title: In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.
abstract: Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, bleeding tendency and susceptibility to pulmonary fibrosis. No curative therapy is available. Genetic correction directed to the lungs, bone marrow and/or gastro-intestinal tract might provide alternative forms of treatment for the diseases multi-systemic complications. We demonstrate that lentiviral-mediated gene transfer corrects the expression and function of the HPS1 gene in patient dermal melanocytes, which opens the way to development of gene therapy for HPS.
authors.affiliation: Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Ikawa
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Richard
authors.initials: R
authors.lastname: Hess
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Heidi
authors.initials: H
authors.lastname: Dorward
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Cullinane
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Marjan
authors.initials: M
authors.lastname: Huizing
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Bernadette R
authors.initials: BR
authors.lastname: Gochuico
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
authors.affiliation: Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: fabio.candotti@chuv.ch.
authors.forename: Fabio
authors.initials: F
authors.lastname: Candotti
mesh_terms: D002478:Cells, Cultured; D015870:Gene Expression; D015316:Genetic Therapy; D005822:Genetic Vectors; D020662:Guanine Nucleotide Exchange Factors; D022861:Hermanski-Pudlak Syndrome / Q000378:metabolism / Q000628:therapy*; D006801:Humans; D016086:Lentivirus / Q000235:genetics; D008544:Melanocytes / Q000378:metabolism* / Q000648:ultrastructure; D008562:Membrane Glycoproteins / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010088:Oxidoreductases / Q000378:metabolism; D011506:Proteins / Q000235:genetics / Q000378:metabolism; D014161:Transduction, Genetic
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C102160:HPS1 protein, human; C451752:HPS4 protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D011506:Proteins; D010088:Oxidoreductases; C489799:TYRP1 protein, human
keywords: Gene therapy; Hermansky–Pudlak syndrome; Lentivirus; Melanocytes; Pulmonary fibrosis