Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.

Humans with Hermansky-Pudlak Syndrome (HPS) or ocular albinism (OA1) display abnormal aspects of organelle biogenesis. The multigenic disorder HPS displays broad defects in biogenesis of lysosome-related organelles including melanosomes, platelet dense granules, and lysosomes. A phenotype of ocular...

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Autors principals:	Rivka A Rachel, Kunio Nagashima, T Norene O'Sullivan, Laura S Frost, Frank P Stefano, Valeria Marigo, Kathleen Boesze-Battaglia
Format:	Artigo
Idioma:	Inglês
Publicat:	Public Library of Science (PLoS) 2012-01-01
Col·lecció:	PLoS ONE
Accés en línia:	http://europepmc.org/articles/PMC3439427?pdf=render
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