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Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a neurological disease with mutations in SACS, encoding sacsin, a multidomain protein of 4,579 amino acids. The large size of SACS and its translated protein has hindered biochemical analysis of ARSACS, and how mutant sacsins lead...

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Detalles Bibliográficos
Autores principales:	Romano, Alessandro, Tessa, Alessandra, Barca, Amilcare, Fattori, Fabiana, Fulvia de Leva, Maria, Terracciano, Alessandra, Storelli, Carlo, Santorelli, Filippo Maria, Verri, Tiziano
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2013
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3629688/ https://www.ncbi.nlm.nih.gov/pubmed/23280630 http://dx.doi.org/10.1002/humu.22269

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