Article
Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome.
The Journal of clinical investigation - 1 Jul 2002
Barral Duarte C, Ramalho José S, Anders Ross, Hume Alistair N, Knapton Holly J, Tolmachova Tanya, Collinson Lucy M, Goulding David, Authi Kalwant S, Seabra Miguel C
Abstract excerpt
Griscelli syndrome (GS) patients and the corresponding mouse model ashen exhibit defects mainly in two types of lysosome-related organelles, melanosomes in melanocytes and lytic granules in CTLs. This disease is caused by loss-of-function mutations in RAB27A, which encodes 1 of the 60 known Rab GTPases, critical regulators of vesicular transport. Here we present evidence that Rab27a function can be compensated by...
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