Observation of liquid-liquid phase separation of ataxin-3 and quantitative evaluation of its concentration in a single droplet using Raman microscopy. [PDF]
Chem Sci, 2021 Liquid–liquid phase separation (LLPS) plays an important role in a variety of biological processes and is also associated with protein aggregation in neurodegenerative diseases.
Murakami K +5 more
europepmc +2 more sources
Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3. [PDF]
Parkinsonism Relat Disord, 2021 Introduction: Accumulation of polyglutamine (polyQ) ataxin-3 (ATXN3) contributes to the pathobiology of spinocerebellar ataxia type 3 (SCA3). Recently, we showed that polyQ ATXN3 is elevated in the plasma and cerebrospinal fluid (CSF) of SCA3 patients ...
Koike Y +25 more
europepmc +2 more sources
Conformational behavior and aggregation of ataxin-3 in SDS. [PDF]
PLoS ONE, 2013 Spinocerebellar ataxia type 3 (SCA3) is one of nine polyglutamine (polyQ) diseases all characterized by the presence of intraneuronal inclusions that contain aggregated protein.
Helen M Saunders +3 more
doaj +5 more sources
Pathophysiological interplay between O-GlcNAc transferase and the Machado-Joseph disease protein ataxin-3. [PDF]
Proc Natl Acad Sci U S A, 2021 Significance Machado–Joseph disease (MJD) is an incurable neurodegenerative disorder caused by a mutation in the ataxin-3 protein, which becomes toxic and induces cerebellar degeneration and motor impairments.
Pereira Sena P +13 more
europepmc +2 more sources
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. [PDF]
Front Mol Neurosci, 2021 Spinocerebellar ataxia type 3 (SCA3/MJD) has a polyQ etiology but, the current knowledge on molecular processes and proteins involved in pathogenesis is not sufficient to fully determine the disease mechanism and find drug targets.
Wiatr K +5 more
europepmc +2 more sources
Polyglutamine-Expanded Ataxin-3 Accelerates CFTR Degradation Through K63-Linked Ubiquitination to Exacerbate Microglial Inflammation. [PDF]
ASN NeuroThe deubiquitinase Ataxin-3 causes spinocerebellar ataxia type 3 (SCA3) upon polyglutamine (polyQ) expansion. While expressed in the nervous system, the function of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel therein ...
Wang Z +11 more
europepmc +2 more sources
Heterogeneous Intracellular Localization and Expression of Ataxin-3
Neurobiology of Disease, 1998 Spinocerebellar ataxia type 3 or Machado–Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disorder caused by an unstable and expanded CAG trinucleotide repeat that leads to the expansion of a polyglutamine tract in a protein of ...
Yvon Trottier +7 more
doaj +3 more sources
Neurobiology of Disease, 2008 In the present study, we prepared a SCA3 animal model by generating transgenic mice expressing polyglutamine-expanded ataxin-3-Q79. Ataxin-3-Q79 was expressed in brain areas implicated in SCA3 neurodegeneration, including cerebellum, pontine nucleus and ...
Tu-Hsueh Yeh +2 more
exaly +3 more sources
Nucleocytoplasmic shuttling activity of ataxin-3. [PDF]
PLoS ONE, 2009 Spinocerebellar ataxia type-3, also known as Machado-Joseph Disease (MJD), is one of many inherited neurodegenerative disorders caused by polyglutamine-encoding CAG repeat expansions in otherwise unrelated genes.
Sandra Macedo-Ribeiro +3 more
doaj +5 more sources
Ubiquitin-interacting motifs of ataxin-3 regulate its polyglutamine toxicity through Hsc70-4-dependent aggregation [PDF]
eLife, 2020 Spinocerebellar ataxia type 3 (SCA3) belongs to the family of polyglutamine neurodegenerations. Each disorder stems from the abnormal lengthening of a glutamine repeat in a different protein. Although caused by a similar mutation, polyglutamine disorders
Sean L Johnson +4 more
doaj +2 more sources