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

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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Bibliographic Details
Main Authors: Rivka A Rachel, Kunio Nagashima, T Norene O'Sullivan, Laura S Frost, Frank P Stefano, Valeria Marigo, Kathleen Boesze-Battaglia
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3439427?pdf=render

Internet

http://europepmc.org/articles/PMC3439427?pdf=render

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