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Lesage, S.* ; Bras, J.* ; Cormier-Dequaire, F.* ; Condroyer, C.* ; Nicolas, A.* ; Darwent, L.* ; Guerreiro, R.* ; Majounie, E.* ; Federoff, M.* ; Heutink, P.* ; Wood, N.W.* ; Gasser, T.* ; Hardy, J.* ; Tison, F.* ; Singleton, A.* ; Brice, A.* ; International Parkinson's Disease Genomics Consortium (IPDGC) (Illig, T. ; Lichtner, P.)

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.

Neurol. Genet. 1:e9 (2015)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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
Korrespondenzautor
ISSN (print) / ISBN 2376-7839
e-ISSN 2376-7839
Zeitschrift Neurology Genetics
Quellenangaben Band: 1, Heft: 1, Seiten: , Artikelnummer: e9 Supplement: ,
Verlag American Academy of Neurology
Verlagsort Minneapolis, Minn.
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Epidemiology II (EPI2)
Institute of Human Genetics (IHG)