2. Academic Validation
  3. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

  • Nat Genet. 2005 Dec;37(12):1312-4. doi: 10.1038/ng1678.
Jan Senderek 1,  Michael Krieger,  Claudia Stendel,  Carsten Bergmann,  Markus Moser,  Nico Breitbach-Faller,  Sabine Rudnik-Schöneborn,  Astrid Blaschek,  Nicole I Wolf,  Inga Harting,  Kathryn North,  Janine Smith,  Francesco Muntoni,  Martin Brockington,  Susana Quijano-Roy,  Francis Renault,  Ralf Herrmann,  Linda M Hendershot,  J Michael Schröder,  Hanns Lochmüller,  Haluk Topaloglu,  Thomas Voit,  Joachim Weis,  Friedrich Ebinger,  Klaus Zerres
Affiliations

Affiliation

  • 1 Department of Human Genetics, Aachen University of Technology, Aachen, Germany. [email protected]
PMID: 16282977 DOI: 10.1038/ng1678
Abstract

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-Sjögren syndrome, an autosomal recessive cerebellar ataxia complicated by cataracts, developmental delay and myopathy. Identification of SIL1 mutations implicates Marinesco-Sjögren syndrome as a disease of endoplasmic reticulum dysfunction and suggests a role for this organelle in multisystem disorders.

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