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

Rachel, Rivka A; Nagashima, Kunio; O'Sullivan, T Norene; Frost, Laura S; Stefano, Frank P; Marigo, Valeria; Boesze-Battaglia, Kathleen

Rachel, Rivka A; Nagashima, Kunio; O'Sullivan, T Norene; Frost, Laura S; Stefano, Frank P; Marigo, Valeria; Boesze-Battaglia, Kathleen.

Affiliation

Rachel RA; Neurobiology, Neurodegeneration & Repair Laboratory, National Eye Institute, Bethesda, Maryland, United States of America.

PLoS One ; 7(9): e42446, 2012.

Article in En | MEDLINE | ID: mdl-22984402

Subject(s)

Albinism, Ocular/genetics; Carrier Proteins/metabolism; Genetic Loci/genetics; Organelles/metabolism; Adaptor Proteins, Vesicular Transport; Albinism, Ocular/pathology; Animals; Carrier Proteins/genetics; Cell Line; Choroid/metabolism; Choroid/pathology; Choroid/ultrastructure; Gene Dosage/genetics; Hermanski-Pudlak Syndrome/genetics; Humans; Intracellular Signaling Peptides and Proteins; Melanosomes/metabolism; Melanosomes/pathology; Melanosomes/ultrastructure; Mice; Mice, Transgenic; Models, Biological; Mutation/genetics; Organelle Size; Pigment Epithelium of Eye/metabolism; Pigment Epithelium of Eye/pathology; Pigment Epithelium of Eye/ultrastructure; Protein Transport; Vesicular Transport Proteins

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Organelles / Carrier Proteins / Albinism, Ocular / Genetic Loci Limits: Animals / Humans Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2012 Type: Article Affiliation country: United States

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