scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1029169187 |
P356 | DOI | 10.1038/NG0595-94 |
P3181 | OpenCitations bibliographic resource ID | 2721648 |
P698 | PubMed publication ID | 7647801 |
P50 | author | Huda Zoghbi | Q1633764 |
Harry T. Orr | Q47823272 | ||
P2093 | author name string | Armstrong D | |
Servadio A | |||
Koshy B | |||
Antalffy B | |||
P2860 | cites work | Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4 | Q25938983 |
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. | Q27860836 | ||
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 | Q28235526 | ||
The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family | Q28240104 | ||
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p | Q28250966 | ||
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) | Q28250990 | ||
Analysis of Sp1 in vivo reveals multiple transcriptional domains, including a novel glutamine-rich activation motif | Q29620290 | ||
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy | Q34023072 | ||
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. | Q34353488 | ||
Homozygotes for Huntington's disease | Q34559291 | ||
Characterization and localization of the Huntington disease gene product | Q34662553 | ||
Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases | Q35442097 | ||
Huntington's disease gene (IT15) is widely expressed in human and rat tissues | Q42502776 | ||
Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues | Q42503942 | ||
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. | Q42507687 | ||
Different activation domains of Sp1 govern formation of multimers and mediate transcriptional synergism | Q46405351 | ||
Identification and characterization of the gene causing type 1 spinocerebellar ataxia | Q48080540 | ||
The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene. | Q52052709 | ||
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease | Q56909297 | ||
Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status | Q67514715 | ||
Antigen unmasking on formalin-fixed, paraffin-embedded tissue sections | Q71606091 | ||
Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism | Q72233686 | ||
Dynamic mutations hit double figures | Q72586891 | ||
Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy | Q72635320 | ||
P433 | issue | 1 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Ataxin 1 | Q4812916 |
cerebellum | Q130983 | ||
spinocerebellar ataxia type 1 | Q21097855 | ||
P304 | page(s) | 94-98 | |
P577 | publication date | 1995-05-01 | |
P1433 | published in | Nature Genetics | Q976454 |
P1476 | title | Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals | |
P478 | volume | 10 |
Q35266578 | 14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus |
Q48567301 | A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. |
Q50419969 | ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. |
Q64060839 | Aberrant Phase Transitions: Side Effects and Novel Therapeutic Strategies in Human Disease |
Q28141695 | Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin |
Q48598476 | Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice |
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 |
Q58617295 | Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles |
Q90459440 | Astroglia contribute to the pathogenesis of spinocerebellar ataxia Type 1 (SCA1) in a biphasic, stage-of-disease specific manner |
Q48373570 | Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice |
Q24322756 | Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures |
Q50042095 | Autobiography Series: Some Remembrances About Education and Neuropathology Studies |
Q33611623 | Autoregulation of Fox protein expression to produce dominant negative splicing factors |
Q24675962 | Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1 |
Q34498957 | Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy |
Q34446537 | Calcium homeostasis and spinocerebellar ataxia-1 (SCA-1). |
Q38978018 | Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder |
Q26829511 | Cell biology of spinocerebellar ataxia |
Q45307343 | Cells exposed to a huntingtin fragment containing an expanded polyglutamine tract show no sign of ion channel formation: results arguing against the ion channel hypothesis |
Q35001739 | Cellular fusion for gene delivery to SCA1 affected Purkinje neurons |
Q36477656 | Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2 |
Q47991885 | Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. |
Q37294193 | Characterization of the zebrafish atxn1/axh gene family |
Q41025202 | Clinical implications of unstable DNA repeat sequences |
Q37140745 | Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. |
Q48067508 | Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). |
Q46925753 | Comparative studies of the CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene |
Q59134707 | Complementary proteomics strategies capture an ataxin-1 interactome in Neuro-2a cells |
Q45299117 | Correction of hemophilia B in canine and murine models using recombinant adeno-associated viral vectors |
Q92354437 | Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA) |
Q38113990 | Disulfide bonds in amyloidogenesis diseases related proteins |
Q81665530 | Dominantly inherited ataxias. Part I |
Q48585608 | Enhanced SUMOylation in polyglutamine diseases |
Q36848454 | Epigenetics in nucleotide repeat expansion disorders |
Q45294431 | Etiology of (CAG)n triplet repeat neurodegenerative diseases such as Huntington's disease is connected to stimulation of glutamate receptors |
Q40968069 | Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro |
Q26991754 | Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease |
Q29615357 | Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice |
Q28279878 | Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo |
Q28069787 | Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1 |
Q34492842 | Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2. |
Q48758760 | Expression of dentatorubral-pallidoluysian atrophy (DRPLA) proteins in patients |
Q36179233 | Fusion of Human Fetal Mesenchymal Stem Cells with "Degenerating" Cerebellar Neurons in Spinocerebellar Ataxia Type 1 Model Mice. |
Q71990830 | Gain of glutamines, gain of function? |
Q26738497 | Gene, Stem Cell, and Alternative Therapies for SCA 1 |
Q37196137 | Genetic and molecular aspects of spinocerebellar ataxias |
Q37910368 | Genetically engineered mouse models of the trinucleotide-repeat spinocerebellar ataxias |
Q41312696 | Glutamine repeats and inherited neurodegenerative diseases: molecular aspects |
Q24318878 | HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain |
Q48150853 | Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1. |
Q45291767 | Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. |
Q24311567 | Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme |
Q54065107 | Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody. |
Q34157417 | Impact of nuclear organization and dynamics on epigenetic regulation in the central nervous system: implications for neurological disease states |
Q42952848 | Impaired insulin sensitivity and secretion in normoglycemic patients with spinocerebellar ataxia type 1 |
Q24527335 | Induction of endogenous genes following infection of human endothelial cells with an E1(-) E4(+) adenovirus gene transfer vector |
Q28204152 | Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death |
Q48644018 | Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. |
Q47351608 | Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions. |
Q24678584 | Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1 |
Q28511494 | Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation |
Q24320134 | Mitochondrial DNA polymerases from yeast to man: a new family of polymerases |
Q37832902 | Modifiers and mechanisms of multi-system polyglutamine neurodegenerative disorders: lessons from fly models. |
Q71890651 | Molecular and clinical analysis on muscle wasting in patients with spinocerebellar ataxia type 1 |
Q41452546 | Molecular genetics and neurobiology of neurodegenerative and neurodevelopmental disorders |
Q59795532 | Molecular pathway analysis towards understanding tissue vulnerability in spinocerebellar ataxia type 1 |
Q43108994 | Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients. |
Q41527091 | Mouse Models of Human CAG Repeat Disorders |
Q57189422 | Muscle morphology and mitochondrial investigations of a family with autosomal dominant cerebellar ataxia and retinal degeneration mapped to chromosome 3p12-p21.1 |
Q52689519 | Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1. |
Q41486765 | Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability. |
Q89474730 | Nuclear bodies formed by polyQ-ataxin-1 protein are liquid RNA/protein droplets with tunable dynamics |
Q28585964 | Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence |
Q22003756 | Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7 |
Q33933843 | Nuclear proteins and cell death in inherited neuromuscular disease |
Q34955481 | Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model |
Q48291079 | Pathogenesis of neurodegenerative diseases associated with expanded glutamine repeats: new answers, new questions. |
Q24655547 | Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1 |
Q43806443 | Phenotypic effects of expanded ataxin-1 polyglutamines with interruptions in vitro |
Q40164617 | Poly-L-glutamine forms cation channels: relevance to the pathogenesis of the polyglutamine diseases |
Q38066311 | PolyQ disease: misfiring of a developmental cell death program? |
Q27302121 | Polyglutamine expansion accelerates the dynamics of ataxin-1 and does not result in aggregate formation |
Q41269608 | Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias |
Q33703910 | Polyglutamine pathogenesis. |
Q33703930 | Progress in pathogenesis studies of spinocerebellar ataxia type 1. |
Q50061948 | Protein kinase C activity is a protective modifier of Purkinje neuron degeneration in cerebellar ataxia. |
Q41998176 | Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction |
Q24322711 | Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels |
Q48628376 | Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. |
Q33607305 | RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1 |
Q37423590 | RNAi prevents and reverses phenotypes induced by mutant human ataxin-1. |
Q36597924 | RNAi therapy for neurodegenerative diseases. |
Q24316105 | RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice |
Q32034809 | Reduction of glyceraldehyde-3-phosphate dehydrogenase activity in Alzheimer's disease and in Huntington's disease fibroblasts |
Q54110032 | Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model. |
Q34929852 | Regulation of microRNA expression by HMGA1 proteins |
Q73571897 | Relationship between ataxin-1 nuclear inclusions and Purkinje cell specific proteins in SCA-1 transgenic mice |
Q42181076 | Retinal Nerve Fibre Layer and Macular Thinning in Spinocerebellar Ataxia and Cerebellar Multisystem Atrophy |
Q30496777 | SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. |
Q44437509 | Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice |
Q47108808 | Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model. |
Q42037871 | Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability |
Q48524084 | Somatic mosaicism of the expanded CAG trinucleotide repeat in mRNAs for the responsible gene of Machado-Joseph disease (MJD), dentatorubral-pallidoluysian atrophy (DRPLA), and spinal and bulbar muscular atrophy (SBMA). |
Q48671892 | Spinocerebellar ataxia type 1 (SCA1): new pathoanatomical and clinico-pathological insights |
Q33887985 | Spinocerebellar ataxia type 1--modeling the pathogenesis of a polyglutamine neurodegenerative disorder in transgenic mice |
Q34526133 | Stabilization and Degradation Mechanisms of Cytoplasmic Ataxin-1. |
Q27676895 | Structural basis of protein complex formation and reconfiguration by polyglutamine disease protein Ataxin-1 and Capicua |
Q92501358 | Suppression of Mutant Protein Expression in SCA3 and SCA1 Mice Using a CAG Repeat-Targeting Antisense Oligonucleotide |
Q48537185 | Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. |
Q34893127 | The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects |
Q41527072 | The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis |
Q41527060 | The Neuropathology of CAG Repeat Diseases: Review and Update of Genetic and Molecular Features |
Q28589800 | The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1 |
Q33998074 | The complex clinical and genetic classification of inherited ataxias. I. Dominant ataxias |
Q41477080 | The complex pathology of trinucleotide repeats |
Q36444032 | The importance of serine 776 in Ataxin-1 partner selection: a FRET analysis |
Q33992649 | The molecular biology of the autosomal-dominant cerebellar ataxias |
Q41527106 | Toward understanding the molecular pathology of Huntington's disease. |
Q54575453 | Toxicity of expanded polyglutamine-domain proteins in Escherichia coli. |
Q34001953 | Transcriptional dysregulation in Huntington's disease |
Q41682897 | Transgenic mouse models of neurodegenerative disease caused by CAG/polyglutamine expansions |
Q45296134 | Transglutaminase action imitates Huntington's disease: selective polymerization of Huntingtin containing expanded polyglutamine. |
Q38965363 | Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function |
Q24300683 | USP7, a ubiquitin-specific protease, interacts with ataxin-1, the SCA1 gene product |
Q24302154 | p80 coilin, a coiled body-specific protein, interacts with ataxin-1, the SCA1 gene product |
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