Results 61 to 70 of about 9,929 (238)

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

Characterization of the conformational fluctuations in the Josephin domain of ataxin-3. [PDF]

Biophys J, 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 D, De Simone A, Cavalli A, Faggiano S, Vendruscolo M, Pastore A.   +5 more
europepmc   +8 more sources

Suppression of polyglutamine toxicity by a Drosophila homolog of myeloid leukemia factor 1 [PDF]

, 2002
The toxicity of an abnormally long polyglutamine [poly(Q)] tract within specific proteins is the molecular lesion shared by Huntington's disease (HD) and several other hereditary neurodegenerative disorders.
Benzer, Seymour, Kazemi-Esfarjani, Parsa
core   +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

Lithium chloride therapy fails to improve motor function in a transgenic mouse model of Machado-Joseph disease [PDF]

, 2014
The accumulation of misfolded proteins in neurons, leading to the formation of cytoplasmic and nuclear aggregates, is a common theme in age-related neurodegenerative diseases, possibly due to disturbances of the proteostasis and insufficient activity of ...
A Melendez, AH Chou, AJ Gelenberg, AJ Meijer, AM Cuervo, AM Cuervo, Anabela Silva-Fernandes, Andreia Neves-Carvalho, Andreia Teixeira-Castro, B Levine, B Ravikumar, B Ravikumar, C Bettencourt, C Ishida, C Miodownik, CA Matos, Carina Soares-Cunha, CJ Phiel, CK Cemal, D Goti, D Lin, DC Rogers, DC Rubinsztein, DC Rubinsztein, DJ Klionsky, E Itakura, FK Goodwin, FM Menzies, FM Menzies, G Tremont, GN Bijur, H Wei, HL Feng, HL Paulson, I Schmitt, J Peiffer, JA Quiroz, JA Rafael, JAM Saute, JL Webb, JP Jacobsen, K Watase, L Mangiarini, M Niethammer, M Ren, M Xu, MJ Berridge, MP Mattson, N Mizushima, N Ozaki, N Xiong, NI Wood, O Riess, O Wirths, P Coutinho, Patrícia Maciel, Pedro Oliveira, PO Fernagut, PR Sanberg, PS Klein, R Hashimoto, R Lalonde, R Lalonde, R Lalonde, R Nandagopal, RA Nixon, RJ Carter, RW Chen, S Grignon, S Sarkar, S Sarkar, S Sarkar, S Savvopoulos, Sara Duarte-Silva, SJ Lee, SP Brooks, T Baptista, T Fukumoto, T Hiroi, TT Rohn, V Stambolic, W Nicklas, WH Yu, WJ Ryves, XM Gao, Z Berger, ZH Cheung   +86 more
core   +1 more source

Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado–Joseph disease (MJD) gene [PDF]

, 2004
Machado–Joseph disease (MJD) is a neurodegenerative disorder, caused by the expansion of the (CAG)n tract in the MJD gene. This encodes the protein ataxin-3, of unknown function.
Costa, Maria do Carmo, Maciel, P., Miranda, Carlos J., Santos, Manuela M., Sequeiros, Jorge, Silva, Joana Gomes da   +5 more
core   +1 more source

Ataxin-3 and its E3 partners: Implications for Machado-Joseph disease

Frontiers in Neurology, 2013
Machado-Joseph disease (MJD) is the most common dominant inherited ataxia worldwide, caused by an unstable CAG trinucleotide expansion mutation within the SCA3 gene resulting in an expanded polyglutamine tract within the ataxin-3 protein.
Thomas M Durcan, Edward A Fon
doaj   +1 more source

Transcription factor EB-mediated mesenchymal stem cell therapy induces autophagy and alleviates spinocerebellar ataxia type 3 defects in neuronal cells model

Cell Death and Disease, 2022
Defects in ataxin-3 proteins and CAG repeat expansions in its coding gene ATXN3 cause Spinocerebellar Ataxia Type 3 (SCA3) or Machado-Joseph disease (MJD) polyglutamine neurodegenerative disease. The mutant proteins aggregate as inclusion bodies in cells
Xiaobo Han, Jean de Dieu Habimana, Amy L. Li, Rongqi Huang, Omar Mukama, Weiyue Deng, Ling Wang, Yuying Zhang, Wei Wang, Sihao Deng, Kexin Peng, Bing Ni, Shusheng Zhang, Jufang Huang, Xiao-xin Yan, Zhiyuan Li   +15 more
doaj   +1 more source

Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease [PDF]

, 2015
Polyglutamine diseases are a class of dominantly inherited neurodegenerative disorders for which there is no effective treatment. Here we provide evidence that activation of serotonergic signalling is beneficial in animal models of Machado-Joseph disease.
Adriana Miranda, Ana Jalles, Anabela Silva-Fernandes, Andreia Neves-Carvalho, Andreia Teixeira-Castro, Blakely, Blier, Carlos Bessa, Clarke, El Mansari, João Bessa, Koch, Liliana da Silva Santos, Mário F. Neto, Patrícia Maciel, Pedro Oliveira, Perenyi, Ranganathan, Renée M. Brielmann, Richard B. Silverman, Richard I. Morimoto, Sara Duarte-Silva, Sofia Esteves, Soosung Kang, Stéphanie Oliveira, Tatum, Teresa Summavielle   +26 more
core   +1 more source