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. 2005 Dec;37(12):1312-4.
doi: 10.1038/ng1678. Epub 2005 Nov 13.

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

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

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

Jan Senderek et al. Nat Genet. 2005 Dec.

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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Comment in

  • SILencing misbehaving proteins.
    Zoghbi HY. Zoghbi HY. Nat Genet. 2005 Dec;37(12):1302-3. doi: 10.1038/ng1205-1302. Nat Genet. 2005. PMID: 16314860 No abstract available.

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