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Alessandro Romano, Alessandra Tessa, Amilcare Barca, Fabiana Fattori, Maria Fulvia de Leva, Alessandra Terracciano, Carlo Storelli, Filippo Maria Santorelli and Tiziano Verri Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture Human Mutation 34

Version of Record online: 18 FEB 2013 | DOI: 10.1002/humu.22269

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ARSACS is a neurological disease with mutations in SACS, encoding sacsin. Three repeated regions (Sacsin Internal RePeaTs) larger than the previously described Sacsin Repeating Region supra-domains were found in sacsin, organized in sub-repeats (sr1, sr2, sr3, srX). Comparative analysis of vertebrate sacsins in combination with fine positional mapping of a set of human mutations reveals that the sub-repeats are functional. The position of the pathogenic mutations in the sub-repeats appears to be related to the severity of the clinical phenotype.

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