Literature DB >> 25468649

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

Yasuhiro Ikawa1, Richard Hess2, Heidi Dorward2, Andrew R Cullinane2, Marjan Huizing2, Bernadette R Gochuico2, William A Gahl2, Fabio Candotti3.   

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. Published by Elsevier Inc.

Entities:  

Keywords:  Gene therapy; Hermansky–Pudlak syndrome; Lentivirus; Melanocytes; Pulmonary fibrosis

Mesh：

Substances：

Year:  2014        PMID： 25468649      PMCID： PMC4279856          DOI： 10.1016/j.ymgme.2014.11.006

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  14 in total

1.  Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.

Authors:  Bernadette R Gochuico; Marjan Huizing; Gretchen A Golas; Charles D Scher; Maria Tsokos; Stacey D Denver; Melissa J Frei-Jones; William A Gahl
Journal:  Mol Med       Date:  2012-02-10       Impact factor: 6.354

Review 2.  Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.

Authors:  Marjan Huizing; Amanda Helip-Wooley; Wendy Westbroek; Meral Gunay-Aygun; William A Gahl
Journal:  Annu Rev Genomics Hum Genet       Date:  2008       Impact factor: 8.929

Review 3.  Expert opinion in biological therapy: update on developments in lung gene transfer.

Authors:  Uta Griesenbach; Eric W F W Alton
Journal:  Expert Opin Biol Ther       Date:  2013-01-05       Impact factor: 4.388

4.  Rab38 targets to lamellar bodies and normalizes their sizes in lung alveolar type II epithelial cells.

Authors:  Linghui Zhang; Kevin Yu; Kyle W Robert; Kristine M DeBolt; Nankang Hong; Jian-Qin Tao; Mitsunori Fukuda; Aron B Fisher; Shaohui Huang
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2011-07-15       Impact factor: 5.464

5.  A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.

Authors:  Andrew R Cullinane; James A Curry; Gretchen Golas; James Pan; Carmelo Carmona-Rivera; Richard A Hess; James G White; Marjan Huizing; William A Gahl
Journal:  Pigment Cell Melanoma Res       Date:  2012-08-02       Impact factor: 4.693

6.  Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes.

Authors:  Y Nakatani; N Nakamura; J Sano; Y Inayama; N Kawano; S Yamanaka; Y Miyagi; Y Nagashima; C Ohbayashi; M Mizushima; T Manabe; M Kuroda; T Yokoi; O Matsubara
Journal:  Virchows Arch       Date:  2000-09       Impact factor: 4.064

7.  Correction of a mouse model of sickle cell disease: lentiviral/antisickling beta-globin gene transduction of unmobilized, purified hematopoietic stem cells.

Authors:  Dana N Levasseur; Thomas M Ryan; Kevin M Pawlik; Tim M Townes
Journal:  Blood       Date:  2003-08-21       Impact factor: 22.113

8.  The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome.

Authors:  Lisa R Young; Peter M Gulleman; James P Bridges; Timothy E Weaver; Gail H Deutsch; Timothy S Blackwell; Francis X McCormack
Journal:  Am J Respir Crit Care Med       Date:  2012-10-04       Impact factor: 21.405

9.  Sustained high-level polyclonal hematopoietic marking and transgene expression 4 years after autologous transplantation of rhesus macaques with SIV lentiviral vector-transduced CD34+ cells.

Authors:  Yoo-Jin Kim; Yoon-Sang Kim; Andre Larochelle; Gabriel Renaud; Tyra G Wolfsberg; Rima Adler; Robert E Donahue; Peiman Hematti; Bum-Kee Hong; Jean Roayaei; Keiko Akagi; Janice M Riberdy; Arthur W Nienhuis; Cynthia E Dunbar; Derek A Persons
Journal:  Blood       Date:  2009-04-01       Impact factor: 22.113

10.  BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.

Authors:  Andreas Gerondopoulos; Lars Langemeyer; Jin-Rui Liang; Andrea Linford; Francis A Barr
Journal:  Curr Biol       Date:  2012-10-18       Impact factor: 10.834
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  5 in total

Review 1.  Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.

Authors:  Glenn W Vicary; Yeidyly Vergne; Alberto Santiago-Cornier; Lisa R Young; Jesse Roman
Journal:  Ann Am Thorac Soc       Date:  2016-10

Review 2.  Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics.

Authors:  Pamela Velázquez-Díaz; Erika Nakajima; Parand Sorkhdini; Ashley Hernandez-Gutierrez; Adam Eberle; Dongqin Yang; Yang Zhou
Journal:  Front Pharmacol       Date:  2021-03-18       Impact factor: 5.810

3.  Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs.

Authors:  Takahiro Suezawa; Shuhei Kanagaki; Yohei Korogi; Kazuhisa Nakao; Toyohiro Hirai; Koji Murakami; Masatoshi Hagiwara; Shimpei Gotoh
Journal:  Respir Res       Date:  2021-11-04

4.  Hermansky-Pudlak syndrome: Mutation update.

Authors:  Marjan Huizing; May C V Malicdan; Jennifer A Wang; Hadass Pri-Chen; Richard A Hess; Roxanne Fischer; Kevin J O'Brien; Melissa A Merideth; William A Gahl; Bernadette R Gochuico
Journal:  Hum Mutat       Date:  2020-01-23       Impact factor: 4.700

5.  Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis.

Authors:  Arnold S Kirshenbaum; Glenn Cruse; Avanti Desai; Geethani Bandara; Maarten Leerkes; Chyi-Chia R Lee; Elizabeth R Fischer; Kevin J O'Brien; Bernadette R Gochuico; Kelly Stone; William A Gahl; Dean D Metcalfe
Journal:  PLoS One       Date:  2016-07-26       Impact factor: 3.240
  5 in total

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