Results 41 to 50 of about 13,262,735 (197)

Silencing ataxin-3 mitigates degeneration in a rat model of Machado–Joseph disease: no role for wild-type ataxin-3? [PDF]

Human Molecular Genetics, 2010
Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) is a fatal, autosomal dominant disorder caused by a cytosine-adenine-guanine expansion in the coding region of the MJD1 gene. RNA interference has potential as a therapeutic approach but raises the issue of the role of wild-type ataxin-3 (WT ATX3) in MJD and of whether the expression of
Sandro, Alves, Isabel, Nascimento-Ferreira, Noëlle, Dufour, Raymonde, Hassig, Gwennaëlle, Auregan, Clévio, Nóbrega, Emmanuel, Brouillet, Philippe, Hantraye, Maria C, Pedroso de Lima, Nicole, Déglon, Luís Pereira, de Almeida   +10 more
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SUMO-1 modification on K166 of polyQ-expanded ataxin-3 strengthens its stability and increases its cytotoxicity. [PDF]

PLoS ONE, 2013
Post-translational modification by SUMO was proposed to modulate the pathogenesis of several neurodegenerative diseases. Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disease caused by polyQ ...
Ya-Fang Zhou, Shu-Sheng Liao, Ying-Ying Luo, Jian-Guang Tang, Jun-Ling Wang, Li-Fang Lei, Jing-Wei Chi, Juan Du, Hong Jiang, Kun Xia, Bei-Sha Tang, Lu Shen   +11 more
doaj   +1 more source

Mutant ataxin-3 promotes the autophagic degradation of parkin [PDF]

Autophagy, 2011
There is growing evidence that autophagy plays a key role in neurodegenerative diseases. For instance, stimulating autophagy is neuroprotective both in vitro and in vivo in models of trinucleotide-repeat diseases such as Machado-Joseph disease (MJD). Similarly, proteins associated with familial forms of Parkinson disease (PD) such as parkin and PINK1 ...
Thomas M, Durcan, Edward A, Fon
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Antibody Characterization Report for Ataxin-3

, 2021
Head-to-head comparison of available commercial antibodies against Ataxin-3 by immunoblot (Western blot), immunoprecipitation and immunofluorescence. The following study was funded in part by Genome Québec's Genomics Integration Program, awarded to the research laboratory of Peter S. McPherson.
Villegas, Lorenza, Alshafie, Walaa, Fotouhi, Maryam, You, Zhipeng, Durcan, Thomas M., McPherson, Peter S., Laflamme, Carl   +6 more
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Ataxin-3 is transported into the nucleus and associates with the nuclear matrix [PDF]

Human Molecular Genetics, 1998
It has been reported that the ataxin-3 protein containing a polyglutamine sequence in the pathological range (61-84Q) is localized within the nucleus of neuronal cells, whereas ataxin-3 with a normal repeat length (12-37Q) is predominantly a cytoplasmic protein.
D. Tait, RICCIO, Massimo, A. Sittler, E. Scherzinger, S. Santi, A. Ognibene, N. M. Maraldi, H. Lehrach, E. E. Wanker   +8 more
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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
openaire   +2 more sources

Characterization of the Conformational Fluctuations in the Josephin Domain of Ataxin-3 [PDF]

Biophysical Journal, 2014
As for a variety of other molecular recognition processes, conformational fluctuations play an important role in the cleavage of polyubiquitin chains by the Josephin domain of ataxin-3. The interaction between Josephin and ubiquitin appears to be mediated by the motions of α-helical hairpin that is unusual among deubiquitinating enzymes.
Sanfelice Domenico, De Simone Alfonso, Cavalli Andrea, Faggiano Serena, Vendruscolo Michele, Pastore Annalisa   +5 more
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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.
C. Pozzi, VALTORTA, MARCO, G. Tedeschi, E. Galbusera, V. Pastori, A. Bigi, S. Nonnis, GRASSI, ELEONORA, P. Fusi   +8 more
openaire   +4 more sources

Proteotoxic stress increases nuclear localization of ataxin-3 [PDF]

Human Molecular Genetics, 2009
Spinocerebellar ataxia type 3 (SCA3)/Machado Joseph disease results from expansion of the polyglutamine domain in ataxin-3 (Atx3). Atx3 is a transcriptional co-repressor, as well as a deubiquitinating enzyme that appears to function in cellular pathways involved in protein homeostasis.
Christopher P, Reina, Xiaoyan, Zhong, Randall N, Pittman   +2 more
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HDAC inhibitor sodium butyrate reverses transcriptional downregulation and ameliorates ataxic symptoms in a transgenic mouse model of SCA3

Neurobiology of Disease, 2011
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disease caused by polyglutamine-expanded ataxin-3. Previously, we prepared a SCA3 animal model by generating transgenic mice expressing disease-causing ataxin-3-Q79.
An-Hsun Chou, Si-Ying Chen, Tu-Hsueh Yeh, Yi-Hsin Weng, Hung-Li Wang   +4 more
doaj   +1 more source