Published in Nat Genet on September 01, 1997
Natural History of Spinocerebellar Ataxia Type 7 (SCA7) | NCT02741440
A census of glutamine/asparagine-rich regions: implications for their conserved function and the prediction of novel prions. Proc Natl Acad Sci U S A (2000) 4.19
Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. PLoS Biol (2006) 2.12
Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration. Proc Natl Acad Sci U S A (2005) 1.97
Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis elegans sensory neuron. Proc Natl Acad Sci U S A (1999) 1.84
CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination. PLoS Genet (2008) 1.72
SAGA-mediated H2B deubiquitination controls the development of neuronal connectivity in the Drosophila visual system. EMBO J (2008) 1.54
Poly-L-glutamine forms cation channels: relevance to the pathogenesis of the polyglutamine diseases. Biophys J (2000) 1.53
CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA. Neuron (2011) 1.49
ATAC-king the complexity of SAGA during evolution. Genes Dev (2012) 1.36
CAG-encoded polyglutamine length polymorphism in the human genome. BMC Genomics (2007) 1.36
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology (2012) 1.33
Intrabodies binding the proline-rich domains of mutant huntingtin increase its turnover and reduce neurotoxicity. J Neurosci (2008) 1.28
Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Hum Mol Genet (2010) 1.16
PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins. J Cell Biol (2006) 1.12
Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration. Cerebellum (2008) 1.11
Histone-modifying enzymes: regulators of developmental decisions and drivers of human disease. Epigenomics (2012) 1.10
Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet (1999) 1.07
Involvement of long noncoding RNAs in diseases affecting the central nervous system. RNA Biol (2012) 1.04
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum (2014) 1.03
Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy. Am J Pathol (1998) 1.02
A new chapter in the transcription SAGA. Curr Opin Struct Biol (2011) 1.01
Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment. J Neurosci (2009) 1.00
Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. Am J Hum Genet (1999) 1.00
Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype. PLoS One (2009) 0.98
Role of histidine interruption in mitigating the pathological effects of long polyglutamine stretches in SCA1: A molecular approach. Protein Sci (2003) 0.97
Satellog: a database for the identification and prioritization of satellite repeats in disease association studies. BMC Bioinformatics (2005) 0.97
Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis. J Mol Diagn (2002) 0.96
Proteomics of dense core secretory vesicles reveal distinct protein categories for secretion of neuroeffectors for cell-cell communication. J Proteome Res (2010) 0.93
Computational neurobiology is a useful tool in translational neurology: the example of ataxia. Front Neurosci (2015) 0.92
Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model. Hum Mol Genet (2011) 0.91
The SAGA histone deubiquitinase module controls yeast replicative lifespan via Sir2 interaction. Cell Rep (2014) 0.91
Oligonucleotide-based strategies to combat polyglutamine diseases. Nucleic Acids Res (2014) 0.90
High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. Am J Hum Genet (2000) 0.89
A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1. Genome Res (1998) 0.89
Pigmentary macular dystrophy in spinocerebellar ataxia type 1. J Neurol Neurosurg Psychiatry (2006) 0.89
Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes. Proc Natl Acad Sci U S A (2012) 0.89
Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene. J Med Genet (1998) 0.88
Direct inhibition of Gcn5 protein catalytic activity by polyglutamine-expanded ataxin-7. J Biol Chem (2013) 0.87
Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7. Nat Struct Mol Biol (2014) 0.86
Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology. Cerebellum (2013) 0.86
Monomeric, oligomeric and polymeric proteins in huntington disease and other diseases of polyglutamine expansion. Brain Sci (2014) 0.84
Genetically engineered mouse models of the trinucleotide-repeat spinocerebellar ataxias. Brain Res Bull (2011) 0.84
Histone deacetylase-3 interacts with ataxin-7 and is altered in a spinocerebellar ataxia type 7 mouse model. Mol Neurodegener (2013) 0.83
Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. Eur J Hum Genet (2010) 0.83
A Tale of Two Maladies? Pathogenesis of Depression with and without the Huntington's Disease Gene Mutation. Front Neurol (2013) 0.83
Histone acetylation, acetyltransferases, and ataxia--alteration of histone acetylation and chromatin dynamics is implicated in the pathogenesis of polyglutamine-expansion disorders. Adv Protein Chem Struct Biol (2010) 0.83
Neurological proteins are not enriched for repetitive sequences. Genetics (2004) 0.83
Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxia. Front Neurosci (2015) 0.82
Therapeutic prospects for spinocerebellar ataxia type 2 and 3. Drugs Future (2009) 0.82
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. Neurogenetics (2004) 0.82
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay. J Mol Diagn (2006) 0.81
Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families. Neurogenetics (2013) 0.80
Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions. Nucleic Acids Res (1998) 0.79
Guide to understanding Drosophila models of neurodegenerative diseases. PLoS Biol (2008) 0.79
Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1-2 polymorphism and contribution to founder effect. J Med Genet (1999) 0.79
Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population. Indian J Med Res (2015) 0.79
Aqueous Extract of Paeonia lactiflora and Paeoniflorin as Aggregation Reducers Targeting Chaperones in Cell Models of Spinocerebellar Ataxia 3. Evid Based Complement Alternat Med (2013) 0.79
Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways. J Physiol (2016) 0.79
In vitro expansion of mammalian telomere repeats by DNA polymerase alpha-primase. Nucleic Acids Res (2000) 0.79
Pathogenic polyglutamine expansion length correlates with polarity of the flanking sequences. Mol Neurodegener (2014) 0.79
CAG-polyglutamine-repeat mutations: independence from gene context. Philos Trans R Soc Lond B Biol Sci (1999) 0.79
Identification of the porcine homologous of human disease causing trinucleotide repeat sequences. Neurogenetics (2007) 0.78
Mismatched nucleotides may facilitate expansion of trinucleotide repeats in genetic diseases. Nucleic Acids Res (1998) 0.78
Current understanding of the role of microRNAs in spinocerebellar ataxias. Cerebellum Ataxias (2014) 0.78
Patterns of instability of expanded CAG repeats at the ERDA1 locus in general populations. Am J Hum Genet (1999) 0.78
Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent. J Hum Genet (2015) 0.78
The localization and interactions of huntingtin. Philos Trans R Soc Lond B Biol Sci (1999) 0.78
Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons. PLoS One (2012) 0.78
Expanded ataxin-7 cause toxicity by inducing ROS production from NADPH oxidase complexes in a stable inducible Spinocerebellar ataxia type 7 (SCA7) model. BMC Neurosci (2012) 0.78
Ubiquitin-specific peptidase 22 functions and its involvement in disease. Oncotarget (2016) 0.77
Indole and synthetic derivative activate chaperone expression to reduce polyQ aggregation in SCA17 neuronal cell and slice culture models. Drug Des Devel Ther (2014) 0.77
Differential degradation of full-length and cleaved ataxin-7 fragments in a novel stable inducible SCA7 model. J Mol Neurosci (2012) 0.77
Drosophila models reveal novel insights into mechanisms underlying neurodegeneration. Fly (Austin) (2014) 0.77
The Aggregation Inhibitor Peptide QBP1 as a Therapeutic Molecule for the Polyglutamine Neurodegenerative Diseases. J Amino Acids (2011) 0.77
Aggregation of Polyglutamine-expanded Ataxin 7 Protein Specifically Sequesters Ubiquitin-specific Protease 22 and Deteriorates Its Deubiquitinating Function in the Spt-Ada-Gcn5-Acetyltransferase (SAGA) Complex. J Biol Chem (2015) 0.77
Pulling complexes out of complex diseases: Spinocerebellar Ataxia 7. Rare Dis (2014) 0.77
Epigenetics and Triplet-Repeat Neurological Diseases. Front Neurol (2015) 0.76
Aberrant phosphorylation of dentatorubral-pallidoluysian atrophy (DRPLA) protein complex in brain tissue. Biochem J (2000) 0.76
Studying polyglutamine diseases in Drosophila. Exp Neurol (2015) 0.76
Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7. J Neurol (2004) 0.76
Evidence of white matter involvement in SCA 7. J Neurol (2006) 0.76
Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families. Case Rep Neurol Med (2014) 0.75
Transcriptome Profiling Identifies Multiplexin as a Target of SAGA Deubiquitinase Activity in Glia Required for Precise Axon Guidance During Drosophila Visual Development. G3 (Bethesda) (2016) 0.75
Drosophila melanogaster As a Model Organism to Study RNA Toxicity of Repeat Expansion-Associated Neurodegenerative and Neuromuscular Diseases. Front Cell Neurosci (2017) 0.75
MULTIMODAL IMAGING OF A FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE 7 DEMONSTRATING PHENOTYPIC VARIATION AND PROGRESSION OF RETINAL DEGENERATION. Retin Cases Brief Rep (2016) 0.75
Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report. Int J Clin Exp Med (2014) 0.75
Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction. Hum Mol Genet (2015) 0.75
Clinical manifestations and gene mutation in a case of Machado-Joseph disease. Neural Regen Res (2012) 0.75
Modulation at age of onset in tunisian huntington disease patients: implication of new modifier genes. Genet Res Int (2014) 0.75
The human δ2 glutamate receptor gene is not mutated in patients with spinocerebellar ataxia. Neural Regen Res (2014) 0.75
A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7. Neurogenetics (2014) 0.75
Knockdown and replacement therapy mediated by artificial mirtrons in spinocerebellar ataxia 7. Nucleic Acids Res (2017) 0.75
Cognitive Changes in the Spinocerebellar Ataxias Due to Expanded Polyglutamine Tracts: A Survey of the Literature. Brain Sci (2017) 0.75
Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression. Transl Psychiatry (2017) 0.75
Enzymatic modules of the SAGA chromatin-modifying complex play distinct roles in Drosophila gene expression and development. Genes Dev (2017) 0.75
The replicative lifespan-extending deletion of SGF73 results in altered ribosomal gene expression in yeast. Aging Cell (2017) 0.75
Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7. Doc Ophthalmol (2015) 0.75
The Gene Ontology (GO) database and informatics resource. Nucleic Acids Res (2004) 54.37
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science (1996) 11.59
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet (2013) 9.46
Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop. Neurology (1996) 8.82
Patient satisfaction: a review of issues and concepts. Soc Sci Med (1997) 8.69
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med (2009) 7.53
Second consensus statement on the diagnosis of multiple system atrophy. Neurology (2008) 7.27
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science (1991) 7.16
Ovalbumin gene is split in chicken DNA. Nature (1977) 7.05
Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med (1996) 6.57
Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology (2006) 6.44
Neurostimulation for Parkinson's disease with early motor complications. N Engl J Med (2013) 6.37
Gene Ontology annotations and resources. Nucleic Acids Res (2012) 6.13
Efficacy and safety of rivastigmine in patients with Alzheimer's disease: international randomised controlled trial. BMJ (1999) 5.36
Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet (2004) 5.06
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet (2000) 5.05
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature (1993) 5.05
Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med (2000) 4.98
DNA methylation: organ specific variations in the methylation pattern within and around ovalbumin and other chicken genes. Nucleic Acids Res (1979) 4.81
Transient acute depression induced by high-frequency deep-brain stimulation. N Engl J Med (1999) 4.79
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet (1999) 4.74
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet (1993) 4.57
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell (1998) 4.41
Quantitating the multiplicity of infection with human immunodeficiency virus type 1 subtype C reveals a non-poisson distribution of transmitted variants. J Virol (2009) 4.40
Bilateral deep brain stimulation in Parkinson's disease: a multicentre study with 4 years follow-up. Brain (2005) 4.33
The substantia nigra of the human brain. II. Patterns of loss of dopamine-containing neurons in Parkinson's disease. Brain (1999) 4.25
Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci U S A (1984) 4.22
Alpha-amanitin: a specific inhibitor of one of two DNA-pendent RNA polymerase activities from calf thymus. Biochem Biophys Res Commun (1970) 4.16
The ovalbumin gene family: structure of the X gene and evolution of duplicated split genes. Cell (1980) 4.14
Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet (1999) 3.93
RANTES deposition by platelets triggers monocyte arrest on inflamed and atherosclerotic endothelium. Circulation (2001) 3.86
Apoptosis and autophagy in nigral neurons of patients with Parkinson's disease. Histol Histopathol (1997) 3.80
Response rate in patient satisfaction research: an analysis of 210 published studies. Int J Qual Health Care (1998) 3.78
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron (1997) 3.73
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet (1994) 3.67
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet (1996) 3.67
HIV infection and South-West general practitioners. J R Soc Health (1989) 3.49
The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif. EMBO J (2001) 3.42
Behavioural disorders, Parkinson's disease and subthalamic stimulation. J Neurol Neurosurg Psychiatry (2002) 3.41
Pharmacokinetics and safety of voriconazole following intravenous- to oral-dose escalation regimens. Antimicrob Agents Chemother (2002) 3.40
Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet (1989) 3.37
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet (1996) 3.26
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature (1996) 3.21
The von Hippel-Lindau tumor suppressor protein is a component of an E3 ubiquitin-protein ligase activity. Genes Dev (1999) 3.17
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet (2001) 3.15
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet (1999) 3.14
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet (1997) 3.11
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. Neurology (2006) 3.07
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature (1995) 2.92
The ovalbumin gene family: hormonal control of X and Y gene transcription and mRNA accumulation. Cell (1981) 2.91
Neurosurgery at an earlier stage of Parkinson disease: a randomized, controlled trial. Neurology (2006) 2.90
The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci U S A (1985) 2.88
Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques. Cytogenet Cell Genet (1985) 2.70
Origin of the expansion mutation in myotonic dystrophy. Nat Genet (1993) 2.70
Monogenic causes of X-linked mental retardation. Nat Rev Genet (2001) 2.68
Alterations in glutathione levels in Parkinson's disease and other neurodegenerative disorders affecting basal ganglia. Ann Neurol (1994) 2.65
Organization of coding and intervening sequences in the chicken ovalbumin split gene. Cell (1978) 2.61
DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome. Hum Genet (1985) 2.59
Neurosurgery in Parkinson disease: a distressed mind in a repaired body? Neurology (2006) 2.59
Alterations in the levels of iron, ferritin and other trace metals in Parkinson's disease and other neurodegenerative diseases affecting the basal ganglia. Brain (1991) 2.52
Partially overlapping neural networks for real and imagined hand movements. Cereb Cortex (2000) 2.47
Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Neurology (2009) 2.46
Isolation and characterization of cDNA clones for human skeletal muscle alpha actin. Nucleic Acids Res (1983) 2.45
Increased nigral iron content and alterations in other metal ions occurring in brain in Parkinson's disease. J Neurochem (1989) 2.44
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet (1996) 2.40
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet (2000) 2.40