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These results suggested the important roles of endoplasmic reticulum-related chaperons, Bip (zeige HSPA5 ELISA Kits) 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.
In a child with Marinesco-Sjogren syndrome it was found that a mutation in SIL1 affected the 5' UTR (zeige UTS2R ELISA Kits), 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 (zeige USP22 ELISA Kits) mutation in SIL1; our findings imply the pathogenetic association between DWS and MSS
Two NEFs, Grp170 (zeige HYOU1 ELISA Kits) and Sil1, trigger toxin release from BiP (zeige GDF10 ELISA Kits) to enable successful retrotranslocation and clarify the fate of the toxin after it disengages from BiP (zeige GDF10 ELISA Kits).
This study demonistrated that SIL1 mutation in patient with ataxia telangiectasia
The mutations prevent SIL1 from interacting with and regulating HSPA5 (zeige HSPA5 ELISA Kits), 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 (zeige CARD8 ELISA Kits) features of Marinesco-Sjogren syndrome, but did not exhibit any mutation in the exons and flanking introns of the SIL1 gene.
Some reported cases of Marinesco-Sjogren syndrome without base alterations in the SIL1 gene are caused by deletions rather than locus heterogeneity.
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