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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Detalles Bibliográficos
Autores principales: Rachel, Rivka A., Nagashima, Kunio, O'Sullivan, T. Norene, Frost, Laura S., Stefano, Frank P., Marigo, Valeria, Boesze-Battaglia, Kathleen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439427/
https://www.ncbi.nlm.nih.gov/pubmed/22984402
http://dx.doi.org/10.1371/journal.pone.0042446

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439427/
https://www.ncbi.nlm.nih.gov/pubmed/22984402
http://dx.doi.org/10.1371/journal.pone.0042446

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