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A divalent interaction between HPS1 and HPS4 is required for the formation of the Biogenesis of Lysosome-related Organelle Complex -3 (BLOC-3)

Hermansky-Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders characterized by oculocutaneous albinism, a bleeding tendency, and sporadic pulmonary fibrosis, granulomatous colitis or infections. Nine HPS-causing genes have been identified in humans. HPS-1 is the most severe subtyp...

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Detalhes bibliográficos
Main Authors: Carmona-Rivera, Carmelo, Simeonov, Dimitre R., Cardillo, Nicholas D., Gahl, William A., Cadilla, Carmen L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3556189/
https://ncbi.nlm.nih.gov/pubmed/23103514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbamcr.2012.10.019
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