doi: 10.1038/ng1677.
Epub 2005 Nov 13.
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
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- PMID: 16282978
- DOI: 10.1038/ng1677
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The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
Nat Genet.
2005 Dec.
Abstract
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.
Comment in
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SILencing misbehaving proteins.Nat Genet. 2005 Dec;37(12):1302-3. doi: 10.1038/ng1205-1302. Nat Genet. 2005. PMID: 16314860 No abstract available.
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