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Article

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

PloS one - 1 Jan 2017

Stephen Joshi, Yokoyama Tadafumi, Tolman Nathanial J, O'Brien Kevin J, Nicoli Elena-Raluca, Brooks Brian P, Huryn Laryssa, Titus Steven A, Adams David R, Chen Dong, Gahl William A, Gochuico Bernadette R, Malicdan May Christine V

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, in some subtypes. Most HPS subtypes are associated with defects in Biogenesis of Lysosome-related Organelle Complexes (BLOCs), which are groups of proteins that function together in the formation and/or trafficking of...

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Identifiers

PMID: 28296950
DOI: 10.1371/journal.pone.0173682
PMCID: PMC5351877

Genes

HPS5
HPS3
HPS6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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