Article
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Human mutation - 1 Mar 2013
Romano Alessandro, Tessa Alessandra, Barca Amilcare, Fattori Fabiana, de Leva Maria Fulvia, Terracciano Alessandra, Storelli Carlo, Santorelli Filippo Maria, Verri Tiziano
Abstract excerpt
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 to disease remains largely unknown. Three repeated sequences, called sacsin repeating region (SRR) supradomains,...
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