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- Title
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
- Authors
Senderek, Jan; Krieger, Michael; Stendel, Claudia; Bergmann, Carsten; Moser, Markus; Breitbach-Faller, Nico; Rudnik-Schöneborn, Sabine; Blaschek, Astrid; Wolf, Nicole I.; Harting, Inga; North, Kathryn; Smith, Janine; Muntoni, Francesco; Brockington, Martin; Quijano-Roy, Susana; Renault, Francis; Herrmann, Ralf; Hendershot, Linda M.; Schröder, J. Michael; Lochmüller, Hanns
- 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.
- Subjects
CEREBELLAR ataxia; CEREBELLUM diseases; CATARACT; MUSCLE diseases; MYALGIA; GENETIC mutation; ENDOPLASMIC reticulum; PROTEINS; PROTEOMICS; GENETICS
- Publication
Nature Genetics, 2005, Vol 37, Issue 12, p1312
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng1678