722 results match your criteria Hermansky-Pudlak Syndrome


Intractable diffuse pulmonary diseases: Manual for diagnosis and treatment.

Respir Investig 2020 Jul 2. Epub 2020 Jul 2.

National Hospital Organization Tokyo Medical Center, Tokyo, Japan. Electronic address:

This manual has been compiled by a joint production committee with the Diffuse Lung Disease Assembly of the Japanese Respiratory Society (JRS) to provide a practical manual for the epidemiology, diagnosis, and treatment of intractable diffuse pulmonary diseases. The contents are based upon the results of research into these diseases by the Diffuse Pulmonary Diseases Study Group (principal researcher: Sakae Homma) supported by the FY2014-FY2016 Health and Labor Sciences Research Grant on Intractable Diseases. This manual focuses on: 1) pulmonary alveolar microlithiasis, 2) bronchiolitis obliterans, and 3) Hermansky-Pudlak Syndrome with interstitial pneumonia. Read More

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http://dx.doi.org/10.1016/j.resinv.2020.04.004DOI Listing

BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.

Genet Med 2020 Jun 22. Epub 2020 Jun 22.

Rare Diseases, Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France.

Purpose: Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, excessive bleeding, and often additional symptoms. Variants in ten different genes have been involved in HPS. However, some patients lack variants in these genes. Read More

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http://dx.doi.org/10.1038/s41436-020-0867-5DOI Listing

Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice-site variant in Hermansky-Pudlak Syndrome 5 gene.

Pigment Cell Melanoma Res 2020 Jun 18. Epub 2020 Jun 18.

Univ Lyon, VetAgro Sup, Marcy l'Etoile, France.

In the feline Donskoy breed, a phenotype that breeders call "pink-eye," with associated light-brown skin, yellow irises and red-eye effect, has been described. Genealogical data indicated an autosomal recessive inheritance pattern. A single candidate region was identified by genome-wide association study and SNP-based homozygosity mapping. Read More

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http://dx.doi.org/10.1111/pcmr.12906DOI Listing

Novel Brown Coat Color (Cocoa) in French Bulldogs Results from a Nonsense Variant in .

Genes (Basel) 2020 Jun 9;11(6). Epub 2020 Jun 9.

Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.

Brown or chocolate coat color in many mammalian species is frequently due to variants at the B locus or gene. In dogs, five different loss-of-function alleles have been described, which explain the vast majority of dogs with brown coat color. Recently, breeders and genetic testing laboratories identified brown French Bulldogs that did not carry any of the known mutant alleles. Read More

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http://dx.doi.org/10.3390/genes11060636DOI Listing

Genetic variants associated with Hermansky-Pudlak syndrome.

Platelets 2020 May 5;31(4):544-547. Epub 2019 Sep 5.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health , Bethesda, MD, USA.

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical manifestations include a bleeding diathesis due to a platelet delta storage pool deficiency, oculocutaneous albinism, inflammatory bowel disease, neutropenia, and pulmonary fibrosis. Ten genes associated with HPS are identified to date, and each gene encodes a protein subunit of either Biogenesis of Lysosome-related Organelles Complex (BLOC)-1, BLOC-2, BLOC-3, or the Adaptor Protein-3 complex. Read More

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http://dx.doi.org/10.1080/09537104.2019.1663810DOI Listing

Hermansky-Pudlak Syndrome.

Semin Respir Crit Care Med 2020 Apr 12;41(2):238-246. Epub 2020 Apr 12.

Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Hermansky-Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction bronchiectasis develop with progression of PF. HPS is an orphan disease occurring in 1 in 500,000 to 1,000,000 individuals worldwide, though the prevalence is 1 in 1,800 in individuals with Puerto Rican heritage. Read More

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http://dx.doi.org/10.1055/s-0040-1708088DOI Listing

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.

Platelets 2020 Apr 3:1-4. Epub 2020 Apr 3.

Service Génétique Médicale, CHU Bordeaux, Bordeaux, France.

Hermansky-Pudlak syndrome (HPS) is a rare form of syndromic oculocutaneous albinism caused by disorders in lysosome-related organelles. Ten genes are associated with different forms of HPS. HPS type 9 (HPS-9) is caused by biallelic variants of . Read More

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http://dx.doi.org/10.1080/09537104.2020.1742315DOI Listing

Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7.

Sci Rep 2020 Mar 4;10(1):3972. Epub 2020 Mar 4.

Department of Biomedical and Biotechnological Sciences, School of Medicine, University of Catania, Catania, Italy.

Deletion of dystrobrevin binding protein 1 has been linked to Hermansky-Pudlak syndrome type 7 (HPS-7), a rare disease characterized by oculocutaneous albinism and retinal dysfunction. We studied dysbindin-1 null mutant mice (Dys) to shed light on retinal neurodevelopment defects in HPS-7. We analyzed the expression of a focused set of miRNAs in retina of wild type (WT), Dys and Dys mice. Read More

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http://dx.doi.org/10.1038/s41598-020-60931-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055265PMC

The Mutation of the Ap3b1 Gene Causes Uterine Hypoplasia in Pearl Mice.

Reprod Sci 2020 01 1;27(1):182-191. Epub 2020 Jan 1.

Shandong Provincial Key Laboratory of Animal Cells and Developmental Biology, Institute of Developmental Biology, School of Life Sciences, Shandong University, 250100, Jinan, Shandong, People's Republic of China.

The pearl (pe) mouse mutant has been identified as a model for Hermansky-Pudlak syndrome and bears a mutation in the beta3A subunit of the AP-3 complex, which has a core function in the biogenesis and function of various lysosomal-related organelles. Through large-scale mating, we found that female pearl mice also displayed reduced fertility with a smaller litter size. Abnormal uteri in both 1-month-old and 3-month-old mice were observed as having short and thin uterine horns, indicating abnormal development. Read More

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http://dx.doi.org/10.1007/s43032-019-00006-7DOI Listing
January 2020

Hermansky-Pudlak syndrome: Mutation update.

Hum Mutat 2020 Mar 23;41(3):543-580. Epub 2020 Jan 23.

Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficiency of a specific gene. HPS-associated genes encode components of four ubiquitously expressed protein complexes: Adaptor protein-3 (AP-3) and biogenesis of lysosome-related organelles complex-1 (BLOC-1) through -3. All individuals with HPS exhibit albinism and a bleeding diathesis; additional features occur depending on the defective protein complex. Read More

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http://dx.doi.org/10.1002/humu.23968DOI Listing

Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3.

Platelets 2019 Dec 27:1-4. Epub 2019 Dec 27.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Medical Center - University of Freiburg, Germany.

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in 10 human genes, characterized by oculocutaneous albinism (OCA) and bleeding diathesis associated to platelet δ-storage pool defect (SPD).We report a case of 4-year-old boy from non-consanguineous parents with OCA and negative personal and familiar hemorrhagic history, referred to us for severe bleeding after mild trauma. His platelet function, studied by lumi-aggregometry, showed normal first wave of aggregation in response to exogenous agonists and impaired second wave with defective ATP release. Read More

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http://dx.doi.org/10.1080/09537104.2019.1704716DOI Listing
December 2019

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2.

J Dermatol 2020 Feb 9;47(2):185-189. Epub 2019 Dec 9.

Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.

Hermansky-Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive inherited disease characterized by partial oculocutaneous albinism (OCA), bleeding diathesis due to a storage pool deficiency and immunodeficiency. The disorder is caused by disruption of the adapter protein 3 complex, which is involved in impaired intracellular vesicle transport. Here, we report the first case of a 1-year-old girl with HPS2 in Asia. Read More

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http://dx.doi.org/10.1111/1346-8138.15177DOI Listing
February 2020

Characterizing renal involvement in Hermansky-Pudlak Syndrome in a zebrafish model.

Sci Rep 2019 11 27;9(1):17718. Epub 2019 Nov 27.

Department of Medicine/Nephrology, Hannover Medical School, 30625, Hannover, Germany.

Hermansky-Pudlak Syndrome (HPS) is a rare disease caused by mutations in the genes coding for various HPS proteins. HPS proteins are part of multi-subunit complexes involved in the biogenesis of organelles from the lysosomal-endosomal-system. In humans, this syndrome is characterized by the presence of albinism, platelet dysfunction and pulmonary fibrosis. Read More

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http://dx.doi.org/10.1038/s41598-019-54058-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881439PMC
November 2019

Extracorporeal Membrane Oxygenation Bridge to Lung Transplantation in a Patient with Hermansky-Pudlak Syndrome and Progressive Pulmonary Fibrosis.

Acute Crit Care 2019 Feb 28;34(1):95-98. Epub 2019 Feb 28.

Division of Pulmonology, Department of Internal Medicine, Institute of Chest Diseases, Yonsei University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.4266/acc.2018.00402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849041PMC
February 2019

Possible value of antifibrotic drugs in patients with progressive fibrosing non-IPF interstitial lung diseases.

BMC Pulm Med 2019 Nov 12;19(1):213. Epub 2019 Nov 12.

Center for interstitial and rare lung diseases, Pneumology, Thoraxklinik, University of Heidelberg, Germany and German Center for Lung Research, Heidelberg, Germany.

Background: Fibrosing, non-idiopathic pulmonary fibrosis (non-IPF) interstitial lung diseases (fILDs) are a heterogeneous group of diseases characterized by a different amount of inflammation and fibrosis. Therapy is currently based on corticosteroids and/or immunomodulators. However, response to these therapies is highly variable, sometimes without meaningful improvement, especially in more fibrosing forms. Read More

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http://dx.doi.org/10.1186/s12890-019-0937-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852748PMC
November 2019

Speckled lentiginous nevus in a patient with Hermansky-Pudlak syndrome type 1.

J Dermatol 2020 Jan 17;47(1):e20-e21. Epub 2019 Oct 17.

Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1111/1346-8138.15121DOI Listing
January 2020
1 Read

Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky-Pudlak syndrome type 3.

J Dermatol 2020 Jan 16;47(1):e18-e20. Epub 2019 Oct 16.

Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1111/1346-8138.15118DOI Listing
January 2020
1 Read

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.

BMC Pulm Med 2019 Oct 16;19(1):178. Epub 2019 Oct 16.

Department of Internal Medicine, Hematology and Oncology, University Hospital and Faculty of Medicine, Jihlavská 20, 625 00, Brno, Czech Republic.

Background: Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diathesis, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes. Homozygous or compound heterozygous pathological variants in HPS1, HPS3, HPS4, and several other genes lead to clinical manifestation of the disease.

Case Presentation: A 57-year-old female was admitted with congenital oculocutaneous albinism, thrombocytopathy and late-onset accelerated pulmonary fibrosis (first symptoms from age 50 onwards). Read More

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http://dx.doi.org/10.1186/s12890-019-0941-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794755PMC
October 2019
1 Read

Hexa-Longin domain scaffolds for inter-Rab signalling.

Bioinformatics 2020 Feb;36(4):990-993

Medical Research Council Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh EH4 2XU, UK.

Summary: CPLANE is a protein complex required for assembly and maintenance of primary cilia. It contains several proteins, such as INTU, FUZ, WDPCP, JBTS17 and RSG1 (REM2- and RAB-like small GTPase 1), whose genes are mutated in ciliopathies. Using two contrasting evolutionary analyses, coevolution-based contact prediction and sequence conservation, we first identified the INTU/FUZ heterodimer as a novel member of homologous HerMon (Hermansky-Pudlak syndrome and MON1-CCZ1) complexes. Read More

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http://dx.doi.org/10.1093/bioinformatics/btz739DOI Listing
February 2020
2 Reads

Treatment of Hermansky-Pudlak syndrome Associated granulomatous colitis with anti-TNF agents: case series and review of literature.

Eur J Gastroenterol Hepatol 2019 12;31(12):1597-1600

Department of Gastroenterology, School of Medicine, Marmara University, Istanbul, Turkey.

Hermansky-Pudlak syndrome is a rare syndrome characterized by bleeding diathesis due to platelet dysfunction, oculocutaneous albinism and other systemic involvements. Granulomatous colitis may occur in the disease course and have similarities with Crohn's disease. Herein, we present four cases with Hermansky-Pudlak syndrome associated colitis with the longest follow-up period having various responses to different anti-TNF agents. Read More

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http://dx.doi.org/10.1097/MEG.0000000000001510DOI Listing
December 2019
2 Reads

A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.

Medicine (Baltimore) 2019 Aug;98(33):e16899

Department of Medical Genetics, Institute of Medical Biology, Peking Union Medical University & Chinese Academy of Medical Sciences.

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive multisystem disorder characterized by oculocutaneous albinism (OCA) and bleeding diathesis, although it displays both genetic and phenotypic heterogeneity. Several genetic subtypes of HPS have been identified in human; however, the characterizations of HPS type 4 (HPS-4) genotype and phenotype remain unclear. This study was aimed to identify gene mutation responsible for HPS-4 with pulmonary fibrosis (PF). Read More

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http://dx.doi.org/10.1097/MD.0000000000016899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831253PMC
August 2019
5 Reads

Combined deficiency of RAB32 and RAB38 in the mouse mimics Hermansky-Pudlak syndrome and critically impairs thrombosis.

Blood Adv 2019 08;3(15):2368-2380

Université de Strasbourg, INSERM, Etablissement Français du Sang Grand Est, BPPS UMR-S 1255, Fédération de Médecine Translationnelle de Strasbourg, Strasbourg, France.

The biogenesis of lysosome related organelles is defective in Hermansky-Pudlak syndrome (HPS), a disorder characterized by oculocutaneous albinism and platelet dense granule (DG) defects. The first animal model of HPS was the fawn-hooded rat, harboring a spontaneous mutation inactivating the small guanosine triphosphatase This leads to coat color dilution associated with the absence of DGs and lung morphological defects. Another RAB38 mutant, the mouse, has normal DGs, which has raised controversy about the role of RAB38 in DG biogenesis. Read More

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http://dx.doi.org/10.1182/bloodadvances.2019031286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693013PMC
August 2019
4 Reads

Hermansky-Pudlak syndrome with interstitial lung disease: A holistically worked up couplet.

Lung India 2019 Jul-Aug;36(4):345-348

Department of Pulmonary Medicine, T. N. Medical College, B. Y. L. Nair Hospital, Mumbai, Maharashtra, India.

Hermansky-Pudlak syndrome (HPS) is an extremely subtile autosomal recessive disorder characterized by tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding tendencies, and systemic complications associated to lysosomal dysfunction. The most grave complication of disease is interstitial lung disease (ILD) leading to irrevocable pulmonary fibrosis. Patients with HPS-1, HPS-2, and HPS-4 variants have a penchant to develop pulmonary fibrosis. Read More

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http://dx.doi.org/10.4103/lungindia.lungindia_258_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625230PMC
July 2019
8 Reads

Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome.

Orphanet J Rare Dis 2019 07 4;14(1):162. Epub 2019 Jul 4.

Center for Translational Medicine and Jane and Leonard Korman Lung Center, Thomas Jefferson University, Philadelphia, USA.

Background: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction and can sometimes lead to a highly aggressive form of pulmonary fibrosis that mimics the fatal lung condition called idiopathic pulmonary fibrosis (IPF). Although the activities of various matrix metalloproteinases (MMPs) are known to be dysregulated in IPF, it remains to be determined whether similar changes in these enzymes can be detected in HPS.

Results: Here, we show that transcript and protein levels as well as enzymatic activities of MMP-2 and -9 are markedly increased in the lungs of mice carrying the HPS Ap3b1 gene mutation. Read More

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http://dx.doi.org/10.1186/s13023-019-1143-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610946PMC
July 2019
8 Reads

Modeling of Fibrotic Lung Disease Using 3D Organoids Derived from Human Pluripotent Stem Cells.

Cell Rep 2019 06;27(12):3709-3723.e5

Columbia Center for Human Development, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA; Division of Pulmonary Medicine, Allergy, and Critical Care, Columbia University Medical Center, New York, NY 10032, USA; Department of Microbiology and Immunology, Columbia University Medical Center, New York, NY 10032, USA. Electronic address:

The pathogenesis of idiopathic pulmonary fibrosis (IPF), an intractable interstitial lung disease, is unclear. Recessive mutations in some genes implicated in Hermansky-Pudlak syndrome (HPS) cause HPS-associated interstitial pneumonia (HPSIP), a clinical entity that is similar to IPF. We previously reported that HPS1 embryonic stem cell-derived 3D lung organoids showed fibrotic changes. Read More

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http://dx.doi.org/10.1016/j.celrep.2019.05.077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594401PMC
June 2019
9 Reads

Defective Zn homeostasis in mouse and human platelets with α- and δ-storage pool diseases.

Sci Rep 2019 06 6;9(1):8333. Epub 2019 Jun 6.

Institute of Experimental Biomedicine, University Hospital and Rudolf Virchow Center, University of Würzburg, Würzburg, Germany.

Zinc (Zn) can modulate platelet and coagulation activation pathways, including fibrin formation. Here, we studied the (patho)physiological consequences of abnormal platelet Zn storage and release. To visualize Zn storage in human and mouse platelets, the Zn specific fluorescent dye FluoZin3 was used. Read More

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http://dx.doi.org/10.1038/s41598-019-44751-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554314PMC
June 2019
18 Reads

NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism.

Pigment Cell Melanoma Res 2019 11 9;32(6):848-853. Epub 2019 Jun 9.

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

Albinism, which is commonly inherited as an autosomal recessive trait, is characterized by a reduction or absence of melanin in the eyes, skin, and hair. To date, more than 20 causal genes for albinism have been identified; thus, the accurate diagnosis of albinism requires next-generation sequencing (NGS). In this study, we analyzed 46 patients who tested negative for oculocutaneous albinism (OCA)1-4 and Hermansky-Pudlak syndrome (HPS)1 based on conventional analysis, in addition to 28 new Japanese patients, using NGS-based targeted resequencing. Read More

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http://dx.doi.org/10.1111/pcmr.12800DOI Listing
November 2019
11 Reads

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.

Ann Med 2019 03 16;51(2):141-148. Epub 2019 Apr 16.

c Department of Hematology and Oncology, University Hospital of Morales Meseguer, Centro Regional de Hemodonación, University of Murcia , Murcia , Spain.

Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and a myriad of often-serious clinical complications. We established the clinical and laboratory phenotype and genotype of six unrelated pedigrees comprising ten patients with clinical suspicion of HPS; including platelet aggregation, flow cytometry, platelet dense granule content, electron microscopy and high-throughput sequencing (HTS). The clinical presentation showed significant heterogeneity and no clear phenotype-genotype correlations. Read More

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http://dx.doi.org/10.1080/07853890.2019.1587498DOI Listing
March 2019
26 Reads
3.886 Impact Factor

Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature.

J Allergy Clin Immunol Pract 2019 Sep - Oct;7(7):2476-2478.e5. Epub 2019 Apr 8.

Department of Pediatrics, Fondazione MBBM, University of Milano-Bicocca, Monza, Italy.

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http://dx.doi.org/10.1016/j.jaip.2019.04.001DOI Listing
April 2019
10 Reads

The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.

Traffic 2019 06;20(6):404-435

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania.

Lysosome-related organelles (LROs) comprise a diverse group of cell type-specific, membrane-bound subcellular organelles that derive at least in part from the endolysosomal system but that have unique contents, morphologies and functions to support specific physiological roles. They include: melanosomes that provide pigment to our eyes and skin; alpha and dense granules in platelets, and lytic granules in cytotoxic T cells and natural killer cells, which release effectors to regulate hemostasis and immunity; and distinct classes of lamellar bodies in lung epithelial cells and keratinocytes that support lung plasticity and skin lubrication. The formation, maturation and/or secretion of subsets of LROs are dysfunctional or entirely absent in a number of hereditary syndromic disorders, including in particular the Hermansky-Pudlak syndromes. Read More

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http://dx.doi.org/10.1111/tra.12646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541516PMC
June 2019
12 Reads

Precise therapeutic gene correction by a simple nuclease-induced double-stranded break.

Nature 2019 04 3;568(7753):561-565. Epub 2019 Apr 3.

Department of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, MA, USA.

Current programmable nuclease-based methods (for example, CRISPR-Cas9) for the precise correction of a disease-causing genetic mutation harness the homology-directed repair pathway. However, this repair process requires the co-delivery of an exogenous DNA donor to recode the sequence and can be inefficient in many cell types. Here we show that disease-causing frameshift mutations that result from microduplications can be efficiently reverted to the wild-type sequence simply by generating a DNA double-stranded break near the centre of the duplication. Read More

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http://dx.doi.org/10.1038/s41586-019-1076-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483862PMC
April 2019
31 Reads

Coexistence of Hermansky-Pudlak syndrome and JAK2-positive essential thrombocythemia.

Ultrastruct Pathol 2019 1;43(1):94-98. Epub 2019 Apr 1.

b Department of Histology, Cerrahpasa Faculty of Medicine , Istanbul University-Cerrahpasa , Istanbul , Turkey.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder consisting of oculocutaneous albinism, platelet storage pool deficiency, and lysosomal accumulation of ceroid lipofuscin. The storage pool deficiency of HPS is associated with the lack of dense bodies in the platelets, resulting in impaired response in the secondary phase of aggregation. Patients with HPS have normal coagulation tests; however, their bleeding time is usually prolonged despite normal or increased platelet counts. Read More

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http://dx.doi.org/10.1080/01913123.2019.1593269DOI Listing
December 2019
36 Reads
1.133 Impact Factor

The BLOC-3 subunit HPS4 is required for activation of Rab32/38 GTPases in melanogenesis, but its Rab9 activity is dispensable for melanogenesis.

J Biol Chem 2019 04 5;294(17):6912-6922. Epub 2019 Mar 5.

From the Laboratory of Membrane Trafficking Mechanisms, Department of Integrative Life Sciences, Graduate School of Life Sciences, Tohoku University, Aobayama, Aoba-ku, Sendai, Miyagi 980-8578, Japan

() is one of the genes whose mutations have been associated with Hermansky-Pudlak syndrome (HPS), characterized by ocular albinism and susceptibility to bleeding because of defects in the biogenesis of lysosome-related organelles such as melanosomes. HPS4 protein forms a BLOC-3 complex with HPS1, another gene product, and the complex has been proposed to function as a guanine nucleotide exchange factor (GEF) for RAB32, a member of the Rab small GTPase family (Rab32), and Rab38 (Rab32/38-GEF) and also as a Rab9 effector. Although both Rab32/38 and Rab9 have been shown previously to be involved in melanogenesis in mammalian epidermal melanocytes, the functional relationships of these small GTPases with BLOC-3 remain unknown. Read More

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http://dx.doi.org/10.1074/jbc.RA119.007345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497944PMC
April 2019
7 Reads

Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report.

World J Gastroenterol 2019 Feb;25(8):1031-1036

Institut des Maladies de l'Appareil Digestif, Department of Gastroenterology and Digestive Oncology, Nantes University Hospital, Nantes Cedex 44093, France.

Background: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency and systemic complications associated with ceroid deposition in the reticuloendothelial system. HPS types 1 and 4 are associated with Crohn's disease (CD)-like gastrointestinal disorders, such as granulomatous enterocolitis or perianal disease. Cases of colitis can be particularly severe and, before the use of anti-tumor necrosis factor alpha (TNFα) therapy had become common, were reported as showing poor responsiveness to medical treatment. Read More

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http://dx.doi.org/10.3748/wjg.v25.i8.1031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6397731PMC
February 2019
11 Reads

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Orphanet J Rare Dis 2019 02 21;14(1):52. Epub 2019 Feb 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

Background: Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with oculocutaneous albinism and easy bruisability.

Results: The patients were evaluated at a single center; their ages ranged from 3 to 8 years. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1023-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385472PMC
February 2019
14 Reads

Different functions of biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes on spermatogenesis and male fertility.

Reprod Fertil Dev 2019 Apr;31(5):972-982

Shandong Provincial Key Laboratory of Animal Cells and Developmental Biology, Institute of Developmental Biology, School of Life Sciences, Shandong University, Jinan, Shandong 250100, PR China; and Corresponding authors. Emails:

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder in humans and mice. Pale ear (ep) and pearl (pe) mice, bearing mutations in the biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes respectively, are mouse models of human HPS Type 1 (HPS1) and Type 2 (HPS2) respectively. In the present study we investigated and compared the reduced fertilities of ep and pe male mice. Read More

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http://www.publish.csiro.au/?paper=RD18339
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http://dx.doi.org/10.1071/RD18339DOI Listing
April 2019
20 Reads

In Vitro Disease Modeling of Hermansky-Pudlak Syndrome Type 2 Using Human Induced Pluripotent Stem Cell-Derived Alveolar Organoids.

Stem Cell Reports 2019 03 14;12(3):431-440. Epub 2019 Feb 14.

Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto 606-8507, Japan.

It has been challenging to generate in vitro models of alveolar lung diseases, as the stable culture of alveolar type 2 (AT2) cells has been difficult. Methods of generating and expanding AT2 cells derived from induced pluripotent stem cells (iPSCs) have been established and are expected to be applicable to disease modeling. Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by dysfunction of lysosome-related organelles, such as lamellar bodies (LBs), in AT2 cells. Read More

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http://dx.doi.org/10.1016/j.stemcr.2019.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409438PMC
March 2019
11 Reads

Unilateral retinoblastoma in a patient with Hermansky-Pudlak syndrome.

Ophthalmic Genet 2019 02 4;40(1):83-85. Epub 2019 Feb 4.

b Hamilton Eye Institute, Department of Ophthalmology , University of Tennessee , Memphis , TN , USA.

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http://dx.doi.org/10.1080/13816810.2019.1571618DOI Listing
February 2019
4 Reads

Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids.

Biosci Rep 2019 02 19;39(2). Epub 2019 Feb 19.

Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; Genetics and Birth Defects Control Center, National Center for Children's Health; MOE Key Laboratory of Major Diseases in Children; Beijing Children's Hospital, Capital Medical University, Beijing 100045, China

Atherosclerosis is characterized by the accumulation of lipid-rich plaques in the arterial wall. Its pathogenesis is very complicated and has not yet been fully elucidated. It is known that dyslipidemia is a major factor in atherosclerosis. Read More

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http://dx.doi.org/10.1042/BSR20182339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379572PMC
February 2019
7 Reads
2.637 Impact Factor

Comparative study of platelet aggregation and secretion induced by Bothrops jararaca snake venom and thrombin.

Toxicon 2019 Mar 21;159:50-60. Epub 2019 Jan 21.

Instituto Butantan, Laboratório de Fisiopatologia, Av. Dr. Vital Brazil, 1500, 05503-900, São Paulo, SP, Brazil; Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil. Electronic address:

Victims of Bothrops jararaca snakebites manifest bleedings, blood incoagulability, platelet dysfunction, and thrombocytopenia, and the latter has been directly implicated in the genesis of hemorrhagic diathesis. We addressed herein the direct effects of B. jararaca venom (BjV) on ex vivo platelet aggregation and granule secretion in washed human and mouse platelets. Read More

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http://dx.doi.org/10.1016/j.toxicon.2019.01.003DOI Listing
March 2019
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Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series.

Eur J Haematol 2019 May 6;102(5):432-436. Epub 2019 Mar 6.

Department of Surgery, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico.

Introduction: The Hermansky-Pudlak syndrome (HPS) is an autosomal recessive rare disorder characterized by oculocutaneous albinism, bleeding diathesis, chronic granulomatous colitis and/or pulmonary fibrosis. HPS is the most common single-gene disorder in Puerto Rico with a prevalence of 1:1,800 in the Northwest of the island. Risk of menorrhagia and post-partum hemorrhage (PPH) in cases of women with HPS have been described in the medical literature, but data regarding comprehensive description of bleeding diathesis remains lacking. Read More

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http://dx.doi.org/10.1111/ejh.13210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6545108PMC
May 2019
33 Reads

Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.

BMC Gastroenterol 2019 Jan 11;19(1). Epub 2019 Jan 11.

Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011, Japan.

Background: Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency. Ten genetic subtypes of this autosomal recessive condition have been described to date. Some patients with Hermansky-Pudlak syndrome type 1, 4, or 6 develop Crohn's-like inflammatory bowel disease at any age including early childhood, but most often in adolescence or young adulthood. Read More

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https://bmcgastroenterol.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/s12876-019-0929-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329123PMC
January 2019
37 Reads

Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells.

Haematologica 2019 10 10;104(10):2091-2099. Epub 2019 Jan 10.

Molecular and Cellular Hemostasis, Sanquin Research and Landsteiner Laboratory, Amsterdam UMC, University of Amsterdam, Amsterdam

Weibel-Palade bodies are endothelial secretory organelles that contain von Willebrand factor, P-selectin and CD63. Release of von Willebrand factor from Weibel-Palade bodies is crucial for platelet adhesion during primary hemostasis. Endosomal trafficking of proteins like CD63 to Weibel-Palade bodies during maturation is dependent on the adaptor protein complex 3 complex. Read More

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http://www.haematologica.org/lookup/doi/10.3324/haematol.201
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http://dx.doi.org/10.3324/haematol.2018.207787DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886443PMC
October 2019
33 Reads

Platelet-Dense Granules Worsen Pre-Infection Thrombocytopenia during Gram-Negative Pneumonia-Derived Sepsis.

J Innate Immun 2019 17;11(2):168-180. Epub 2018 Dec 17.

Center for Experimental and Molecular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Platelet-dense (δ) granules are important for platelet function. Platelets contribute to host defense and vascular integrity during pneumonia and sepsis, and δ granule products, including adenosine diphosphate (ADP), can influence inflammatory responses. We therefore aimed to study the role of platelet δ granules in the host response during sepsis. Read More

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http://dx.doi.org/10.1159/000494147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6738263PMC
May 2020
8 Reads

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

Eur J Med Genet 2019 Nov 22;62(11):103583. Epub 2018 Nov 22.

Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman. Electronic address:

Several types of Hermansky-Pudlak syndromes (HPS) represent a group of immunodeficiency syndromes that feature both leukocyte defects with partial albinism of hair, skin, and eyes. These conditions share defects in genes that encode proteins involved in the biogenesis, function, and trafficking of secretory lysosomes. Mutations in AP3D1 which encode the main subunit AP-3(δ) were recently reported on one individual and led to Hermansky-Pudlak Syndrome type 10 (HPS10; OMIM 617050). Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.017DOI Listing
November 2019
9 Reads

A 40-Year-Old Man With Albinism and Progressive Dyspnea.

Chest 2018 11;154(5):e143-e146

Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN.

Case Presentation: A 40-year-old male subject employed as a grocery store manager presented to a pulmonary clinic with a dry cough and progressive dyspnea of 1 year duration. The patient was previously an avid cyclist and first noted his dyspnea when he was unable to bike as far as before. Bilateral interstitial lung infiltrates were recently noted on chest radiography. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00123692183081
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http://dx.doi.org/10.1016/j.chest.2018.05.032DOI Listing
November 2018
4 Reads