Alteration of methylation status in the ATXN3 gene promoter region is linked to the SCA3/MJD
Sign Up to like & getrecommendations! Published in 2017 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2016.12.014
Abstract: DNA methylation has been acknowledged as one of the key epigenetic mechanisms involved in the regulation of gene expression and genomic functions. Alteration of the DNA methylation level has been linked to modification of the… read more here.
Keywords: methylation; sca3 mjd; promoter; gene ... See more keywords
Polyglutamine-expanded ataxin3 alter specific gene expressions through changing DNA methylation status in SCA3/MJD.
Sign Up to like & getrecommendations! Published in 2020 at "Aging"
DOI: 10.18632/aging.202331
Abstract: DNA methylation has recently been linked to transcriptional dysregulation and neuronal dysfunction in polyglutamine (polyQ) disease. This study aims to determine whether (CAG)n expansion in ATXN3 perturbs DNA methylation status and affects gene expression. We… read more here.
Keywords: sca3 mjd; methylation; dna methylation; methylation status ... See more keywords
MR Imaging of SCA3/MJD
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DOI: 10.3389/fnins.2020.00749
Abstract: Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a progressive autosomal dominantly inherited cerebellar ataxia characterized by the aggregation of polyglutamine-expanded protein within neuronal nuclei in the brain, which can lead to brain damage that precedes… read more here.
Keywords: imaging sca3; sca3 mjd; brain; magnetic resonance ... See more keywords
Broad Influence of Mutant Ataxin-3 on the Proteome of the Adult Brain, Young Neurons, and Axons Reveals Central Molecular Processes and Biomarkers in SCA3/MJD Using Knock-In Mouse Model
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2021.658339
Abstract: Spinocerebellar ataxia type 3 (SCA3/MJD) is caused by CAG expansion mutation resulting in a long polyQ domain in mutant ataxin-3. The mutant protein is a special type of protease, deubiquitinase, which may indicate its prominent… read more here.
Keywords: sca3 mjd; sca3; model; mutant ataxin ... See more keywords