Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy

Senderek, J; Krieger, M; Stendel, C; Bergmann, C; Moser, M; Breitbach-Faller, N; Rudnik-Schoneborn, S; Blaschek, A; Wolf, NI; Harting, I; North, K; Smith, J; Muntoni, F; Brockington, M; Quijano-Roy, S; Renault, F; Herrmann, R; Hendershot, LM; Schroder, JM; Lochmuller, H; Topaloglu, H; Voit, T; Weis, J; Ebinger, F; Zerres, K

doi:10.1038/ng1678

Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy

Senderek J., Krieger M., Stendel C., Bergmann C., Moser M., Breitbach-Faller N., ...Daha Fazla

NATURE GENETICS, cilt.37, sa.12, ss.1312-1314, 2005 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 37 Sayı: 12
Basım Tarihi: 2005
Doi Numarası: 10.1038/ng1678
Dergi Adı: NATURE GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1312-1314
Hacettepe Üniversitesi Adresli: Hayır

Özet

SIL1 ( also called BAP) acts as a nucleotide exchange factor for the Hsp70 chaperone BiP ( also called GRP78), which is a key regulator of the main functions of the endoplasmic reticulum. We found nine distinct mutations that would disrupt the SIL1 protein in individuals with Marinesco-Sjogren syndrome, an autosomal recessive cerebellar ataxia complicated by cataracts, developmental delay and myopathy. Identification of SIL1 mutations implicates Marinesco-Sjogren syndrome as a disease of endoplasmic reticulum dysfunction and suggests a role for this organelle in multisystem disorders.