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Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.
Neurol. Genet. 1:e9 (2015)
Rab proteins are small molecular weight guanosine triphosphatases involved in the regulation of vesicular trafficking.(1) Three of 4 X-linked RAB genes are specific to the brain, including RAB39B. Recently, Wilson et al.(2) reported that mutations in RAB39B cause X-linked intellectual disability (ID) and pathologically confirmed Parkinson disease (PD). They identified a ∼45-kb deletion resulting in the complete loss of RAB39B in an Australian kindred and a missense mutation in a large Wisconsin kindred. Here, we report an additional affected man with typical PD and mild mental retardation harboring a new truncating mutation in RAB39B.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
e-ISSN 2376-7839
Zeitschrift Neurology Genetics
Quellenangaben Band: 1, Heft: 1, Seiten: , Artikelnummer: e9 Supplement: ,
Verlagsort Minneapolis, Minn.
Begutachtungsstatus peer-reviewed