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Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome

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 GTPa...

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Udgivet i:J Clin Invest
Principais autores: 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.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2002
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Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC151050/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12122117/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI15058
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