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Article

Assembly of the Biogenesis of Lysosome-related Organelles Complex-3 (BLOC-3) and Its Interaction with Rab9

5 Jan 2010

Abstract excerpt

The Hermansky-Pudlak syndrome (HPS) is a genetic hypopigmentation and bleeding disorder caused by defective biogenesis of lysosome-related organelles (LROs) such as melanosomes and platelet dense bodies. HPS arises from mutations in any of 8 genes in humans and 16 genes in mice. Two of these genes, HPS1 and HPS4, encode components of the biogenesis of lysosome-related organelles complex-3 (BLOC-3). Herein we show...

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PMID: 20048159
DOI: 10.1074/jbc.m109.069088

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Assembly of the Biogenesis of Lysosome-related Organelles Complex-3 (BLOC-3) and Its Interaction with Rab9PMID 20048159Read ↗

Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.Semantic proximity Read ↗

A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).Semantic proximity Read ↗

BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.Semantic proximity Read ↗

Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles.Semantic proximity Read ↗

The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).Semantic proximity Read ↗

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.Semantic proximity Read ↗

Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).Semantic proximity Read ↗

An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.Semantic proximity Read ↗

Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles.Semantic proximity Read ↗

Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.Semantic proximity Read ↗

The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).Semantic proximity Read ↗

Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.Semantic proximity Read ↗

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