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Ataxin 2

SCA2, ataxin-2
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. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010] (from NCBI)
Top mentioned proteins: Jos, AGE, CACNA1A, HAD, SCA7
Papers on SCA2
Pattern of Peripheral Nerve Involvement in Spinocerebellar Ataxia Type 2: a Neurophysiological Assessment.
Barsottini et al., São Paulo, Brazil. In Cerebellum, Jan 2016
UNASSIGNED: Peripheral neuropathy is frequent in spinocerebellar ataxia type 2 (SCA2), but the pattern and characteristics of nerve involvement are still an unsettled issue.
Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease.
Pereira de Almeida et al., Coimbra, Portugal. In Brain, Dec 2015
With the aim of clarifying the mechanism of neurodegeneration, we hypothesized that the abnormally long polyQ tract would interact aberrantly with ataxin-2 (encoded by ATXN2), another polyQ protein whose function has recently been linked to translational regulation.
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.
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study.
Klockgether et al., Bonn, Germany. In Lancet Neurol, Nov 2015
We aimed to study the long-term disease progression of the most common spinocerebellar ataxias: SCA1, SCA2, SCA3, and SCA6.
Fragment based G-QSAR and molecular dynamics based mechanistic simulations into hydroxamic-based HDAC inhibitors against spinocerebellar ataxia.
Grover et al., New Delhi, India. In J Biomol Struct Dyn, Nov 2015
UNASSIGNED: Expansion of polyglutamine (CAG) triplets within the coding gene ataxin 2 results in transcriptional repression, forming the molecular basis of the neurodegenerative disorder named spinocerebellar ataxia type-2 (SCA2).
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.
Parkinsonism in spinocerebellar ataxia.
Jeon et al., Seoul, South Korea. In Biomed Res Int, 2014
Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence.
12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?
Başak et al., Frankfurt am Main, Germany. In World J Diabetes, 2014
Genetic linkage analyses, genome-wide association studies of single nucleotide polymorphisms, copy number variation surveys, and mutation screenings found the human chromosomal 12q24 locus, with the genes SH2B3 and ATXN2 in its core, to be associated with an exceptionally wide spectrum of disease susceptibilities.
Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study.
Laffita-Mesa et al., Holguín, Cuba. In Lancet Neurol, 2014
BACKGROUND: The effects of ATXN2 expansion on the nervous system arise before the cerebellar syndrome can be diagnosed; however, progression of the underlying early clinical manifestations is unknown.
Therapeutic modulation of eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models.
Bonini et al., Philadelphia, United States. In Nat Genet, 2014
A unifying feature of many proteins associated with ALS, including TDP-43 and ataxin-2, is that they localize to stress granules.
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.
Loew et al., Rochester, United States. In Front Neurosci, 2013
The models predict IP3R1 supersensitivity in SCA1 and compensatory mechanisms in SCA1, SCA2, and SCA3.
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Coutinho et al., Feira, Portugal. In Neuroepidemiology, 2013
Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6.
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.
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data.
Klockgether et al., Bonn, Germany. In Lancet Neurol, 2013
Our aim was to study the preclinical stage of the most common SCAs: SCA1, SCA2, SCA3, and SCA6.
A role for Drosophila ATX2 in activation of PER translation and circadian behavior.
Emery et al., Worcester, United States. In Science, 2013
We found that the Drosophila homolog of ATAXIN-2 (ATX2)--an RNA-binding protein implicated in human neurodegenerative diseases--was required for circadian locomotor behavior.
ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling.
Mariotti et al., Milano, Italy. In Neurobiol Aging, 2012
our findings indicate that only ATAXIN-2 alleles with >/= 31 CAG may represent low-penetrance disease/susceptibility alleles associated with variable neurodegenerative phenotypes, including cerebellar ataxia, parkinsonism, and ALS.
ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications.
Gitler et al., Stanford, United States. In J Neurosci, 2012
Ataxin 2 intermediate length polyQ expansions contribute to amyotrophic lateral sclerosis, by enhancing stress-induced TAR DNA-binding protein (TDP)-43 pathological modifications via caspase 3 activation.
Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications.
Aguiar Santiago et al., Holguín, Cuba. In Hum Genet, 2012
Study shows a regulatory mechanism of ATXN2 expression involving an epigenetic event resulting in differential disease course in spinocerebellar ataxia type 2 (SCA2) patients.
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.
Durr et al., Paris, France. In Arch Neurol, 2012
This study demonistrated that Disease progressed of autosomal dominant cerebellar ataxia and spastic paraplegia faster in SCA s with polyglutamine expansions in SCA1, 2, and 3.
FOX-2 dependent splicing of ataxin-2 transcript is affected by ataxin-1 overexpression.
Krobitsch et al., Berlin, Germany. In Plos One, 2011
FOX-2 is involved in splicing of ataxin-2 transcripts and that this splicing event is altered by overexpression of ataxin-1
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