Nature genetics, 2005-12, Vol.37 (12), p.1312-1314
- Weis, Joachim
- Voit, Thomas
- Ebinger, Friedrich
- Wolf, Nicole I
- Senderek, Jan
- Hendershot, Linda M
- Brockington, Martin
- Topaloglu, Haluk
- Rudnik-Schöneborn, Sabine
- Breitbach-Faller, Nico
- Renault, Francis
- Blaschek, Astrid
- Lochmüller, Hanns
- Zerres, Klaus
- Moser, Markus
- Smith, Janine
- Quijano-Roy, Susana
- Krieger, Michael
- North, Kathryn
- Bergmann, Carsten
- Herrmann, Ralf
- Schröder, J Michael
- Stendel, Claudia
- Harting, Inga
- Muntoni, Francesco
2005
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- Autor(en) / Beteiligte
- Weis, Joachim
- Voit, Thomas
- Ebinger, Friedrich
- Wolf, Nicole I
- Senderek, Jan
- Hendershot, Linda M
- Brockington, Martin
- Topaloglu, Haluk
- Rudnik-Schöneborn, Sabine
- Breitbach-Faller, Nico
- Renault, Francis
- Blaschek, Astrid
- Lochmüller, Hanns
- Zerres, Klaus
- Moser, Markus
- Smith, Janine
- Quijano-Roy, Susana
- Krieger, Michael
- North, Kathryn
- Bergmann, Carsten
- Herrmann, Ralf
- Schröder, J Michael
- Stendel, Claudia
- Harting, Inga
- Muntoni, Francesco
- Titel
- Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
- Ist Teil von
- Nature genetics, 2005-12, Vol.37 (12), p.1312-1314
- Ort / Verlag
- London: Nature Publishing Group
- Erscheinungsjahr
- 2005
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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-Sjögren syndrome, an autosomal recessive cerebellar ataxia complicated by cataracts, developmental delay and myopathy. Identification of SIL1 mutations implicates Marinesco-Sjögren syndrome as a disease of endoplasmic reticulum dysfunction and suggests a role for this organelle in multisystem disorders.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1061-4036eISSN: 1546-1718DOI: 10.1038/ng1678Titel-ID: cdi_proquest_miscellaneous_68839131
- Format
- –
- Schlagworte
- Adolescent, Adult, Amino acids, Ataxia, Biological and medical sciences, Cataract - genetics, Cataract - metabolism, Cataracts, Cerebellar Ataxia - genetics, Cerebellar Ataxia - metabolism, Child, Child, Preschool, Complications and side effects, Congenital diseases, Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases, Endoplasmic reticulum, Endoplasmic Reticulum - metabolism, Female, Fundamental and applied biological sciences. Psychology, Gene mutations, Genetic aspects, Genetics of eukaryotes. Biological and molecular evolution, Guanine Nucleotide Exchange Factors - chemistry, Guanine Nucleotide Exchange Factors - genetics, Guanine Nucleotide Exchange Factors - metabolism, Heat-Shock Proteins - metabolism, Humans, Identification and classification, Lens diseases, Male, Medical sciences, Mental retardation, Molecular Chaperones - metabolism, Muscular Diseases - genetics, Muscular Diseases - metabolism, Mutation, Neurology, Ophthalmology, Pediatrics, Physiological aspects, Proteins, Risk factors, Spinocerebellar Degenerations - genetics, Spinocerebellar Degenerations - metabolism, Syndrome