Article

Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome

2002-07-15

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 a...

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Literature Corpus work: d16374f3-467f-5905-bd56-badb767b4fbc
DOI: 10.1172/jci0215058

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