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. 2005 Dec;37(12):1309-11.
doi: 10.1038/ng1677. Epub 2005 Nov 13.

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Anna-Kaisa Anttonen  1 , Ibrahim Mahjneh, Riikka H Hämäläinen, Clotilde Lagier-Tourenne, Outi Kopra, Laura Waris, Mikko Anttonen, Tarja Joensuu, Hannu Kalimo, Anders Paetau, Lisbeth Tranebjaerg, Denys Chaigne, Michel Koenig, Orvar Eeg-Olofsson, Bjarne Udd, Mirja Somer, Hannu Somer, Anna-Elina Lehesjoki
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The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Anna-Kaisa Anttonen et al. 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.

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Comment in

  • SILencing misbehaving proteins.
    Zoghbi HY. Zoghbi HY. 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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