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Nat Genet. 2005 Dec;37(12):1312-4. Epub 2005 Nov 13.

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

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  • 1Department of Human Genetics, Aachen University of Technology, Aachen, Germany. jsenderek@ukaachen.de

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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PMID:
16282977
DOI:
10.1038/ng1678
[PubMed - indexed for MEDLINE]
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