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

Ataxin 3

Jos, SCA3, ataxin-3, MJD1
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009] (from NCBI)
Top mentioned proteins: SCA2, AGE, CACNA1A, HAD, CAN
Papers using Jos antibodies
Anti-oligomeric single chain variable domain antibody differentially affects huntingtin and alpha-synuclein aggregates.
Cookson Mark R., In PLoS ONE, 2007
... was PCR-amplified from pQE30-Ataxin-3 (QHQ) and subcloned into pEGFP-C1 (Clontech) using standard cloning techniques ...
Papers on Jos
Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence.
Jardim et al., Rio Grande, Brazil. In Neurogenetics, Feb 2016
UNASSIGNED: Onset of Machado-Joseph disease (SCA3/MJD) before adolescence has been rarely reported.
Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.
Jardim et al., Rio Grande, Brazil. In Clin Genet, Jan 2016
UNASSIGNED: Controversies about mendelian segregation and CAG expansion (CAGexp) instabilities during meiosis in Machado-Joseph disease (SCA3/MJD) need clarification.
Intravenous administration of brain-targeted stable nucleic acid lipid particles alleviates Machado-Joseph disease neurological phenotype.
Pereira de Almeida et al., Coimbra, Portugal. In Biomaterials, Jan 2016
Following optimization of the formulation and in vitro validation of its efficacy to silence the MJD-causing protein - mutant ataxin-3 - in neuronal cells, in vivo experiments showed that intravenous administration of RVG-9r-targeted SNALPs efficiently silenced mutant ataxin-3 reducing neuropathology and motor behavior deficits in two mouse models of MJD.
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.
Toward therapeutic targets for SCA3: Insight into the role of Machado-Joseph disease protein ataxin-3 in misfolded proteins clearance.
Tang et al., Beijing, China. In Prog Neurobiol, Sep 2015
Machado-Joseph disease (MJD, also known as spinocerebellar ataxia type 3, SCA3), an autosomal dominant neurological disorder, is caused by an abnormal expanded polyglutamine (polyQ) repeat in the ataxin-3 protein.
[The study of clinical characteristics and molecular genetics in a large spinocerebellar ataxia3 pedigree].
Zhang et al., Zhengzhou, China. In Zhonghua Yi Xue Za Zhi, Aug 2015
The CAG trinucleotide repeats in SCA3 gene in each sample were amplified by polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis and silver staining techniques.
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.
RNA Sequencing Analysis of the msl2msl3, crl, and ggps1 Mutants Indicates that Diverse Sources of Plastid Dysfunction Do Not Alter Leaf Morphology Through a Common Signaling Pathway.
Haswell et al., Edwardsville, United States. In Front Plant Sci, 2014
Subsequent comparison to the previously published gene expression profiles of two other mutants, yellow variegated 2 (var2) and scabra3 (sca3), failed to reveal a common pattern of gene expression associated with superficially similar leaf morphology defects.
Current understanding of the role of microRNAs in spinocerebellar ataxias.
Krzyzosiak et al., Poznań, Poland. In Cerebellum Ataxias, 2013
Moreover, using the example of SCA type 3 (SCA3), we refer to the issue of prediction and validation of miRNA targets, and we demonstrate that miR-181a-1 may regulate the 3'-UTR of the ATXN3 gene.
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.
Alleviating neurodegeneration in Drosophila models of PolyQ diseases.
Jiang et al., Changsha, China. In Cerebellum Ataxias, 2013
We review promising therapeutic strategies by using Drosophila models of polyQ diseases including HD, SCA1, SCA3 and SBMA.
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.
Ataxin-3 regulates aggresome formation of copper-zinc superoxide dismutase (SOD1) by editing K63-linked polyubiquitin chains.
Wang et al., Suzhou, China. In J Biol Chem, 2012
the sequestration of misfolded SOD1 into aggresomes, which is driven by ataxin-3, plays an important role in attenuating protein misfolding-induced cell toxicity.
Calpastatin-mediated inhibition of calpains in the mouse brain prevents mutant ataxin 3 proteolysis, nuclear localization and aggregation, relieving Machado-Joseph disease.
Pereira de Almeida et al., Coimbra, Portugal. In Brain, 2012
Human calpastatin promotes neuroprotection by decreasing mutant ataxin 3 fragment production in transgenic mice.
Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.
Rouleau et al., Montréal, Canada. In Hum Mol Genet, 2012
we propose that -1 ribosomal frameshifting contributes to the toxicity associated with (exp)CAG repeats.
Temperature profoundly affects ataxin-3 fibrillogenesis.
Regonesi et al., Milano, Italy. In Biochimie, 2012
These results underscore ataxin 3 capability of undergoing multiple aggregation pathways that lead to end products endowed with substantially different molecular structures.
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.
Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease.
Brüstle et al., Bonn, Germany. In Nature, 2012
-glutamate-induced excitation of patient-specific induced pluripotent stem cell (iPSC)-derived neurons initiates Ca(2+)-dependent proteolysis of ATXN3 followed by the formation of SDS-insoluble aggregates
The Machado-Joseph disease deubiquitylase ATX-3 couples longevity and proteostasis.
Hoppe et al., Hamburg, Germany. In Nat Cell Biol, 2011
Here we report a synergistic cooperation between CDC-48 and ATX-3 (the Caenorhabditis elegans orthologue of ataxin-3) in ubiquitin-mediated proteolysis and ageing regulation.
Allele-specific silencing of mutant huntingtin and ataxin-3 genes by targeting expanded CAG repeats in mRNAs.
Corey et al., Dallas, United States. In Nat Biotechnol, 2009
These include Machado-Joseph disease (MJD) and Huntington's disease (HD), which are caused by expanded CAG repeats within an allele of the ataxin-3 (ATXN3) and huntingtin (HTT) genes, respectively.
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