Generation of an Atxn2-CAG100 knock-in mouse reveals N-acetylaspartate production deficit due to early Nat8l dysregulation

Generation of an Atxn2-CAG100 knock-in mouse reveals N-acetylaspartate production deficit due to early Nat8l dysregulation

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by CAG-expansion mutations in the ATXN2 gene, mainly affecting motor neurons in the spinal cord and Purkinje neurons in the cerebellum. While the large expansions were shown to cause SCA2, the intermediat...

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Bibliographic Details
Main Authors: Nesli-Ece Sen, Júlia Canet-Pons, Melanie V. Halbach, Aleksandar Arsovic, Ulrich Pilatus, Woon-Hyung Chae, Zeynep-Ece Kaya, Kay Seidel, Ewa Rollmann, Michel Mittelbronn, David Meierhofer, Chris I. De Zeeuw, Laurens W.J. Bosman, Suzana Gispert, Georg Auburger
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Neurobiology of Disease
Subjects:
N-acetylaspartate
Molecular biomarkers of disease
Polyglutamine expansion
Stress granules
Mitochondrial bioenergetics
RNA processing
Online Access:http://www.sciencedirect.com/science/article/pii/S096999611930227X

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http://www.sciencedirect.com/science/article/pii/S096999611930227X

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