegenerative diseases and cancer |
| Q28080022 | Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells |
| Q45858962 | Modeling and correction of structural variations in patient-derived iPSCs using CRISPR/Cas9. |
| Q27687330 | Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells. |
| Q38008851 | Modeling of autism genetic variations in mice: focusing on synaptic and microcircuit dysfunctions |
| Q37832902 | Modifiers and mechanisms of multi-system polyglutamine neurodegenerative disorders: lessons from fly models. |
| Q38818474 | Modulation of Molecular Chaperones in Huntington's Disease and Other Polyglutamine Disorders. |
| Q33643405 | Modulation of trinucleotide repeat instability by DNA polymerase β polymorphic variant R137Q. |
| Q35197096 | Molecular actions and therapeutic potential of lithium in preclinical and clinical studies of CNS disorders |
| Q27691417 | Molecular genetics and genetic testing in myotonic dystrophy type 1. |
| Q27303598 | Molecular mechanism of resolving trinucleotide repeat hairpin by helicases |
| Q36774733 | Molecular pathogenesis of spinocerebellar ataxia type 6. |
| Q33303421 | Molecules that target beta-amyloid |
| Q81556999 | Moving with Muscleblind |
| Q36686156 | Multiple pathways contribute to the pathogenesis of Huntington disease |
| Q39605747 | Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference |
| Q35013472 | Mutation patterns of amino acid tandem repeats in the human proteome |
| Q103806007 | Mutation-selection balance and compensatory mechanisms in tumour evolution |
| Q46323996 | N-terminal polyglutamine-containing fragments inhibit androgen receptor transactivation function |
| Q54480739 | Naratriptan mitigates CGRP1-associated motor neuron degeneration caused by an expanded polyglutamine repeat tract. |
| Q33881339 | Natural selection drives the accumulation of amino acid tandem repeats in human proteins. |
| Q30502208 | Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by the DAF-16 and HSF-1 pathways |
| Q34295237 | Neuronal SUMOylation: mechanisms, physiology, and roles in neuronal dysfunction |
| Q37166307 | Neuropathology and therapeutic intervention in spinal and bulbar muscular atrophy |
| Q51848462 | Neuroscience. Another reason to exercise. |
| Q42553221 | Non-LTR retrotransposons and microsatellites: Partners in genomic variation |
| Q37183984 | Non-coding RNAs in polyglutamine disorders: friend or foe? |
| Q36523588 | Non-coding RNAs in the nervous system |
| Q36872209 | Noncoding RNAs and RNA editing in brain development, functional diversification, and neurological disease |
| Q38866142 | Noncoding RNAs in protein clearance pathways: implications in neurodegenerative diseases |
| Q37746495 | Nuclear ataxias. |
| Q42585068 | Nucleation of protein aggregation kinetics as a basis for genotype-phenotype correlations in polyglutamine diseases. |
| Q34442152 | Nucleotide excision repair, mismatch repair, and R-loops modulate convergent transcription-induced cell death and repeat instability |
| Q92320717 | Outgroup Machine Learning Approach Identifies Single Nucleotide Variants in Noncoding DNA Associated with Autism Spectrum Disorder |
| Q90589930 | Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations |
| Q28593098 | Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis |
| Q34637225 | Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy (SBMA). |
| Q36759577 | Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy. |
| Q38472966 | Patterns of microsatellite evolution inferred from the Helianthus annuus (Asteraceae) transcriptome |
| Q38210865 | Polyglutamine (PolyQ) diseases: genetics to treatments. |
| Q37735565 | Polyglutamine diseases: where does toxicity come from? what is toxicity? where are we going? |
| Q34712305 | Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration |
| Q36834689 | Polyglutamine expansion in Drosophila: thermal stress and Hsp70 as selective agents |
| Q33291745 | Polyglutamine expansion mutation yields a pathological epitope linked to nucleation of protein aggregate: determinant of Huntington's disease onset. |
| Q33319615 | Polyglutamine genes interact to modulate the severity and progression of neurodegeneration in Drosophila |
| Q27026773 | Polyglutamine neurodegeneration: expanded glutamines enhance native functions |
| Q36967107 | Polyglutamine neurodegeneration: protein misfolding revisited. |
| Q30663550 | Polyglutamine toxicity in yeast induces metabolic alterations and mitochondrial defects |
| Q91646109 | Polymorphisms in the Bovine Tumour Necrosis Factor Receptor Type Two Gene (TNF-RII) and Cell Subpopulations Naturally Infected with Bovine Leukaemia Virus |
| Q55020670 | Population-specific genetic modification of Huntington's disease in Venezuela. |
| Q36195820 | Positive and strongly relaxed purifying selection drive the evolution of repeats in proteins |
| Q34983816 | Post-zygotic and inter-individual structural genetic variation in a presumptive enhancer element of the locus between the IL10Rβ and IFNAR1 genes |
| Q37180513 | Premutation allele pool in myotonic dystrophy type 2. |
| Q24622828 | ProRepeat: an integrated repository for studying amino acid tandem repeats in proteins |
| Q35221894 | Probing the Huntingtin 1-17 membrane anchor on a phospholipid bilayer by using all-atom simulations |
| Q35938639 | Profiles of low complexity regions in Apicomplexa. |
| Q33513958 | Progressive GAA.TTC repeat expansion in human cell lines |
| Q37553976 | Protein SUMOylation in neuropathological conditions. |
| Q92460166 | Proteomic and genomic signatures of repeat instability in cancer and adjacent normal tissues |
| Q60238099 | Q&A: repeat-containing proteins |
| Q36309073 | Quantitative connection between polyglutamine aggregation kinetics and neurodegenerative process in patients with Huntington's disease. |
| Q30224330 | RNA phase transitions in repeat expansion disorders |
| Q24562489 | RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention |
| Q28278448 | RNA toxicity is a component of ataxin-3 degeneration in Drosophila |
| Q52693518 | RNA-binding protein hoip accelerates polyQ-induced neurodegeneration in Drosophila. |
| Q36419060 | Rapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar Degeneration |
| Q37327574 | Rational design of antisense oligonucleotides targeting single nucleotide polymorphisms for potent and allele selective suppression of mutant Huntingtin in the CNS. |
| Q35741622 | Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia. |
| Q34549833 | Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration |
| Q47950726 | RepEx: repeat extractor for biological sequences |
| Q34543709 | Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders |
| Q35680075 | Repeat instability during DNA repair: Insights from model systems |
| Q34572017 | Repeat-encoded poly-Q tracts show statistical commonalities across species. |
| Q46273301 | Repetitive sequences in malaria parasite proteins. |
| Q47614563 | Rescue of ATXN3 neuronal toxicity in Caenorhabditiselegans by chemical modification of endoplasmic reticulum stress. |
| Q80186511 | Reversal of fortune |
| Q52575167 | Reversible disruption of dynactin 1-mediated retrograde axonal transport in polyglutamine-induced motor neuron degeneration. |
| Q36682494 | Role of DNA secondary structures in fragile site breakage along human chromosome 10 |
| Q85748009 | Role of dynamic and mitochondrial mutations in neurodegenerative diseases with ataxia: lower repeats and LNAs at multiple loci as alternative pathogenesis |
| Q39392243 | Role of recombination and replication fork restart in repeat instability |
| Q37989861 | Role of the ubiquitin-proteasome system in nervous system function and disease: using C. elegans as a dissecting tool |
| Q35941581 | Role of tissue transglutaminase type 2 in calbindin-D28k interaction with ataxin-1 |
| Q36931758 | Role of ubiquitin protein ligases in the pathogenesis of polyglutamine diseases. |
| Q30398587 | S-glutathionylation: from molecular mechanisms to health outcomes |
| Q42648594 | SCA8 CAG/CTG expansions, a tale of two TOXICities: a unique or common case? |
| Q35032489 | SIFT Indel: predictions for the functional effects of amino acid insertions/deletions in proteins |
| Q35680031 | SRS2 and SGS1 prevent chromosomal breaks and stabilize triplet repeats by restraining recombination |
| Q51315052 | SSRs as genetic markers in the human genome and their observable relationship to hereditary diseases. |
| Q42276830 | STRScan: targeted profiling of short tandem repeats in whole-genome sequencing data |
| Q58731583 | STRetch: detecting and discovering pathogenic short tandem repeat expansions |
| Q46324287 | Sedimentation Velocity Analysis with Fluorescence Detection of Mutant Huntingtin Exon 1 Aggregation in Drosophila melanogaster and Caenorhabditis elegans. |
| Q45300572 | Selection of behaviors and segmental coordination during larval locomotion is disrupted by nuclear polyglutamine inclusions in a new Drosophila Huntington's disease-like model |
| Q35468472 | Selective inhibition of MBNL1-CCUG interaction by small molecules toward potential therapeutic agents for myotonic dystrophy type 2 (DM2) |
| Q34520527 | Sequence length dictates repeated CAG folding in three-way junctions |
| Q40815198 | Sequence-based estimation of minisatellite and microsatellite repeat variability |
| Q22065738 | Sequencing and analysis of chromosome 1 of Eimeria tenella reveals a unique segmental organization |
| Q33594383 | Serines 13 and 16 are critical determinants of full-length human mutant huntingtin induced disease pathogenesis in HD mice |
| Q37090117 | Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice. |
| Q39648418 | Single-stranded DNA-binding protein in vitro eliminates the orientation-dependent impediment to polymerase passage on CAG/CTG repeats |
| Q36431185 | Sirt1 mediates neuroprotection from mutant huntingtin by activation of the TORC1 and CREB transcriptional pathway |
| Q50027519 | Small interfering RNAs based on huntingtin trinucleotide repeats are highly toxic to cancer cells. |
| Q36630032 | Solid-State Nuclear Magnetic Resonance on the Static and Dynamic Domains of Huntingtin Exon-1 Fibrils |
| Q30832849 | Somatic CTG*CAG repeat instability in a mouse model for myotonic dystrophy type 1 is associated with changes in cell nuclearity and DNA ploidy |
| Q90826147 | Somatic mutations in the human brain: implications for psychiatric research |
| Q34983965 | Spectrum of sleep disorders in a patient with spinocerebellar ataxia 13. |
| Q30612908 | Spinal and bulbar muscular atrophy: pathogenesis and clinical management |
| Q36823235 | Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels |
| Q48634807 | Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations |
| Q34582131 | Splicing in disease: disruption of the splicing code and the decoding machinery |
| Q35908266 | Staufen1 Regulates Multiple Alternative Splicing Events either Positively or Negatively in DM1 Indicating Its Role as a Disease Modifier |
| Q27681374 | Structural dynamics of double-helical RNAs composed of CUG/CUG- and CUG/CGG-repeats |
| Q36749672 | Studying polyglutamine aggregation in Caenorhabditis elegans using an analytical ultracentrifuge equipped with fluorescence detection. |
| Q47799714 | Sumoylation: Implications for Neurodegenerative Diseases |
| Q36677547 | Suppression of neuropil aggregates and neurological symptoms by an intracellular antibody implicates the cytoplasmic toxicity of mutant huntingtin |
| Q37299616 | Suppression of polyglutamine protein toxicity by co-expression of a heat-shock protein 40 and a heat-shock protein 110 |
| Q38806111 | TIA1 oxidation inhibits stress granule assembly and sensitizes cells to stress-induced apoptosis |
| Q34027368 | TRedD--a database for tandem repeats over the edit distance |
| Q28600879 | Tandem amino acid repeats in the green anole (Anolis carolinensis) and other squamates may have a role in increasing genetic variability |
| Q58606931 | Tandem repeats contribute to coding sequence variation in bumblebees (Hymenoptera: Apidae) |
| Q41848828 | Tandem repeats modify the structure of human genes hosted in segmental duplications |
| Q28504521 | Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits |
| Q33588831 | Targeting toxic RNAs that cause myotonic dystrophy type 1 (DM1) with a bisamidinium inhibitor |
| Q37728628 | Targets and consequences of protein SUMOylation in neurons. |
| Q58610276 | The G-rich Repeats in and Loci Are Hotspots for Local Unpairing of DNA |
| Q36193918 | The Machado-Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53 |
| Q35656171 | The Toxic Effects of Pathogenic Ataxin-3 Variants in a Yeast Cellular Model |
| Q81101672 | The clinical diagnosis of autosomal dominant spinocerebellar ataxias |
| Q46118080 | The effect of CAG repeat length polymorphism in the murine glucocorticoid receptor on transactivation potential |
| Q38238474 | The expanding role for chromatin and transcription in polyglutamine disease. |
| Q36521941 | The genetics of neurodegenerative diseases |
| Q41899007 | The origin of genetic instability in CCTG repeats |
| Q34623901 | The overdue promise of short tandem repeat variation for heritability. |
| Q24634680 | The pathobiology of splicing |
| Q42657138 | The polyglutamine protein ataxin-3 enables normal growth under heat shock conditions in the methylotrophic yeast Pichia pastoris |
| Q27342782 | The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/C(Cdh1) ubiquitin ligase complex |
| Q34702915 | The potential role of ribosomal frameshifting in generating aberrant proteins implicated in neurodegenerative diseases |
| Q34706897 | The role of CELF proteins in neurological disorders. |
| Q38992087 | The role of RNA metabolism in neurological diseases. |
| Q36643186 | The roles of binding site arrangement and combinatorial targeting in microRNA repression of gene expression |
| Q42206557 | Thermodynamic description of polymorphism in Q- and N-rich peptide aggregates revealed by atomistic simulation |
| Q36227615 | Tissue transglutaminase crosslinks ataxin-1: possible role in SCA1 pathogenesis |
| Q33917909 | Topoisomerase 1 and single-strand break repair modulate transcription-induced CAG repeat contraction in human cells |
| Q45299733 | Topoisomerase 1 inhibitor topotecan delays the disease progression in a mouse model of Huntington's disease. |
| Q49607733 | Topoisomerase I and Genome Stability: The Good and the Bad. |
| Q40115433 | Transcription-induced CAG repeat contraction in human cells is mediated in part by transcription-coupled nucleotide excision repair |
| Q38448720 | Transcription-induced DNA toxicity at trinucleotide repeats: double bubble is trouble |
| Q36825729 | Transcriptional malfunctioning of heat shock protein gene expression in spinocerebellar ataxias. |
| Q28239576 | Translation matters: protein synthesis defects in inherited disease |
| Q30365530 | Trend-TDT - a transmission/disequilibrium based association test on functional mini/microsatellites. |
| Q57190619 | Trinucleotide Repeat Expansion Diseases, RNAi, and Cancer |
| Q38551802 | Trinucleotide repeat expansions in human breast cancer-susceptibility genes: relevant targets for aspirin chemoprevention? |
| Q38507135 | Trinucleotide repeats in human genome and exome. |
| Q40134900 | Ubiquilin overexpression reduces GFP-polyalanine-induced protein aggregates and toxicity |
| Q24318431 | Ubiquitination directly enhances activity of the deubiquitinating enzyme ataxin-3 |
| Q37348895 | Ubiquitination regulates the neuroprotective function of the deubiquitinase ataxin-3 in vivo. |
| Q35976012 | Variable Glutamine-Rich Repeats Modulate Transcription Factor Activity |
| Q48849617 | White matter damage is related to ataxia severity in SCA3. |
| Q34021533 | Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1. |
| Q36423826 | Young adult male carriers of the fragile X premutation exhibit genetically modulated impairments in visuospatial tasks controlled for psychomotor speed |
| Q27314605 | dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1 |
| Q35121246 | p62 plays a protective role in the autophagic degradation of polyglutamine protein oligomers in polyglutamine disease model flies |
| Q91718968 | popSTR2 enables clinical and population-scale genotyping of microsatellites |
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