[HTML][HTML] Physiological and pathophysiological characteristics of ataxin-3 isoforms
D Weishäupl, J Schneider, BP Pinheiro… - Journal of Biological …, 2019 - ASBMB
Ataxin-3 is a deubiquitinating enzyme and the affected protein in the neurodegenerative
disorder Machado–Joseph disease (MJD). The ATXN3 gene is alternatively spliced …
disorder Machado–Joseph disease (MJD). The ATXN3 gene is alternatively spliced …
Ataxin-3 binds VCP/p97 and regulates retrotranslocation of ERAD substrates
X Zhong, RN Pittman - Human molecular genetics, 2006 - academic.oup.com
Expansion of a polyglutamine tract in ataxin-3 (AT3) results in spinocerebellar ataxia type
3/Machado–Joseph disease, one of the nine polyglutamine neurodegenerative diseases …
3/Machado–Joseph disease, one of the nine polyglutamine neurodegenerative diseases …
[HTML][HTML] ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology
YC Lam, AB Bowman, P Jafar-Nejad, J Lim, R Richman… - Cell, 2006 - cell.com
Summary Spinocerebellar ataxia type 1 (SCA1) is one of several neurodegenerative
diseases caused by expansion of a polyglutamine tract in the disease protein, in this case …
diseases caused by expansion of a polyglutamine tract in the disease protein, in this case …
[HTML][HTML] A new humanized ataxin-3 knock-in mouse model combines the genetic features, pathogenesis of neurons and glia and late disease onset of SCA3/MJD
PM Switonski, WJ Szlachcic, WJ Krzyzosiak… - Neurobiology of …, 2015 - Elsevier
Abstract Spinocerebellar ataxia type 3 (SCA3/MJD) is a neurodegenerative disease
triggered by the expansion of CAG repeats in the ATXN3 gene. Here, we report the …
triggered by the expansion of CAG repeats in the ATXN3 gene. Here, we report the …
Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications
Pathogenic CAG (cytosine-adenine-guanine) expansions beyond certain thresholds in the
ataxin-2 (ATXN2) gene cause spinocerebellar ataxia type 2 (SCA2) and were shown to …
ataxin-2 (ATXN2) gene cause spinocerebellar ataxia type 2 (SCA2) and were shown to …
Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein
JD Davidson, B Riley, EN Burright… - Human molecular …, 2000 - academic.oup.com
Expansion of a polyglutamine tract within ataxin-1 causes spinocerebellar ataxia type 1
(SCA1). In this study, we used the yeast two-hybrid system to identify an ataxin-1-interacting …
(SCA1). In this study, we used the yeast two-hybrid system to identify an ataxin-1-interacting …
[HTML][HTML] Silencing mutant ATXN3 expression resolves molecular phenotypes in SCA3 transgenic mice
E Rodríguez-Lebrón, M doCarmo Costa… - Molecular Therapy, 2013 - cell.com
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a
polyglutamine expansion in the deubiquitinating enzyme, Ataxin-3. Currently, there are no …
polyglutamine expansion in the deubiquitinating enzyme, Ataxin-3. Currently, there are no …
[HTML][HTML] Ubiquitin-binding site 2 of ataxin-3 prevents its proteasomal degradation by interacting with Rad23
Polyglutamine repeat expansion in ataxin-3 causes neurodegeneration in the most common
dominant ataxia, spinocerebellar ataxia type 3 (SCA3). Since reducing levels of disease …
dominant ataxia, spinocerebellar ataxia type 3 (SCA3). Since reducing levels of disease …
[HTML][HTML] Mouse ataxin-3 functional knock-out model
PM Switonski, A Fiszer, K Kazmierska, M Kurpisz… - Neuromolecular …, 2011 - Springer
Abstract Spinocerebellar ataxia 3 (SCA3) is a genetic disorder resulting from the expansion
of the CAG repeats in the ATXN3 gene. The pathogenesis of SCA3 is based on the toxic …
of the CAG repeats in the ATXN3 gene. The pathogenesis of SCA3 is based on the toxic …
[HTML][HTML] The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins
H Tsuda, H Jafar-Nejad, AJ Patel, Y Sun, HK Chen… - Cell, 2005 - cell.com
Summary Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by
an expanded glutamine tract in human Ataxin-1 (hAtx-1). The expansion stabilizes hAtx-1 …
an expanded glutamine tract in human Ataxin-1 (hAtx-1). The expansion stabilizes hAtx-1 …