Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis

BACKGROUND AND OBJECTIVES: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by variations in SACS gene encoding sacsin, a huge multimodular protein of unknown function. More than 200 SACS variations have been described worldwide to date. Because ARSACS presents phenotypic...

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Detalles Bibliográficos
Autores principales: Longo, Fabiana, De Ritis, Daniele, Miluzio, Annarita, Fraticelli, Davide, Baets, Jonathan, Scarlato, Marina, Santorelli, Filippo M., Biffo, Stefano, Maltecca, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8665432/
https://www.ncbi.nlm.nih.gov/pubmed/34649874
http://dx.doi.org/10.1212/WNL.0000000000012962

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8665432/
https://www.ncbi.nlm.nih.gov/pubmed/34649874
http://dx.doi.org/10.1212/WNL.0000000000012962

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