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
Department of Human Genetics, Aachen University of Technology, Aachen, Germany.
Nat Genet. 2005 Dec;37(12):1312-4. doi: 10.1038/ng1678. Epub 2005 Nov 13.
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.
SIL1（也称为BAP）作为热休克蛋白70伴侣蛋白BiP（也称为GRP78）的核苷酸交换因子，而BiP是内质网主要功能的关键调节因子。我们在患有 Marinesco-Sjögren 综合征的个体中发现了九个不同的突变，这些突变会破坏SIL1蛋白，Marinesco-Sjögren综合征是一种常染色体隐性遗传性小脑共济失调，伴有白内障、发育迟缓及肌病。SIL1突变的鉴定表明Marinesco-Sjögren综合征是一种内质网功能障碍性疾病，并提示该细胞器在多系统疾病中发挥作用。
