Results 31 to 40 of about 9,929 (238)

Divalproex sodium modulates nuclear localization of ataxin-3 and prevents cellular toxicity caused by expanded ataxin-3. [PDF]

CNS Neurosci Ther, 2018
SummaryBackground & AimsSpinocerebellar ataxia type 3 (SCA3), also known as Machado‐Joseph disease (MJD), is an autosomal dominantly inherited neurodegenerative disorder and the most common form of SCA worldwide. It is caused by the expansion of a polyglutamine (polyQ) tract in the ataxin‐3 protein. Nuclear localization of the affected protein is a
Wang ZJ, Hanet A, Weishäupl D, Martins IM, Sowa AS, Riess O, Schmidt T.   +6 more
europepmc   +5 more sources

Valosin-containing protein (VCP/p97) is an activator of wild-type ataxin-3. [PDF]

PLoS ONE, 2012
Alterations in the ubiquitin-proteasome system (UPS) have been reported in several neurodegenerative disorders characterized by protein misfolding and aggregation, including the polylgutamine diseases.
Mário N Laço, Luisa Cortes, Sue M Travis, Henry L Paulson, A Cristina Rego   +4 more
doaj   +1 more source

Flow cytometry allows rapid detection of protein aggregates in cellular and zebrafish models of spinocerebellar ataxia 3

Disease Models & Mechanisms, 2021
Spinocerebellar ataxia 3 (SCA3, also known as Machado–Joseph disease) is a neurodegenerative disease caused by inheritance of a CAG repeat expansion within the ATXN3 gene, resulting in polyglutamine (polyQ) repeat expansion within the ataxin-3 protein ...
Katherine J. Robinson, Madelaine C. Tym, Alison Hogan, Maxinne Watchon, Kristy C. Yuan, Stuart K. Plenderleith, Emily K. Don, Angela S. Laird   +7 more
doaj   +1 more source

Mouse Ataxin-3 Functional Knock-Out Model [PDF]

NeuroMolecular Medicine, 2010
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 function of the mutant ataxin-3 protein, but the exact mechanism of the disease remains elusive.
Switonski, Pawel M., Fiszer, Agnieszka, Kazmierska, Katarzyna, Kurpisz, Maciej, Krzyzosiak, Wlodzimierz J., Figiel, Maciej   +5 more
core   +4 more sources

Study of subcellular localization and proteolysis of ataxin-3

Neurobiology of Disease, 2008
In this work we investigate subcellular localization and proteolytic cleavage of different forms of ataxin-3 (AT-3), the protein responsible for spinocerebellar ataxia type 3. Normal (AT-3Q6 and AT-3Q26) and pathological (AT-3Q72) ataxins-3, as well as two truncated forms lacking poly-Q, were studied.
Chiara Pozzi, Marco Valtorta, Gabriella Tedeschi, Elena Galbusera, Valentina Pastori, Alessandra Bigi, Simona Nonnis, Eleonora Grassi, Paola Fusi   +8 more
openalex   +5 more sources

Ataxin‐3 is subject to autolytic cleavage [PDF]

The FEBS Journal, 2006
The protein ataxin‐3 is responsible for spinocerebellar ataxia type 3, a neurodegenerative disease triggered when the length of a stretch of consecutive glutamines exceeds a critical threshold. Different physiologic roles have been suggested for this protein.
Pier Luigi Mauri, Matteo Riva, Daniela Ambu, Antonella De Palma, Francesco Secundo, Louise Benazzi, Marco Valtorta, Paolo Tortora, Paola Fusi   +8 more
openaire   +5 more sources

Neurodegenerative phosphoprotein signaling landscape in models of SCA3

Molecular Brain, 2021
Spinocerebellar ataxia type 3 (SCA3) is a rare neurodegenerative disorder resulting from an aberrant expansion of a polyglutamine stretch in the ataxin-3 protein and subsequent neuronal death. The underlying intracellular signaling pathways are currently
Anna S. Sowa, Taissia G. Popova, Tina Harmuth, Jonasz J. Weber, Priscila Pereira Sena, Jana Schmidt, Jeannette Hübener-Schmid, Thorsten Schmidt   +7 more
doaj   +1 more source

PolyQ-expanded ataxin-3 interacts with full-length ataxin-3 in a polyQ length-dependent manner [PDF]

Neuroscience Bulletin, 2008
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is a dominant neurodegenerative disorder caused by an expansion of the polyglutamine (polyQ) tract in MJD-1 gene product, ataxin-3 (AT3). This disease is characterized by the formation of intraneuronal inclusions, but the mechanism underlying their formation is still ...
Na-Li, Jia, Er-Kang, Fei, Zheng, Ying, Hong-Feng, Wang, Guang-Hui, Wang   +4 more
openaire   +2 more sources

Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice. [PDF]

PLoS ONE, 2013
Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph disease, is an autosomal dominantly inherited neurodegenerative disease caused by an expanded polyglutamine stretch in the ataxin-3 protein.
Huu Phuc Nguyen, Jeannette Hübener, Jonasz Jeremiasz Weber, Stephan Grueninger, Olaf Riess, Andreas Weiss   +5 more
doaj   +1 more source

Proteolytic cleavage of polyglutamine-expanded ataxin-3 is critical for aggregation and sequestration of non-expanded ataxin-3 [PDF]

Human Molecular Genetics, 2006
Spinocerebellar ataxia type 3 (SCA3), like other polyglutamine (polyQ) diseases, is characterized by the formation of intraneuronal inclusions, but the mechanism underlying their formation is poorly understood. Here, we tested the "toxic fragment hypothesis", which predicts that proteolytic production of polyQ-containing fragments from the full-length ...
Haacke, A., Broadley, S., Boteva, R., Tzvetkov, N., Hartl, F., Breuer, P.   +5 more
openaire   +3 more sources