Ontology highlight
ABSTRACT:
SUBMITTER: Chio A
PROVIDER: S-EPMC2771748 | biostudies-literature | 2009 Aug
REPOSITORIES: biostudies-literature
Chiò Adriano A Restagno Gabriella G Brunetti Maura M Ossola Irene I Calvo Andrea A Mora Gabriele G Sabatelli Mario M Monsurrò Maria Rosaria MR Battistini Stefania S Mandrioli Jessica J Salvi Fabrizio F Spataro Rossella R Schymick Jennifer J Traynor Bryan J BJ La Bella Vincenzo V
Neurobiology of aging 20090517 8
Recently, fused in sarcoma/translated in liposarcoma (FUS/TLS) gene, located on chromosome 16p11.2, has been identified as a disease gene in familial amyotrophic lateral sclerosis (FALS). We have analyzed FUS/TLS in a cohort of 52 index cases from seven Italian regions with non-SOD1 and non-TARDBP FALS. We identified a heterozygous c.G1542C missense mutation in a family of northern Italian origin, and a heterozygous c.C1574T missense mutation in a family of Sicilian origin. Both variants are loc ...[more]