The Machado–Joseph disease‐associated form of ataxin‐3 impacts dynamics of clathrin‐coated pits
Sign Up to like & getrecommendations! Published in 2020 at "Cell Biology International"
DOI: 10.1002/cbin.11312
Abstract: Expansion above a certain threshold in the polyglutamine (polyQ) tract of ataxin‐3 is the main cause of neurodegeneration in Machado–Joseph disease. Ataxin‐3 contains an N‐terminal catalytic domain, called Josephin domain, and a highly aggregation‐prone C‐terminal… read more here.
Keywords: impacts dynamics; ataxin; machado joseph; dynamics clathrin ... See more keywords
Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events.
Sign Up to like & getrecommendations! Published in 2018 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-71779-1_12
Abstract: Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia reported worldwide, but it shows marked geographic differences in prevalence. The study of ancestral origins and spreading routes of MJD mutational events has contributed… read more here.
Keywords: origins spread; joseph; machado joseph; spread machado ... See more keywords
Spastic paraparesis as the first manifestation of Machado-Joseph disease: A case report and review of the literature
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Neurology and Neurosurgery"
DOI: 10.1016/j.clineuro.2018.06.037
Abstract: Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3, is characterized by remarkable clinical heterogeneity. We present a MJD family in which variable phenotypes were noted in affected members, including one presenting predominantly with spastic paraparesis.… read more here.
Keywords: machado joseph; spastic paraparesis; review literature; paraparesis ... See more keywords
Generation of human iPS cell line IBCHi002-A from spinocerebellar ataxia type 3/Machado-Joseph disease patient's fibroblasts.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101796
Abstract: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is autosomal-dominant neurodegenerative disease caused by an expansion of polyglutamine-encoding CAG repeats in the ATXN3 gene. Here we established IBCHi002-A induced pluripotent stem cells… read more here.
Keywords: ataxia type; patient fibroblasts; spinocerebellar ataxia; machado joseph ... See more keywords
Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0308-y
Abstract: This paper reports accounts from people at-risk for, or affected by, Machado-Joseph disease, and their family members, about their decisions not to seek pre-symptomatic testing, therefore remaining (for the time) uninformed about their genetic status.… read more here.
Keywords: machado joseph; pre symptomatic; non engagement; family ... See more keywords
Pharmacotherapy for the management of the symptoms of Machado-Joseph Disease
Sign Up to like & getrecommendations! Published in 2022 at "Expert Opinion on Pharmacotherapy"
DOI: 10.1080/14656566.2022.2135432
Abstract: ABSTRACT Introduction Machado-Joseph disease or spinocerebellar ataxia type 3 (SCA3/MJD) is the leading cause of autosomal dominant ataxia worldwide. This is a slowly progressive, but very disabling disorder. Ataxia is the main clinical feature, but… read more here.
Keywords: pharmacotherapy; machado joseph; disease; management ... See more keywords
The Machado–Joseph disease deubiquitylase ataxin‐3 interacts with LC3C/GABARAP and promotes autophagy
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DOI: 10.1111/acel.13051
Abstract: The pathology of spinocerebellar ataxia type 3, also known as Machado‐Joseph disease, is triggered by aggregation of toxic ataxin‐3 (ATXN3) variants containing expanded polyglutamine repeats. The physiological role of this deubiquitylase, however, remains largely unclear.… read more here.
Keywords: joseph disease; machado joseph; deubiquitylase; lc3c gabarap ... See more keywords
Deregulation of autophagy in postmortem brains of Machado‐Joseph disease patients
Sign Up to like & getrecommendations! Published in 2018 at "Neuropathology"
DOI: 10.1111/neup.12433
Abstract: Autophagy, the major pathway for protein turnover, is critical to maintain cellular homeostasis and has been implicated in neurodegenerative diseases. The aim of this research was to analyze the expression of autophagy markers in postmortem… read more here.
Keywords: mjd patients; machado joseph; brains machado; postmortem brains ... See more keywords
Trehalose alleviates the phenotype of Machado–Joseph disease mouse models
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Translational Medicine"
DOI: 10.1186/s12967-020-02302-2
Abstract: Background Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is the most common of the dominantly inherited ataxias worldwide and is characterized by mutant ataxin-3 aggregation and neuronal degeneration. There is no treatment… read more here.
Keywords: mjd; machado joseph; disease; joseph disease ... See more keywords
A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3
Sign Up to like & getrecommendations! Published in 2017 at "Brain"
DOI: 10.15496/publikation-20889
Abstract: Ataxin-3, the disease protein in Machado-Joseph disease, is known to be proteolytically modified by various enzymes including two major families of proteases, caspases and calpains. This processing results in the generation of toxic fragments of… read more here.
Keywords: calpain; cleavage; machado joseph; cleavage sites ... See more keywords
Paula Coutinho's outstanding contribution to the definition of Machado-Joseph disease.
Sign Up to like & getrecommendations! Published in 2017 at "Arquivos de neuro-psiquiatria"
DOI: 10.1590/0004-282x20170127
Abstract: Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common form of autosomal dominant ataxia in the world. Paula Coutinho, a highly-regarded Portuguese neurologist worldwide, had a seminal participation in the definition… read more here.
Keywords: joseph disease; machado joseph; paula coutinho; disease ... See more keywords