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Anttonen AK Mahjneh I Hämäläinen RH Lagier-Tourenne C Kopra O Waris L Anttonen M Joensuu T Kalimo H Paetau A Tranebjaerg L Chaigne D Koenig M Eeg-Olofsson O Udd B Somer M Somer H Lehesjoki AE 《Nature genetics》2005,37(12):1309-1311
We identified the gene underlying Marinesco-Sj?gren 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-Sj?gren syndrome. 相似文献
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