Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin‐1

A Mizutani, L Wang, H Rajan, PJS Vig… - The EMBO …, 2005 - embopress.org
Ataxin‐1 is a neurodegenerative disorder protein whose glutamine‐repeat expanded form
causes spinocerebellar ataxia type 1 (SCA1) in humans and exerts cytotoxicity in Drosophila …

ATXN1-CIC complex is the primary driver of cerebellar pathology in spinocerebellar ataxia type 1 through a gain-of-function mechanism

MWC Rousseaux, T Tschumperlin, HC Lu, EP Lackey… - Neuron, 2018 - cell.com
Polyglutamine (polyQ) diseases are caused by expansion of translated CAG repeats in
distinct genes leading to altered protein function. In spinocerebellar ataxia type 1 (SCA1), a …

Preventing Ataxin-3 protein cleavage mitigates degeneration in a Drosophila model of SCA3

J Jung, K Xu, D Lessing… - Human molecular genetics, 2009 - academic.oup.com
Protein cleavage is a common feature in human neurodegenerative disease. Ataxin-3
protein with an expanded polyglutamine (polyQ) repeat causes spinocerebellar ataxia type …

Interaction of the polyglutamine protein ataxin-3 with Rad23 regulates toxicity in Drosophila models of Spinocerebellar Ataxia Type 3

JR Sutton, JR Blount, K Libohova… - Human molecular …, 2017 - academic.oup.com
Polyglutamine (polyQ) repeat expansion in the deubiquitinase ataxin-3 causes
neurodegeneration in Spinocerebellar Ataxia Type 3 (SCA3), one of nine inherited …

SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776

L Duvick, J Barnes, B Ebner, S Agrawal, M Andresen… - Neuron, 2010 - cell.com
Glutamine tract expansion triggers nine neurodegenerative diseases by conferring toxic
properties to the mutant protein. In SCA1, phosphorylation of ATXN1 at Ser776 is thought to …

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 …

Phosphorylation of S776 and 14-3-3 binding modulate ataxin-1 interaction with splicing factors

C de Chiara, RP Menon, M Strom, TJ Gibson… - PLoS one, 2009 - journals.plos.org
Ataxin-1 (Atx1), a member of the polyglutamine (polyQ) expanded protein family, is
responsible for spinocerebellar ataxia type 1. Requirements for developing the disease are …

Ataxin-3 with an altered conformation that exposes the polyglutamine domain is associated with the nuclear matrix

MK Perez, HL Paulsonl… - Human molecular …, 1999 - academic.oup.com
Spinocerebellar ataxia type-3 or Machado-Joseph disease (SCA3/MJD) is a member of the
CAG/poly-glutamine repeat disease family. In this family of disorders, a normally …

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

M Prudencio, H Garcia-Moreno… - Science translational …, 2020 - science.org
Spinocerebellar ataxia type 3 (SCA3), caused by a CAG repeat expansion in the ataxin-3
gene (ATXN3), is characterized by neuronal polyglutamine (polyQ) ATXN3 protein …

Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment

S Mookerjee, T Papanikolaou, SJ Guyenet… - Journal of …, 2009 - Soc Neuroscience
Polyglutamine (polyQ) expansion within the ataxin-7 protein, a member of the STAGA [SPT3-
TAF (II) 31-GCN5L acetylase] and TFTC (GCN5 and TRRAP) chromatin remodeling …