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

Ataxin 10

SCA10, spinocerebellar ataxia type 10, ataxin 10, ATXN10
This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of a pentanucleotide repeat in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009] (from NCBI)
Top mentioned proteins: SCA2, SCA12, SCA7, CACNA1A, Jos
Papers on SCA10
[Recent advances in clinical and genetic research of spinocerebellar ataxia type 36].
Wang et al., Changsha, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, Jan 2016
Until now, 5 subtypes including SCA8, SCA10, SCA12, SCA31 and SCA36 have been mapped.
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.
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).
Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection.
Ashizawa et al., Curitiba, Brazil. In Arq Neuropsiquiatr, Aug 2015
Spinocerebellar ataxia type 10 (SCA10) is a rare form of autosomal dominant ataxia found predominantly in patients from Latin America with Amerindian ancestry.
Crystallographic and Computational Analyses of AUUCU Repeating RNA That Causes Spinocerebellar Ataxia Type 10 (SCA10).
Disney et al., Barcelona, Spain. In Biochemistry, Jul 2015
Spinocerebellar ataxia type 10 (SCA10) is caused by a pentanucleotide repeat expansion of r(AUUCU) within intron 9 of the ATXN10 pre-mRNA.
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
Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 genes were comprehensively performed.
SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure.
Ashizawa et al., Gainesville, United States. In Plos One, 2014
A large, non-coding ATTCT repeat expansion causes the neurodegenerative disorder, spinocerebellar ataxia type 10 (SCA10).
[Advances in repeat-primed PCR assay for the genetic diagnosis of dynamic mutation diseases with large pathogenic expansions].
Wu et al., In Yi Chuan, 2014
Here, we reviewed the advances in repeat-primed PCR assay for the genetic diagnoses of myotonic dystrophy, Friedreich's ataxia, SCA10, and amyotrophic lateral sclerosis or frontotemporal dementia caused by C9 or f72 mutations.
Transgenic models of spinocerebellar ataxia type 10: modeling a repeat expansion disorder.
Ashizawa et al., Gainesville, United States. In Genes (basel), 2012
SCA10 is caused by a pentanucleotide repeat expansion of the ATTCT motif within intron 9 of ATAXIN 10 (ATXN10).
Spinocerebellar ataxia type 10.
Ashizawa, Gainesville, United States. In Handb Clin Neurol, 2011
The expansion of the attct repeat in intron 9 of atxn10 is may caused Spinocerebellar ataxia type 10.
Phosphorylation of Ataxin-10 by polo-like kinase 1 is required for cytokinesis.
Xu et al., Beijing, China. In Cell Cycle, 2011
Plk1 phosphorylates Ataxin-10 on Ser 77 and Thr 82.
CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders.
Krzyzosiak et al., Poznań, Poland. In Rna Biol, 2011
This mechanism has been best characterized in the non-coding repeat disorder DM1 and is also implicated in several other diseases, such as FXTAS, spinocerebellar ataxia type 8 (SCA8), Huntington's disease-like 2 (HDL2), as well as in myotonic dystrophy type 2 (DM2), spinocerebellar ataxia type 10 (SCA10) and type 31 (SCA31).
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Jackson et al., San Francisco, United States. In Cell, 2011
Network building strategy led to the proposal of candidates for new ciliopathy disease genes, leading to the identification of the first human mutations in the Nephronophthisis gene Ataxin10 (ATXN10) and Joubert syndrome gene Tectonic2 (TCTN2).
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.
Wszolek et al., Johnson City, United States. In Orphanet J Rare Dis, 2010
To date, 21 subtypes have been identified: SCA1-SCA4, SCA8, SCA10, SCA12-SCA14, SCA15/16, SCA17-SCA23, SCA25, SCA27, SCA28 and dentatorubral pallidoluysian atrophy (DRPLA).
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10.
Ashizawa et al., Galveston, United States. In Plos Genet, 2010
suggesting that the loss of function of hnRNP K plays a key role in cell death of SCA10.
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.
Héron et al., In Neurogenetics, 2010
Data suggest that SCA10 could be related to chromatin structure abnormalities caused by the expansion and not to an abnormal or abnormally expressed ATXN10.
RNA-mediated neuromuscular disorders.
Cooper et al., Minneapolis, United States. In Annu Rev Neurosci, 2005
This review discusses RNA pathogenesis in DM1 and DM2 and evidence that similar mechanisms may play a role in a growing number of dominant noncoding expansion disorders, including fragile X tremor ataxia syndrome (FXTAS), spinocerebellar ataxia type 8 (SCA8), SCA10, SCA12, and Huntington's disease-like 2 (HDL2).
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
Ashizawa et al., Houston, United States. In Nat Genet, 2000
Spinocerebellar ataxia type 10 (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures.
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