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Article

The nucleotide exchange factor activity of Grp170 may explain the non-lethal phenotype of loss of Sil1 function in man and mouse.

FEBS letters - 2 Oct 2006

Weitzmann Andreas, Volkmer Jörg, Zimmermann Richard

Abstract excerpt

Recent genetic work characterized homozygous mutations in the SIL1 gene as cause for the neurodegeneration that is associated with Marinesco-Sjögren syndrome in man and the woozy mouse mutant. All reported mutations were expected to result in loss of Sil1 function. Sil1 has previously been shown to act as nucleotide exchange factor for the molecular chaperone immunoglobulin heavy chain binding protein (BiP) in...

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Share to Endoplasmic Reticulum Chaperone BiP
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16962589
DOI: 10.1016/j.febslet.2006.08.055

Genes

SIL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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The nucleotide exchange factor activity of Grp170 may explain the non-lethal phenotype of loss of Sil1 function in man and mouse.PMID 16962589Read ↗

Role of the HSP70 Co-Chaperone SIL1 in Health and Disease.Semantic proximity Read ↗

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.Semantic proximity Read ↗

Nucleotide binding by Lhs1p is essential for its nucleotide exchange activity and for function in vivo.Semantic proximity Read ↗

C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.Semantic proximity Read ↗

Loss of Grp170 results in catastrophic disruption of endoplasmic reticulum functionsSemantic proximity Read ↗

Loss of Grp170 results in catastrophic disruption of endoplasmic reticulum functionSemantic proximity Read ↗

Diminished Ost3-dependent N-glycosylation of the BiP nucleotide exchange factor Sil1 is an adaptive response to reductive ER stress.Semantic proximity Read ↗

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.Semantic proximity Read ↗

ER chaperones in mammalian development and human diseasesSemantic proximity Read ↗

The Lhs1/GRP170 chaperones facilitate the endoplasmic reticulum-associated degradation of the epithelial sodium channel.Semantic proximity Read ↗

LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum.Semantic proximity Read ↗

Sil1, a nucleotide exchange factor for BiP, is not required for antibody assembly or secretion.Semantic proximity Read ↗

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