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

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

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 penultimate exon of the ATXN3 gene. Several ge...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2013-10-01
Series:Neurobiology of Disease
Subjects:
Spinocerebellar ataxia type 3
Polyglutamine disorder
Ataxin-3
Exon skipping
CAG repeat
Polyglutamine repeat
Online Access:http://www.sciencedirect.com/science/article/pii/S096999611300140X

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http://www.sciencedirect.com/science/article/pii/S096999611300140X

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