Results 51 to 60 of about 13,262,735 (197)

Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood [PDF]

, 2021
BACKGROUND: Spinocerebellar ataxia type 3 is a rare neurodegenerative disease caused by a CAG repeat expansion in the ataxin-3 gene. Although no curative therapy is yet available, preclinical gene-silencing approaches to reduce polyglutamine (polyQ ...
Klockgether, T., Warrenburg, B.P.C. van de, de Vries, J, Jacobi, H., Riess, O., Infante, J, Pereira de Almeida, L, Raposo, M, Steiner, KM, Gaalen, J. van, Kuhlbrodt, K., Schöls, L, Kuhlbrodt, K, Vries, Jeroen de, Faber, J, Klockgether, T, Lima, M., Garcia-Moreno, H, Giunti, P, Steiner, K.M., Verbeek, MM, Peladan, J., Raposo, M., Jacobi, H, Santana, M.M., Infante, J., Schöls, L., van de Warrenburg, B, Hübener-Schmid, J., Hengel, H, Santana, MM, Peladan, J, Faber, J., Synofzik, M., van Gaalen, J, Reetz, K, Synofzik, M, Giunti, P., Reetz, K., Garcia-Moreno, H., Lima, M, Hübener-Schmid, J, Riess, O, Almeida, L., Hengel, H., Verbeek, M.M.   +45 more
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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

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-1 interactome

, 2018
Alphabetical listing of the ataxin-1[85Q] interactome in Neuro-2a cells identified by BioID and GFP-trap Pulldown ...
Marie A. Bogoyevitch (5977694), Sunyuan Zhang (5754746), Nicholas A. Williamson (255006)   +2 more
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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
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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
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Autophagy Function and Benefits of Autophagy Induction in Models of Spinocerebellar Ataxia Type 3

Cells, 2023
Background: Spinocerebellar ataxia 3 (SCA3, also known as Machado Joseph disease) is a fatal neurodegenerative disease caused by the expansion of the trinucleotide repeat region within the ATXN3/MJD gene. The presence of this genetic expansion results in
Maxinne Watchon, Luan Luu, Stuart K. Plenderleith, Kristy C. Yuan, Angela S. Laird   +4 more
doaj   +1 more source

RNA toxicity is a component of ataxin-3 degeneration in Drosophila [PDF]

Nature, 2008
Polyglutamine (polyQ) diseases are a class of dominantly inherited neurodegenerative disorders caused by the expansion of a CAG repeat encoding glutamine within the coding region of the respective genes. The molecular and cellular pathways underlying polyQ-induced neurodegeneration are the focus of much research, and it is widely considered that toxic ...
Ling-Bo, Li, Zhenming, Yu, Xiuyin, Teng, Nancy M, Bonini   +3 more
openaire   +2 more sources

Investigation of the multi-domain aggregation mechanism of ataxin-3

, 2017
Spinocerebellar Ataxia Type 3 (SCA3) is one of nine polyglutamine (polyQ) diseases which are all characterized by progressive neuronal dysfunction. A hallmark of these diseases is the presence of neuronal inclusions which contain aggregated polyQ protein,
Saunders, Helen Michelle (3634561)
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