Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy
Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy
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DOI：
10.1038/ng1678
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发表时间：
2005-12-01
期刊：
影响因子：
30.8
通讯作者：
Zerres, K
中科院分区：
文献类型：
--
作者：
Senderek, J;Krieger, M;Zerres, K
SIL 1（也称为BAP）作为Hsp 70伴侣BiP（也称为GRP 78）的核苷酸交换因子，BiP是内质网主要功能的关键调节因子。我们发现了9种不同的突变，这些突变会破坏Marinesco-Sjogren综合征患者的SIL 1蛋白，Marinesco-Sjogren综合征是一种常染色体隐性遗传的小脑共济失调，并发白内障，发育迟缓和肌病。SIL 1突变的鉴定暗示Marinesco-Sjogren综合征是一种内质网功能障碍疾病，并提示该细胞器在多系统疾病中的作用。
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-Sjogren syndrome, an autosomal recessive cerebellar ataxia complicated by cataracts, developmental delay and myopathy. Identification of SIL1 mutations implicates Marinesco-Sjogren syndrome as a disease of endoplasmic reticulum dysfunction and suggests a role for this organelle in multisystem disorders.