Genomes and Genes
Affiliation: National Institutes of Health
- Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5Amanda Helip-Wooley
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892 1851, USA
J Invest Dermatol 127:1471-8. 2007..We conclude that early stage melanosome formation and Pmel17 trafficking are preserved in HPS5-deficient cells. Tyrosinase and TYRP1 are mistrafficked, however, and fail to be efficiently delivered to melanosomes of HPS-5 melanocytes...
- Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genesAmanda Helip-Wooley
Hayward Human Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, USA
Exp Cell Res 292:89-100. 2004..Sucrose-induced vacuolation is a useful model in which to study the regulation of lysosomal gene expression and biogenesis...
- Association of the Hermansky-Pudlak syndrome type-3 protein with clathrinAmanda Helip-Wooley
Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
BMC Cell Biol 6:33. 2005..HPS type-3 (HPS-3) results from mutations in the HPS3 gene, which encodes a 1004 amino acid protein of unknown function that contains a predicted clathrin-binding motif (LLDFE) at residues 172-176...
- Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5Marjan Huizing
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Traffic 5:711-22. 2004..This specific intracellular vesicle distribution in fibroblasts, in combination with the clinical features, will improve the characterization of the HPS-5 subtype...
- Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndromeMarjan Huizing
National Human Genome Research Institute, National Institutes of Health, Section on Human Biochemical Genetics, Medical Genetics Branch, Bethesda, MD 20892 1851, USA
Platelets 18:150-7. 2007..Thus, it is unlikely that the generalized bleeding diathesis of HPS is attributed to a deficiency of alpha granules...
- Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprintingHoria Stanescu
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Ann Hum Genet 73:422-8. 2009..These findings illustrate the power of phylogenetic footprinting for identifying potential regulatory regions in non-coding sequences and define the first putative promoter elements for any HPS genes...
- Disorders of lysosome-related organelle biogenesis: clinical and molecular geneticsMarjan Huizing
Cell Biology of Metabolic Disorders Unit, National Institutes of Health, Bethesda, Maryland 20892, USA
Annu Rev Genomics Hum Genet 9:359-86. 2008..In this review, we discuss the main components of LRO biogenesis. We also summarize the function, composition, and resident cell types of the major LROs. Finally, we describe the clinical characteristics of the major human LRO disorders...
- A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndromeWendy Westbroek
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
Mol Genet Metab 94:248-54. 2008..Co-immunoprecipitation studies showed that Rab27A(G43S) fails to interact with its effector Melanophilin, indicating that the switch I region functions in the recruitment of Rab effector proteins...
- Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1Farshid N Rouhani
Pulmonary Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Am J Respir Crit Care Med 180:1114-21. 2009..The etiology of pulmonary fibrosis associated with HPS-1 is unknown...
- Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cellsMargaret Park
Hayward Genetics Center, Tulane University Health Sciences Center, 1430 Tulane Avenue, New Orleans, LA 70112, USA
J Am Soc Nephrol 13:2878-87. 2002..The variant forms may represent co-segregation or linkage of rare alleles that confer resistance to apoptosis, moderating the cell loss and causing the milder disease expression...
- An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndromeRamin Nazarian
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Mol Genet Metab 93:134-44. 2008....
- Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3Raymond E Boissy
Department of Dermatology, University of Cincinnati College of Medicine, 231 Albert Sabin Way, ML 0592, Cincinnati, OH 45267 0592, USA
Am J Pathol 166:231-40. 2005..These results suggest that a specific subset of melanocyte proteins are aberrantly trafficked throughout the HPS-3 melanocyte and may be responsible for the reduction in melanin synthesis...
- Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complexBabette Gwynn
The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA
Blood 104:3181-9. 2004..Defects in all the 5 known components of BLOC-1, including RP, cause severe HPS in mice, suggesting that the subunits are nonredundant and that BLOC-1 plays a key role in organelle biogenesis...
- Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotypeWendy Westbroek
J Invest Dermatol 127:2674-7. 2007
- A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristicsNira Schreyer-Shafir
Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel
Hum Mutat 27:1158. 2006..Two major genetic isolates of HPS-1 and HPS-3 patients were previously diagnosed in Puerto Rico. The extended Bedouin family is the largest isolate of non-Puerto Rican HPS patients...