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Pigment Cell Melanoma Res. 2013 Mar;26(2):176-92. doi: 10.1111/pcmr.12051. Epub 2012 Dec 31.

Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.

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1
Department of Dermatology, Beijing Tongren Affiliated Hospital of Capital Medical University, Beijing, China.

Abstract

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive and genetically heterogeneous disorder characterized by oculocutaneous albinism, bleeding tendency, and ceroid deposition, which likely leads to deleterious lesions in lungs, heart, and other organs. Currently, nine genes have been identified as causative for HPS in humans. Their pathological effects are attributable to the disrupted biogenesis of lysosome-related organelles (LROs) existing in multiple cell types or tissues, causing the pigmentory and non-pigmentory defects. This review focuses on the functional aspects of HPS genes in regulating LRO biogenesis and signal transduction. The understanding of these mechanisms expands our knowledge about the involvement of lysosomal trafficking in the targeting of cargoes for constitutive transport, degradation, and secretion. This opens an avenue to the pathogenesis of lysosomal trafficking disorders at the cellular and developmental levels.

PMID:
23171219
DOI:
10.1111/pcmr.12051
[Indexed for MEDLINE]
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