Results 61 to 70 of about 19,027,943 (182)

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
openaire   +6 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
openaire   +2 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.
C. Pozzi, VALTORTA, MARCO, G. Tedeschi, E. Galbusera, V. Pastori, A. Bigi, S. Nonnis, GRASSI, ELEONORA, P. Fusi   +8 more
openaire   +4 more sources

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

Ataxin-3 promotes genome integrity by stabilizing Chk1. [PDF]

Nucleic Acids Res, 2017
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 degradation to terminate checkpoint signaling after DNA repair finishes. To ensure proper activation of DNA damage checkpoint and DNA repair signaling, a steady-state level of ...
Tu Y, Liu H, Zhu X, Shen H, Ma X, Wang F, Huang M, Gong J, Li X, Wang Y, Guo C, Tang TS.   +11 more
europepmc   +4 more sources

Differential impact of mutant Ataxin-3 in hindbrain regions: further evidence of white matter loss as a core pathological feature.

Experimental Neurology
Spinocerebellar ataxia type 3 (SCA3) is a devasting neurodegenerative disorder that belongs to the family of polyglutamine disorders. Although the CAG repeat expansion underlying SCA3 was discovered 30 years ago, there is still no cure or treatment able ...
C. Henriques, Marta S. Silva, António Silva, David Rufino-Ramos, Miguel M. Lopes, R. Badin, Philippe Hantraye, Luís Pereira de Almeida, R. Nobre   +8 more
semanticscholar   +1 more source

Casein kinase 2 interacts with and phosphorylates ataxin-3 [PDF]

Neuroscience Bulletin, 2008
Machado-Joseph disease (MJD)/Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by an expansion of polyglutamine tract near the C-terminus of the MJD1 gene product, ataxin-3. The precise mechanism of the MJD/SCA3 pathogenesis remains unclear. A growing body of evidence demonstrates that phosphorylation plays
Rui-Song, Tao, Er-Kang, Fei, Zheng, Ying, Hong-Feng, Wang, Guang-Hui, Wang   +4 more
openaire   +2 more sources

Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon

Neurobiology of Disease, 2013
Spinocerebellar ataxia type 3 is caused by a polyglutamine expansion in the ataxin-3 protein, resulting in gain of toxic function of the mutant protein. The expanded glutamine stretch in the protein is the result of a CAG triplet repeat expansion in the ...
Melvin M. Evers, Hoang-Dai Tran, Ioannis Zalachoras, Barry A. Pepers, Onno C. Meijer, Johan T. den Dunnen, Gert-Jan B. van Ommen, Annemieke Aartsma-Rus, Willeke M.C. van Roon-Mom   +8 more
doaj   +1 more source

A Mutant ataxin-3 fragment results from processing at a site N-terminal to amino acid 190 in brain of Machado–Joseph disease-like transgenic mice

Neurobiology of Disease, 2007
Machado–Joseph disease also called spinocerebellar ataxia type 3 (MJD/SCA3) is a hereditary and neurodegenerative movement disorder caused by ataxin-3 with a polyglutamine expansion (mutant ataxin-3). Neuronal loss in MJD/SCA3 is associated with a mutant
Veronica F. Colomer Gould, Daniel Goti, Donna Pearce, Guillermo A. Gonzalez, Hong Gao, Mario Bermudez de Leon, Nancy A. Jenkins, Neal G. Copeland, Christopher A. Ross, Dale R. Brown   +9 more
doaj   +1 more source

Reply to: “Comment on: Polyglutamine‐Expanded Ataxin‐3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood”

Movement Disorders, 2022
We thank Al-Shaikh et al for their interest in our article on measurement of polyglutamine (polyQ)-expanded ataxin-3 in plasma and cerebrospinal fluid (CSF) as target engagement marker in spinocerebellar ataxia type 3 (SCA3) using the single molecule ...
Jeannette Hübener-Schmid, K. Kuhlbrodt, Julien Peladan, O. Riess   +3 more
semanticscholar   +1 more source