Astragaloside IV reduces mutant Ataxin-3 levels and supports mitochondrial function in Spinocerebellar Ataxia Type 3 [PDF]
Scientific ReportsThis study investigated the therapeutic effects of astragaloside IV (AST) on spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), a neurodegenerative disorder.
Yongshiou Lin +5 more
doaj +2 more sources
Structural modeling of ataxin-3 reveals distant homology to adaptins
Proteins: Structure, Function, and Bioinformatics, 2022 S.355-370Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine disorder caused by a CAG repeat expansion in the coding region of a gene encoding ataxin-3, a protein of yet unknown function.
Wüllner, U. +5 more
core +5 more sources
Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3 [PDF]
Frontiers in Molecular Neuroscience, 2018 Alterations in mitochondrial morphology and function have been linked to neurodegenerative diseases, including Parkinson disease, Alzheimer disease and Huntington disease.
Tina Harmuth +23 more
doaj +2 more sources
Differential toxicity of ataxin-3 isoforms in Drosophila models of Spinocerebellar Ataxia Type 3 [PDF]
Neurobiology of Disease, 2019 The most commonly inherited dominant ataxia, Spinocerebellar Ataxia Type 3 (SCA3), is caused by a CAG repeat expansion that encodes an abnormally long polyglutamine (polyQ) repeat in the disease protein ataxin-3, a deubiquitinase.
Sean L. Johnson +6 more
doaj +2 more sources
Biophysical Characterisation of the Josephin Domain of Ataxin-3
, 2017 The misfolding and subsequent aggregation of proteins underpins a large number of conditions called conformational diseases. Many of these diseases are caused by genetic mutations in protein coding regions.
Christopher Lupton (3728302)
core +2 more sources
Ataxin 1 and Ataxin 3 in Neuronal Intranuclear Inclusion Disease
Annals of Neurology, 1999 Neuronal intranuclear inclusion disease (NIID) is a multisystem neurodegenerative disorder characterized by large intranuclear aggregates in neurons of the central and peripheral nervous system.
BARNETT JL +8 more
core +4 more sources
Physiological and pathophysiological characteristics of ataxin-3 isoforms. [PDF]
J Biol Chem, 2019 Ataxin-3 is a deubiquitinating enzyme and the affected protein in the neurodegenerative disorder Machado-Joseph disease (MJD). The ATXN3 gene is alternatively spliced, resulting in protein isoforms that differ in the number of ubiquitin-interacting motifs.
Weishäupl D +9 more
europepmc +5 more sources
Disease Models & Mechanisms, 2021 Spinocerebellar ataxia 3 (SCA3, also known as Machado–Joseph disease) is a neurodegenerative disease caused by inheritance of a CAG repeat expansion within the ATXN3 gene, resulting in polyglutamine (polyQ) repeat expansion within the ataxin-3 protein ...
Katherine J. Robinson +7 more
doaj +1 more source
Divalproex sodium modulates nuclear localization of ataxin-3 and prevents cellular toxicity caused by expanded ataxin-3. [PDF]
CNS Neurosci Ther, 2018 SummaryBackground & AimsSpinocerebellar ataxia type 3 (SCA3), also known as Machado‐Joseph disease (MJD), is an autosomal dominantly inherited neurodegenerative disorder and the most common form of SCA worldwide. It is caused by the expansion of a polyglutamine (polyQ) tract in the ataxin‐3 protein. Nuclear localization of the affected protein is a
Wang ZJ +6 more
europepmc +5 more sources
Ataxin‐3 is subject to autolytic cleavage [PDF]
The FEBS Journal, 2006 The protein ataxin‐3 is responsible for spinocerebellar ataxia type 3, a neurodegenerative disease triggered when the length of a stretch of consecutive glutamines exceeds a critical threshold. Different physiologic roles have been suggested for this protein.
Pier Luigi Mauri +8 more
openaire +5 more sources