The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
Copyright policy )The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
We identified the gene underlying Marinesco-Sjögren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified four disease-associated, predicted loss-of-function mutations in SIL1, which encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5. These data, together with the similar spatial and temporal patterns of tissue expression of Sil1 and Hspa5, suggest that disturbed SIL1-HSPA5 interaction and protein folding is the primary pathology in Marinesco-Sjögren syndrome.
- Inserm France
- University of Helsinki Finland
- French Institute of Health and Medical Research France
- Uppsala University Sweden
- Institute of Genetics and Molecular and Cellular Biology France
Protein Folding, Proteins, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Mutation, Guanine Nucleotide Exchange Factors, Humans, Muscle, Skeletal, Endoplasmic Reticulum Chaperone BiP, Finland, Gene Deletion, Heat-Shock Proteins, Molecular Chaperones, Spinocerebellar Degenerations
Protein Folding, Proteins, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Mutation, Guanine Nucleotide Exchange Factors, Humans, Muscle, Skeletal, Endoplasmic Reticulum Chaperone BiP, Finland, Gene Deletion, Heat-Shock Proteins, Molecular Chaperones, Spinocerebellar Degenerations
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).211 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 1% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 1% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 1%
Citations provided by BIP!Popularity provided by BIP!