[HTML][HTML] Pathogenesis of SCA3 and implications for other polyglutamine diseases

HS McLoughlin, LR Moore, HL Paulson - Neurobiology of disease, 2020 - Elsevier
Tandem repeat diseases include the neurodegenerative disorders known as polyglutamine
(polyQ) diseases, caused by CAG repeat expansions in the coding regions of the respective …

Toward understanding Machado–Joseph disease

M do Carmo Costa, HL Paulson - Progress in neurobiology, 2012 - Elsevier
Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is
the most common inherited spinocerebellar ataxia and one of many polyglutamine …

Alternative systems for misfolded protein clearance: life beyond the proteasome

HE Johnston, RS Samant - The FEBS journal, 2021 - Wiley Online Library
Protein misfolding is a major driver of ageing‐associated frailty and disease pathology.
Although all cells possess multiple, well‐characterised protein quality control systems to …

Machado–Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy

CA Matos, LP de Almeida… - Journal of …, 2019 - Wiley Online Library
Abstract Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3
(SCA 3), is an incurable disorder, widely regarded as the most common form of …

Polyglutamine diseases: the special case of ataxin-3 and Machado–Joseph disease

CA Matos, S de Macedo-Ribeiro, AL Carvalho - Progress in neurobiology, 2011 - Elsevier
Polyglutamine (polyQ) diseases are a group of nine neurodegenerative disorders caused by
an unstable CAG expansion in the codifying region of their respective associated genes …

Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans : rescue by the DAF-16 and HSF-1 pathways

A Teixeira-Castro, M Ailion, A Jalles… - Human molecular …, 2011 - academic.oup.com
The risk of developing neurodegenerative diseases increases with age. Although many of
the molecular pathways regulating proteotoxic stress and longevity are well characterized …

Toward therapeutic targets for SCA3: Insight into the role of Machado–Joseph disease protein ataxin-3 in misfolded proteins clearance

X Li, H Liu, PL Fischhaber, TS Tang - Progress in neurobiology, 2015 - Elsevier
Machado–Joseph disease (MJD, also known as spinocerebellar ataxia type 3, SCA3), an
autosomal dominant neurological disorder, is caused by an abnormal expanded …

Ataxin-3 promotes genome integrity by stabilizing Chk1

Y Tu, H Liu, X Zhu, H Shen, X Ma, F Wang… - Nucleic acids …, 2017 - academic.oup.com
The Chk1 protein is essential for genome integrity maintenance and cell survival in
eukaryotic cells. After prolonged replication stress, Chk1 can be targeted for proteasomal …

Trinucleotide repeats: a structural perspective

B Almeida, S Fernandes, IA Abreu… - Frontiers in …, 2013 - frontiersin.org
Trinucleotide repeat (TNR) expansions are present in a wide range of genes involved in
several neurological disorders, being directly involved in the molecular mechanisms …

[HTML][HTML] Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death

AJ Rodrigues, M do Carmo Costa, TL Silva… - … et Biophysica Acta (BBA …, 2010 - Elsevier
Ataxin-3 (ATXN3) is a widely expressed protein that binds to ubiquitylated proteins, has
deubiquitylating activity in vitro and is thought to modulate substrate degradation through the …