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

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

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.

Affiliation

Anttonen AK; Folkhälsan Institute of Genetics and Neuroscience Center, University of Helsinki, PO Box 63, FI-00014 Helsinki, Finland.

Nat Genet ; 37(12): 1309-11, 2005 Dec.

Article in En | MEDLINE | ID: mdl-16282978

Subject(s)

Guanine Nucleotide Exchange Factors/genetics; Heat-Shock Proteins/metabolism; Molecular Chaperones/metabolism; Proteins/metabolism; Spinocerebellar Degenerations/genetics; Spinocerebellar Degenerations/metabolism; Endoplasmic Reticulum Chaperone BiP; Finland; Gene Deletion; Guanine Nucleotide Exchange Factors/analysis; Guanine Nucleotide Exchange Factors/metabolism; Humans; Muscle, Skeletal/chemistry; Mutation; Protein Folding

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Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Spinocerebellar Degenerations / Molecular Chaperones / Guanine Nucleotide Exchange Factors / Heat-Shock Proteins Type of study: Prognostic_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2005 Type: Article Affiliation country: Finland

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