| First Author | Anttonen AK | Year | 2005 |
| Journal | Nat Genet | Volume | 37 |
| Issue | 12 | Pages | 1309-11 |
| PubMed ID | 16282978 | Mgi Jnum | J:105240 |
| Mgi Id | MGI:3614373 | Doi | 10.1038/ng1677 |
| Citation | Anttonen AK, et al. (2005) The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet 37(12):1309-11 |
| abstractText | We identified the gene underlying Marinesco-Sjogren 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-Sjogren syndrome. |
