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Senderek J Krieger M Stendel C Bergmann C Moser M Breitbach-Faller N Rudnik-Schöneborn S Blaschek A Wolf NI Harting I North K Smith J Muntoni F Brockington M Quijano-Roy S Renault F Herrmann R Hendershot LM Schröder JM Lochmüller H Topaloglu H Voit T Weis J Ebinger F Zerres K 《Nature genetics》2005,37(12):1312-1314
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-Sj?gren syndrome, an autosomal recessive cerebellar ataxia complicated by cataracts, developmental delay and myopathy. Identification of SIL1 mutations implicates Marinesco-Sj?gren syndrome as a disease of endoplasmic reticulum dysfunction and suggests a role for this organelle in multisystem disorders. 相似文献