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The carry a mutation in the Sil1 gene mice showed adult-onset ataxia with progressive neurodegeneration of the cerebellum. Homozygous wz mice might be useful as an animal model of diseases showing adult-onset ataxia because of cerebellar neurodegeneration.
These results suggested the important roles of endoplasmic reticulum-related chaperons, Bip (show HSPA5 Proteins) and SIL1, in Alzheimer's disease-like tau hyperphosphorylation.
These results reveal a novel role for the nucleotide exchange factor SIL1 in pancreatic beta cell function under physiological and disease conditions such as diabetes and the metabolic syndrome.
SIL1-depleted HEK293 cells are an appropriate model to identify proteins modulated by SIL1 expression level.
In a child with Marinesco-Sjogren syndrome it was found that a mutation in SIL1 affected the 5' UTR, translation initiation site and the endoplasmic reticulum-targeting signal sequence.
this case study is the first report on Chinese Marinesco-Sjogren syndrome (MSS) patients, MSS complicated by Dandy-Walker syndrome (DWS), and a nonstop (show USP22 Proteins) mutation in SIL1; our findings imply the pathogenetic association between DWS and MSS
Two NEFs, Grp170 (show HYOU1 Proteins) and Sil1, trigger toxin release from BiP (show GDF10 Proteins) to enable successful retrotranslocation and clarify the fate of the toxin after it disengages from BiP (show GDF10 Proteins).
This study demonistrated that SIL1 mutation in patient with ataxia telangiectasia
The mutations prevent SIL1 from interacting with and regulating HSPA5 (show HSPA5 Proteins), leading to abnormal neuronal morphology and migration.
The study confirms the previous findings of mutations in SIL1 being the major cause of Marinesco-Sjogren syndrome.
The clinical features and two novel SIL1 mutations of four Dutch patients with Marinesco-Sjogren syndrome are described
the very C-terminal residues of SIL1 play a role in its structural integrity rather than its localization.
The patients described here manifested the cardinal (show CARD8 Proteins) features of Marinesco-Sjogren syndrome, but did not exhibit any mutation in the exons and flanking introns of the SIL1 gene.
This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized.
nucleotide exchange factor SIL1
, BiP-associated protein
, SIL1 homolog, endoplasmic reticulum chaperone