Article
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Nature genetics - 1 Dec 2005
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, Topaloglu Haluk, Voit Thomas, Weis Joachim, Ebinger Friedrich, Zerres Klaus
Abstract excerpt
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....
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