TY - JOUR
T1 - The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
AU - Anttonen, Anna-Kaisa
AU - Mahjneh, Ibrahim
AU - Hämäläinen, Riikka
AU - Lagier-Tourenne, Clotilde
AU - Kopra, Outi
AU - Waris, Laura
AU - Anttonen, Mikko
AU - Joensuu, Tarja
AU - Kalimo, Hannu Olavi
AU - Paetau, Anders
AU - Tranebjaerg, Lisbeth
AU - Chaigne, Denys
AU - Koenig, Michel
AU - Eeg-Olofsson, Orvar
AU - Udd, Bjarne
AU - Somer, Mirja
AU - Somer, Hannu
AU - Lehesjoki, Anna-Elina
PY - 2005
Y1 - 2005
N2 - 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.
AB - 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.
KW - 311 Basic medicine
KW - 118 Biological sciences
KW - 515 Psychology
U2 - 10.1038/ng1677
DO - 10.1038/ng1677
M3 - Article
SN - 1061-4036
VL - 37
SP - 1309
EP - 1311
JO - Nature Genetics
JF - Nature Genetics
ER -