Article
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Nature genetics - 1 Dec 2005
Anttonen Anna-Kaisa, Mahjneh Ibrahim, Hämäläinen Riikka H, Lagier-Tourenne Clotilde, Kopra Outi, Waris Laura, Anttonen Mikko, Joensuu Tarja, Kalimo Hannu, Paetau Anders, Tranebjaerg Lisbeth, Chaigne Denys, Koenig Michel, Eeg-Olofsson Orvar, Udd Bjarne, Somer Mirja, Somer Hannu, Lehesjoki Anna-Elina
Abstract excerpt
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...
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