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Article

C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.

The Journal of biological chemistry - 9 Mar 2012

Howes Jennifer, Shimizu Yuichiro, Feige Matthias J, Hendershot Linda M

Abstract excerpt

Marinesco-Sjögren syndrome (MSS) is an autosomal recessive, neurodegenerative, multisystem disorder characterized by severe phenotypes developing in infancy. Recently, mutations in the endoplasmic reticulum (ER)-associated co-chaperone SIL1/BAP were identified to be the major cause of MSS. SIL1 acts as a nucleotide exchange factor for BiP, the ER Hsp70 orthologue, which plays an essential role in the folding and...

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Share to Endoplasmic Reticulum
Share to Endoplasmic Reticulum Chaperone BiP

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Guanine Nucleotide Exchange Factors

Share to Heat-Shock Proteins

Share to Proteasome Endopeptidase Complex

Share to Protein Stability

Share to Proteolysis

Share to Spinocerebellar Degenerations

Source

Open in PubMed Open full text

Identifiers

PMID: 22219183
DOI: 10.1074/jbc.M111.333286
PMCID: PMC3318681

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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Click a neighbor to travelStep 1 · 12 closest

C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.PMID 22219183Read ↗

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

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

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

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.Semantic proximity Read ↗

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.Semantic proximity Read ↗

Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region.Semantic proximity Read ↗

Loss of function mutations in SIL1 cause Marinesco-Sjögren syndrome.Semantic proximity Read ↗

Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.Semantic proximity Read ↗

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

Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.Semantic proximity Read ↗

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

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

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