作者
Jan Senderek,M. Krieger,Claudia Stendel,Carsten Bergmann,Markus Moser,N. Breitbach-Faller,Sabine Rudnik-Schöneborn,A. Blaschek,Nicole I. Wolf,Inga Harting,Kathryn N. North,Janine Smith,Francesco Muntoni,Martin Brockington,Susana Quijano-Roy,F. Renault,R. Herrmann,Linda M. Hendershot,J. M. Schröder,Hanns Lochmüller,Haluk Topaloglu,Thomas Voit,Joachim Weis,Friedrich Ebinger,Klaus Zerres
摘要
SIL1 (also called BAP) acts as a nucleotide exchange factor for the Hsp70 chaperone BiP (also called GRP78), which is a key regulator of the main functions of the endoplasmic reticulum. We found nine distinct mutations that would disrupt the SIL1 protein in individuals with Marinesco-Sjogren syndrome, an autosomal recessive cerebellar ataxia complicated by cataracts, developmental delay and myopathy. Identification of SIL1 mutations implicates Marinesco-Sjogren syndrome as a disease of endoplasmic reticulum dysfunction and suggests a role for this organelle in multisystem disorders.