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, ss.1312-1314, 2005 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 37 Konu: 12
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1038/ng1678
  • Dergi Adı: NATURE GENETICS
  • Sayfa Sayıları: ss.1312-1314

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.