Sacs R272C missense homozygous mice develop an ataxia phenotype

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, although some m...

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Detalles Bibliográficos
Autores principales: Larivière, Roxanne, Sgarioto, Nicolas, Márquez, Brenda Toscano, Gaudet, Rébecca, Choquet, Karine, McKinney, R. Anne, Watt, Alanna J., Brais, Bernard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416858/
https://www.ncbi.nlm.nih.gov/pubmed/30866998
http://dx.doi.org/10.1186/s13041-019-0438-3

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