Sacs R272C missense homozygous mice develop an ataxia phenotype

Sacs R272C missense homozygous mice develop an ataxia phenotype

Abstract Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS [MIM 270550]) is an early-onset neurodegenerative disorder caused by mutations in the SACS gene. Over 200 SACS mutations have been identified. Most mutations lead to a complete loss of a sacsin, a large 520 kD protein, althou...

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Bibliographic Details
Main Authors: Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, Rébecca Gaudet, Karine Choquet, R. Anne McKinney, Alanna J. Watt, Bernard Brais
Format: Article
Language:English
Published: BMC 2019-03-01
Series:Molecular Brain
Subjects:
ARSACS, Purkinje cell, cerebellum
Sacsin
SACS
Ataxia
Mouse model
Online Access:http://link.springer.com/article/10.1186/s13041-019-0438-3

Internet

http://link.springer.com/article/10.1186/s13041-019-0438-3

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