학술논문
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Document Type
Article
Author
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
Source
Subject
*SJOGREN'S syndrome
*KERATOCONJUNCTIVITIS sicca
*HEAT shock proteins
*PROTEINS
*CEREBELLAR ataxia
*GENETIC mutation
*MUSCLE diseases
*CATARACT
*PROTEOMICS
*GENETICS
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Language
ISSN
1061-4036
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. [ABSTRACT FROM AUTHOR]