ArticlePloS one2017
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 12 citations in OpenAlex.
- Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis.International journal of molecular sciences · 2024Review
- Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.European respiratory review : an official journal of the European Respiratory Society · 2021Article
- Hermansky-Pudlak syndrome: Mutation update.Human mutation · 2020Article
- Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.American journal of medical genetics. Part A · 2018Article
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
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 lysosomal-related endosomal compartments. BLOC-2, for example, consists of the proteins HPS3, HPS5, and HPS6. Here we present an HPS patient with defective BLOC-2 due to a novel intronic mutation in HPS5 that activates a cryptic acceptor splice site. This mutation leads to the insertion of nine nucleotides in-frame and results in a reduced amount of HPS5 at the transcript and protein level. In studies using skin fibroblasts derived from the proband and two other individuals with HPS-5, we found a perinuclear distribution of acidified organelles in patient cells compared to controls. Our results suggest the role of HPS5 in the endo-lysosomal dynamics of skin fibroblasts.
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