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Respir Res 2021 Feb 8;22(1):49. Epub 2021 Feb 8.

Pulmonary, Critical Care and Sleep Medicine, Baylor College of Medicine, Houston, TX, USA.

Background: Mitochondrial dysfunction has emerged as an important player in the pathogenesis of idiopathic pulmonary fibrosis (IPF), a common cause of idiopathic interstitial lung disease in adults. Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder that causes a similar type of pulmonary fibrosis in younger adults, although the role of mitochondrial dysfunction in this condition is not understood.

Methods: We performed a detailed characterization of mitochondrial structure and function in lung tissues and alveolar epithelial cells deficient in the adaptor protein complex 3 beta 1 (Ap3b1) subunit, the gene responsible for causing subtype 2 of HPS (HPS-2). Read More

Pigment Cell Melanoma Res 2018 03 2;31(2):267-276. Epub 2017 Nov 2.

Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), a bleeding tendency, and ceroid deposition. Most of the causative genes for HPS encode subunits of the biogenesis of lysosome-related organelles complex (BLOC). In this study, we identified one patient each with HPS4, HPS6, and HPS9 by whole-exome sequencing. Read More

Platelets 2017 Mar 16;28(2):138-146. Epub 2016 Nov 16.

a Department of Biochemistry and Molecular Biology , Colorado State University , Fort Collins , Colorado , USA.

Platelet dense granules (DGs) are membrane bound compartments that store polyphosphate and small molecules such as ADP, ATP, Ca, and serotonin. The release of DG contents plays a central role in platelet aggregation to form a hemostatic plug. Accordingly, congenital deficiencies in the biogenesis of platelet DGs underlie human genetic disorders that cause storage pool disease and manifest with prolonged bleeding. Read More

Pigment Cell Melanoma Res 2016 Mar 18;29(2):231-5. Epub 2015 Dec 18.

Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

Hamostaseologie 2014 13;34(4):301-9. Epub 2014 Aug 13.

José Rivera, PhD., Centro Regional de Hemodonación, C/ Ronda de Garay s/n, Murcia, 30003, Spain, Tel. +34/968/34 19 90; Fax +34/968/261 91, E-mail:

Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder affecting lysosome-related organelles (LRO), including dense platelet granules. HPS causes oculocutaneous hypopigmentation, bleeding diathesis and granulomatous colitis or pulmonary fibrosis. To date, there is no curative treatment and the clinical management depends on the severity of symptoms. Read More