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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Ataxin 7

SCA7, ataxin-7
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] (from NCBI)
Top mentioned proteins: SCA2, Jos, CACNA1A, HAD, AGE
Papers using SCA7 antibodies
Papers on SCA7
Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.
Arias et al., Caracas, Venezuela. In J Hum Genet, Dec 2015
In Venezuela, genetic epidemiological features of SCAs have been assessed during the last 30 years; mutations in ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7), ATXN8 (SCA8), ATXN10 (SCA10), TBP (SCA17) and ATN1 (dentatorubral pallidoluysian atrophy, DRPLA) loci were searched among 115 independent families.
Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias.
Lima et al., Ponta Delgada, Portugal. In J Mol Neurosci, Nov 2015
The main goal of this study was to verify the existence of inter-laboratorial consistency comparing genotypes for SCA1, SCA2, SCA3, SCA6 and SCA7 obtained by independent diagnostic laboratories.
Central auditory processing in patients with spinocerebellar ataxia.
Cordeiro et al., Curitiba, Brazil. In Hear Res, Sep 2015
In the audiometric test, 14/43 patients (32.5%) presented alterations, including 4/12 patients with SCA3 (33.3%), 1/8 patients with SCA2 (12.5%), 1/1 patient with SCA4 (100%), 1/1 patient with SCA6 (100%), 1/1 patient with SCA7 (100%), 3/6 patients with SCA10 (50%), and 3/14 patients with an undetermined type of SCA (21.4%).
Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor.
Louis et al., New York City, United States. In Parkinsonism Relat Disord, Aug 2015
These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1).
Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias.
Dong et al., Dalian, China. In Chin Med J (engl), Aug 2015
METHODS: In this study, we investigated 10 SCAs Chinese families with SCA1, SCA3/Machado-Joseph disease (MJD), SCA7, SCA8.
Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study.
Pulkes et al., Bangkok, Thailand. In Bmc Neurol, 2014
METHODS: DNA samples of 82 index patients who were genetically excluded MJD, SCA1, SCA2, SCA6, SCA7 and dentatorubro-pallidoluysian atrophy (DRPLA) were examined.
Autosomal dominant cerebellar ataxias: a systematic review of clinical features.
Merello et al., In Eur J Neurol, 2014
Some ADCAs often presented non-ataxia symptoms at onset, such as SCA7 (visual impairment), SCA14 (myoclonus) and SCA17 (parkinsonism).
From mice to men: lessons from mutant ataxic mice.
Cendelin, Plzeň, Czech Republic. In Cerebellum Ataxias, 2013
Lurcher, Hot-foot, Purkinje cell degeneration, Nervous, Staggerer, Weaver, Reeler, and Scrambler mouse models and mouse models of SCA1, SCA2, SCA3, SCA6, SCA7, SCA23, DRPLA, Niemann-Pick disease and Friedreich ataxia are reviewed with special regard to cerebellar pathology, pathogenesis, functional changes and possible therapeutic influences, if any.
IGF-1 in autosomal dominant cerebellar ataxia - open-label trial.
Arpa et al., Madrid, Spain. In Cerebellum Ataxias, 2013
RESULTS: A total of 19 molecularly confirmed patients with SCA3, 1 patient with SCA6 and 6 patients with SCA7 completed our study.
Whole-brain connectivity analysis and classification of spinocerebellar ataxia type 7 by functional MRI.
Fernandez-Ruiz et al., Mexico. In Cerebellum Ataxias, 2013
BACKGROUND: Spinocerebellar ataxia type 7 (SCA7) is a genetic disorder characterized by degeneration of the motor and visual systems.
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7.
Deller et al., Frankfurt am Main, Germany. In Prog Neurobiol, 2013
The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs).
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.
Koenig et al., Amsterdam, Netherlands. In Handb Clin Neurol, 2012
Some of them, especially SCA7 and SCA2, may begin in childhood or even infancy, family history being positive in these cases.
Brain pathology of spinocerebellar ataxias.
Rüb et al., Frankfurt am Main, Germany. In Acta Neuropathol, 2012
SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17) and that the patterns of brain damage in these diseases overlap considerably in patients suffering from advanced disease stages.
Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network.
Okazawa et al., Tokyo, Japan. In Hum Mol Genet, 2012
ATXN7 distribution frequently shifts from the nucleus to the cytoplasm; cytoplasmic ATXN7 associates with microtubules (MTs); expression of ATXN7 stabilizes MTs; findings provide a novel physiological function of ATXN7 in regulation of cytoskeletal dynamics and suggest that abnormal cytoskeletal regulation may contribute to SCA7 disease pathology
Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model.
Dent et al., United States. In Hum Mol Genet, 2012
findings demonstrate that loss of Gcn5 functions can contribute to the time of onset and severity of SCA7 phenotypes, and suggest that non-transcriptional functions of SAGA may play a role in neurodegeneration in this disease
Spinocerebellar ataxia type 7.
Martin, Antwerp, Belgium. In Handb Clin Neurol, 2011
The Trinucleotide Repeat Expansion mutation in ATXN7 related to Spinocerebellar ataxia type 7.
Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration.
La Spada et al., Seattle, United States. In J Neurosci, 2011
The results of this study indicated that SCA7 disease pathogenesis involves a convergence of alterations in a variety of different cell types to fully recapitulate the cerebellar degeneration.
CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA.
La Spada et al., Seattle, United States. In Neuron, 2011
Ataxin-7 gene expression is governed by an antisense ncRNA transcript, SCAANT1, within the ataxin-7 repeat region where the CTCF binding sites reside, which regulates a previously unrecognized ataxin-7 sense promoter by convergent transcription.
Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.
Ranum et al., Minneapolis, United States. In Nat Genet, 1998
The involvement of trinucleotide repeat expansions in a number of other diseases--including familial spastic paraplegia, schizophrenia, bipolar affective disorder and spinocerebellar ataxia type 7 (SCA7; ref. 10)--is suggested both by the presence of anticipation and by repeat expansion detection (RED) analysis of genomic DNA samples.
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
Brice et al., Paris, France. In Nat Genet, 1997
The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome 3p12-13.
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