| scholarly article | Q13442814 |
| review article | Q7318358 |
| P50 | author | Huda Zoghbi | Q1633764 |
| P2093 | author name string | Cummings CJ | |
| P433 | issue | 6 | |
| P304 | page(s) | 909-916 | |
| P577 | publication date | 2000-04-01 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | Fourteen and counting: unraveling trinucleotide repeat diseases | |
| P478 | volume | 9 |
| Q41792406 | (CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition |
| Q34159318 | A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease |
| Q28681184 | A decade and a half of protein intrinsic disorder: biology still waits for physics |
| Q28727425 | A direct characterization of human mutation based on microsatellites |
| Q41846415 | A fast and specific alignment method for minisatellite maps |
| Q28190379 | A forkhead-domain gene is mutated in a severe speech and language disorder |
| Q92212426 | A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family |
| Q34153913 | A linear lattice model for polyglutamine in CAG-expansion diseases |
| Q45034215 | A molecular pathogenesis for transcription factor associated poly-alanine tract expansions |
| Q34975300 | A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance |
| Q30329219 | A structural approach to trinucleotide expansion diseases. |
| Q41113362 | A tale of a tail: Structural insights into the conformational properties of the polyglutamine protein ataxin-3. |
| Q54619901 | Abundance and Characterization of Perfect Microsatellites on the Cattle Y Chromosome. |
| Q24816457 | Advances in mechanisms of genetic instability related to hereditary neurological diseases |
| Q45298294 | Allele-specific conditional destabilization of glutamine repeat mRNAs. |
| Q37184755 | Amyloidogenesis of natively unfolded proteins |
| Q35576412 | Amyloids go genomic: insights regarding the sequence determinants of prion formation from genome-wide studies |
| Q37552399 | An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy |
| Q47828128 | An exhaustive DNA micro-satellite map of the human genome using high performance computing. |
| Q30328684 | An expanded glutamine repeat destabilizes native ataxin-3 structure and mediates formation of parallel beta -fibrils. |
| Q34494994 | An investigation into FOXE1 polyalanine tract length in premature ovarian failure. |
| Q30859795 | An orthogonal oligonucleotide protecting group strategy that enables assembly of repetitive or highly structured DNAs |
| Q61195888 | Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome |
| Q45296561 | Ancient origin of the CAG expansion causing Huntington disease in a Spanish population. |
| Q45881645 | Antisense RNA sequences modulating the ataxin-1 message: molecular model of gene therapy for spinocerebellar ataxia type 1, a dominant-acting unstable trinucleotide repeat disease |
| Q53274301 | Application of ubiquitin immunohistochemistry to the diagnosis of disease. |
| Q34181169 | Assessing the contribution of heterogeneous distributions of oligomers to aggregation mechanisms of polyglutamine peptides |
| Q81225961 | Assignment of the 1H, 13C, and 15N resonances of the Josephin domain of human ataxin-3 |
| Q48735197 | Association of CAG repeat loci on chromosome 22 with schizophrenia and bipolar disorder. |
| Q34353584 | Ataxia and hereditary disorders |
| Q24317006 | Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways |
| Q33635896 | Ataxin-3 promotes genome integrity by stabilizing Chk1. |
| Q42807632 | Ataxin-7 can export from the nucleus via a conserved exportin-dependent signal. |
| Q40250302 | Both CAG repeats and inverted DNA repeats stimulate spontaneous unequal sister-chromatid exchange in Saccharomyces cerevisiae |
| Q38855978 | CAG repeats mimic CUG repeats in the misregulation of alternative splicing |
| Q47581676 | Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy. |
| Q44865087 | Characterization of intracellular aggregates using fluorescently-tagged polyglutamine-expanded androgen receptor |
| Q40485534 | Chemotherapeutic deletion of CTG repeats in lymphoblast cells from DM1 patients |
| Q44179098 | Chemotherapeutically induced deletion of expanded triplet repeats |
| Q34612185 | Cis-elements governing trinucleotide repeat instability in Saccharomyces cerevisiae. |
| Q55384242 | Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. |
| Q34618898 | Compositional biases and polyalanine runs in humans |
| Q35033920 | Computational and experimental analysis of microsatellites in rice (Oryza sativa L.): frequency, length variation, transposon associations, and genetic marker potential |
| Q64387600 | Contractions and expansions of CAG/CTG trinucleotide repeats occur during ectopic gene conversion in yeast, by a MUS81-independent mechanism |
| Q34097811 | Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content |
| Q39860943 | CpG methylation modifies the genetic stability of cloned repeat sequences |
| Q34460105 | Cross linking of polyglutamine domains catalyzed by tissue transglutaminase is greatly favored with pathological-length repeats: does transglutaminase activity play a role in (CAG)(n)/Q(n)-expansion diseases? |
| Q37518254 | DNA elements important for CAG*CTG repeat thresholds in Saccharomyces cerevisiae. |
| Q24647002 | DNA mismatch repair: molecular mechanism, cancer, and ageing |
| Q46892308 | Delayed spinocerebellar ataxia in transgenic mice expressing mutant ubiquitin. |
| Q51773644 | Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives. |
| Q34997848 | Diagnostic testing in neurogenetics. Principles, limitations, and ethical considerations |
| Q64895891 | Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools. |
| Q43583224 | Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia |
| Q47613425 | Distinct aggregation and cell death patterns among different types of primary neurons induced by mutant huntingtin protein |
| Q90186476 | Distribution patterns of microsatellites and development of its marker in different genomic regions of forest musk deer genome based on high throughput sequencing |
| Q53011555 | Distributional gradient of amino acid repeats in plant proteins. |
| Q44546897 | Domain architecture of the polyglutamine protein ataxin-3: a globular domain followed by a flexible tail |
| Q42707473 | Downregulation of proteins involved in the endoplasmic reticulum stress response and Nrf2-ARE signaling in lymphoblastoid cells of spinocerebellar ataxia type 17. |
| Q64230773 | Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy |
| Q35168414 | Effects on murine behavior and lifespan of selectively decreasing expression of mutant huntingtin allele by supt4h knockdown |
| Q33948391 | Efficient repair of large DNA loops in Saccharomyces cerevisiae |
| Q48585608 | Enhanced SUMOylation in polyglutamine diseases. |
| Q33790698 | Evaluation of microsatellite variation in the 1000 Genomes Project pilot studies is indicative of the quality and utility of the raw data and alignments |
| Q52939004 | Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells. |
| Q40433494 | Examination of Ataxin-3 (atx-3) Aggregation by Structural Mass Spectrometry Techniques: A Rationale for Expedited Aggregation upon Polyglutamine (polyQ) Expansion |
| Q42246430 | Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients |
| Q81550110 | Expansion of GAA trinucleotide repeats in mammals |
| Q31072074 | Fluorescence correlation spectroscopy shows that monomeric polyglutamine molecules form collapsed structures in aqueous solutions |
| Q47206201 | Folding of polyglutamine chains |
| Q33911387 | Formation of morphologically similar globular aggregates from diverse aggregation-prone proteins in mammalian cells |
| Q36986347 | Functional anthology of intrinsic disorder. 2. Cellular components, domains, technical terms, developmental processes, and coding sequence diversities correlated with long disordered regions |
| Q33736258 | Functional insights from the distribution and role of homopeptide repeat-containing proteins |
| Q34282647 | Gene structure and expression of the 5'-(CGG)(n)-3'-binding protein (CGGBP1). |
| Q35294809 | Genetic polymorphisms in the expression and treatment of neuropsychiatric disorders |
| Q34435156 | Genetics and genomics in neuropsychopharmacology: the impact on drug discovery and development |
| Q35144968 | Genetics of pediatric movement disorders |
| Q38964549 | Genome Editing of Monogenic Neuromuscular Diseases: A Systematic Review |
| Q24804665 | Genome-wide analysis of microsatellite repeats in humans: their abundance and density in specific genomic regions |
| Q33948914 | Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene |
| Q25256616 | Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. |
| Q54534838 | Hairpin formation in Friedreich's ataxia triplet repeat expansion. |
| Q33833715 | Heterogeneity in the rate and pattern of germline mutation at individual microsatellite loci |
| Q36599926 | Histone deacetylase inhibitors as therapeutics for polyglutamine disorders |
| Q30962381 | Huntington disease expansion mutations in humans can occur before meiosis is completed |
| Q34154622 | Huntington's disease age-of-onset linked to polyglutamine aggregation nucleation |
| Q27934694 | Identification of RTG2 as a modifier gene for CTG*CAG repeat instability in Saccharomyces cerevisiae |
| Q52584075 | Identification of genes that modify ataxin-1-induced neurodegeneration. |
| Q90248470 | Immunotherapies in Huntington's disease and α-Synucleinopathies |
| Q52937253 | In vitro (CTG)*(CAG) expansions and deletions by human cell extracts. |
| Q74244366 | Inflammatory genes are upregulated in expanded ataxin-3-expressing cell lines and spinocerebellar ataxia type 3 brains |
| Q44280721 | Insoluble TATA-binding protein accumulation in Huntington's disease cortex. |
| Q80105832 | Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17 |
| Q78067523 | Instability of repeated DNAs during transformation in Escherichia coli |
| Q30991287 | Interaction of the calcium-sensing receptor and filamin, a potential scaffolding protein |
| Q47351608 | Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions. |
| Q24815214 | Inverted repeat-stimulated sister-chromatid exchange events are RAD1-independent but reduced in a msh2 mutant |
| Q74044878 | Involvement of the nucleotide excision repair protein UvrA in instability of CAG*CTG repeat sequences in Escherichia coli |
| Q35777504 | Kennedy's disease: pathogenesis and clinical approaches |
| Q34144349 | LINE drive. retrotransposition and genome instability |
| Q43569689 | Late paternity and stillbirth risk |
| Q44185929 | Ligand promotes intranuclear inclusions in a novel cell model of spinal and bulbar muscular atrophy |
| Q28587809 | Longitudinal evaluation of the Hdh(CAG)150 knock-in murine model of Huntington's disease |
| Q40581844 | MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice. |
| Q24810710 | Mechanistic features of CAG*CTG repeat contractions in cultured cells revealed by a novel genetic assay |
| Q37597563 | Microsatellite mapping of Mycobacterium leprae populations in infected humans |
| Q34193900 | Mini- and microsatellite expansions: the recombination connection |
| Q38223686 | Misfolding of amyloidogenic proteins and their interactions with membranes |
| Q40473493 | Misfolding promotes the ubiquitination of polyglutamine-expanded ataxin-3, the defective gene product in SCA3/MJD. |
| Q36640173 | Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy. |
| Q34408222 | Modeling Huntington's disease in cells, flies, and mice |
| Q38575523 | Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein |
| Q40509235 | Modified single-stranded oligonucleotides inhibit aggregate formation and toxicity induced by expanded polyglutamine |
| Q52048591 | Molecular dynamics studies of trinucleotide repeat DNA involved in neurodegenerative disorders. |
| Q34783822 | Mouse and fly models of neurodegeneration |
| Q34502714 | Mouse models of Huntington's disease |
| Q39429472 | Muscular myopathies other than myotonic dystrophy also associated with (CTG)n expansion at the DMPK locus |
| Q34430560 | Mutational analysis of the structural organization of polyglutamine aggregates |
| Q39940361 | Mutations in Yeast Replication Proteins That Increase CAG/CTG Expansions Also Increase Repeat Fragility |
| Q34085541 | Neurobiology of disease |
| Q74220077 | Neurodegenerative diseases. Origins of instability |
| Q28070156 | Neuropsychiatric Disturbances in Alzheimer's Disease: What Have We Learned from Neuropathological Studies? |
| Q28648058 | Next Generation Sequencing and Transcriptome Analysis Predicts Biosynthetic Pathway of Sennosides from Senna (Cassia angustifolia Vahl.), a Non-Model Plant with Potent Laxative Properties |
| Q38784259 | Next generation sequencing (NGS) database for tandem repeats with multiple pattern 2°-shaft multicore string matching |
| Q24795404 | Nonrandom distribution and frequencies of genomic and EST-derived microsatellite markers in rice, wheat, and barley |
| Q33242896 | Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region |
| Q41964997 | Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery. |
| Q44158339 | Origin and instability of GAA repeats: insights from Alu elements |
| Q34152571 | P63 gene mutations and human developmental syndromes. |
| Q42522108 | PQBP-1 increases vulnerability to low potassium stress and represses transcription in primary cerebellar neurons |
| Q45294379 | Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability |
| Q33260629 | Phage display screening for peptides that inhibit polyglutamine aggregation |
| Q34446532 | Polyglutamine tract expansion of the androgen receptor in a motoneuronal model of spinal and bulbar muscular atrophy. |
| Q28214642 | Post-genomic era and gene discovery for psychiatric diseases: there is a new art of the trade? The example of the HUMTH01 microsatellite in the Tyrosine Hydroxylase gene |
| Q73370839 | Primary pulmonary hypertension |
| Q41982548 | Proofreading and secondary structure processing determine the orientation dependence of CAG x CTG trinucleotide repeat instability in Escherichia coli |
| Q35182047 | Prospects for the pharmacotherapy of amyotrophic lateral sclerosis : old strategies and new paradigms for the third millennium |
| Q24624818 | Protein tandem repeats - the more perfect, the less structured |
| Q58020324 | Quality control in molecular genetic testing |
| Q35963371 | Quantitative characterization of intrinsic disorder in polyglutamine: insights from analysis based on polymer theories |
| Q28290772 | RNA and microRNAs in fragile X mental retardation |
| Q34075342 | RNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of Machado-Joseph disease |
| Q34542108 | RNA structure of trinucleotide repeats associated with human neurological diseases |
| Q34303837 | RNAi-based therapies for Huntington's disease: delivery challenges and opportunities |
| Q35576413 | Recent advances in understanding the pathogenesis of polyglutamine diseases: involvement of molecular chaperones and ubiquitin-proteasome pathway. |
| Q36457052 | Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence |
| Q35785913 | Repetitive sequences that shape the human transcriptome |
| Q40405624 | Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia |
| Q47614563 | Rescue of ATXN3 neuronal toxicity in Caenorhabditiselegans by chemical modification of endoplasmic reticulum stress. |
| Q83939160 | Role of glutamine deamidation in neurodegenerative diseases associated with triplet repeat expansions: a hypothesis |
| Q35764321 | Role of heat shock proteins during polyglutamine neurodegeneration: mechanisms and hypothesis |
| Q41949490 | Role of histidine interruption in mitigating the pathological effects of long polyglutamine stretches in SCA1: A molecular approach |
| Q37922607 | Role of metal ions in aggregation of intrinsically disordered proteins in neurodegenerative diseases |
| Q44532923 | SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6. |
| Q34575362 | SUMO-1 modification on K166 of polyQ-expanded ataxin-3 strengthens its stability and increases its cytotoxicity |
| Q39757351 | Saccharomyces cerevisiae Srs2 DNA helicase selectively blocks expansions of trinucleotide repeats. |
| Q44748898 | Seeding specificity in amyloid growth induced by heterologous fibrils |
| Q39724719 | Silencing ataxin-3 mitigates degeneration in a rat model of Machado-Joseph disease: no role for wild-type ataxin-3? |
| Q37634942 | Simple sequence repeat polymorphisms (SSRPs) for evaluation of molecular diversity and germplasm classification of minor crops. |
| Q50706939 | Simple sequence repeats in organellar genomes of rice: frequency and distribution in genic and intergenic regions. |
| Q39687235 | Slipped-strand DNAs formed by long (CAG)*(CTG) repeats: slipped-out repeats and slip-out junctions |
| Q28361593 | Solubilization and disaggregation of polyglutamine peptides |
| Q43929527 | Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary |
| Q43970160 | Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles |
| Q74555079 | Sporadic testicular germ cell cancers do not exhibit specific alteration in CAG/CTG repeats containing genes expressed in human testis |
| Q54481127 | Srs2 helicase of Saccharomyces cerevisiae selectively unwinds triplet repeat DNA. |
| Q39995612 | Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease |
| Q35538754 | Structures of trinucleotide repeats in human transcripts and their functional implications. |
| Q38563516 | Studying polyglutamine diseases in Drosophila. |
| Q34271785 | Subnuclear dynamics and transcription factor function. |
| Q44852327 | Substantia nigra Marinesco bodies are associated with decreased striatal expression of dopaminergic markers |
| Q21563475 | Systematic analysis of compositional order of proteins reveals new characteristics of biological functions and a universal correlate of macroevolution |
| Q34248038 | Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion diseases |
| Q44604484 | Targeted nucleotide exchange in the CAG repeat region of the human HD gene |
| Q36020398 | Targeting intrinsically disordered proteins in neurodegenerative and protein dysfunction diseases: another illustration of the D(2) concept |
| Q28740870 | Targeting several CAG expansion diseases by a single antisense oligonucleotide |
| Q33268282 | The interplay between PolyQ and protein context delays aggregation by forming a reservoir of protofibrils |
| Q50789250 | The myotonic dystrophy type 1 triplet repeat sequence induces gross deletions and inversions. |
| Q34688320 | The role of chaperones in polyglutamine disease |
| Q35271805 | The role of the immune system in triplet repeat expansion diseases |
| Q34216757 | The selective vulnerability of nerve cells in Huntington's disease |
| Q37587437 | Therapeutic opportunities of small interfering RNA. |
| Q36277195 | Therapeutics development for triplet repeat expansion diseases |
| Q34291180 | Transcription and nuclear transport of CAG/CTG trinucleotide repeats in yeast |
| Q43205499 | Trinucleotide expansions leading to an extended poly-L-alanine segment in the poly (A) binding protein PABPN1 cause fibril formation |
| Q35025253 | Trinucleotide repeat disease. The androgen receptor in spinal and bulbar muscular atrophy |
| Q79266865 | Trinucleotide repeat expansions: timing is everything |
| Q34446513 | Triplet repeats, RNA secondary structure and toxic gain-of-function models for pathogenesis |
| Q34446575 | Triplet repeats, over-expanded in neuromuscular diseases, are under-represented in mammalian DNA: a survey of models |
| Q42268422 | UV resonance Raman spectroscopy monitors polyglutamine backbone and side chain hydrogen bonding and fibrillization |
| Q24650459 | UgMicroSatdb: database for mining microsatellites from unigenes |
| Q30385084 | Understanding protein non-folding. |
| Q73009397 | Unpaired structures in SCA10 (ATTCT)n.(AGAAT)n repeats |
| Q47604676 | Unusual tumors associated with the hereditary nonpolyposis colorectal cancer syndrome |
| Q33302352 | XSTREAM: a practical algorithm for identification and architecture modeling of tandem repeats in protein sequences |
| Q24791991 | i-Genome: a database to summarize oligonucleotide data in genomes |
| Q38648154 | microRNAs as neuroregulators, biomarkers and therapeutic agents in neurodegenerative diseases |
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