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Genomes and Genes | W A GahlSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedropsW A Gahl
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892, USA
Mol Genet Metab 71:100-20. 2000..Administration of 0.55% cysteamine eyedrops, given 6 to 12 times per day, dissolved corneal cystine crystals in 10 representative patients with nephropathic cystinosis aged 1 to 32 years within 8 to 41 months...
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiencyM Huizing
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 69:1022-32. 2001..These findings expand the molecular diagnosis of HPS, provide a screening method for a mutation common among Jews, and suggest that other patients with mild hypopigmentation and decreased vision should be examined for HPS...- Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlationsY Anikster
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Pediatr Res 47:17-23. 2000..Each of these mechanisms could result in minimally reduced lysosomal cystine transport in the kidneys... - CTNS mutations in African American patients with cystinosisR Kleta
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development NIH, 10 Center Drive, Building 10, Bethesda, MD 20892, USA
Mol Genet Metab 74:332-7. 2001..We conclude that the diagnosis of cystinosis should be entertained in African Americans with symptoms of the disease, and that mutation analysis for the 57-kb deletion should be considered in this group of patients... - Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndromeS Hazelwood
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
Am J Hum Genet 61:1088-94. 1997..In addition, HPS most likely displays locus heterogeneity, consistent with the existence of several mouse strains manifesting both pigment dilution and a platelet storage-pool deficiency... - AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytesM Huizing
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Mol Biol Cell 12:2075-85. 2001..Finally, our studies demonstrate that tyrosinase and TRP-1 use different mechanisms to reach their premelanosomal destination... - Carrier-mediated transport of monoiodotyrosine out of thyroid cell lysosomesF Tietze
Laboratory of Molecular and Cell Biology, National Institute of Diabetes and Digestive and Kidney Disease, Bethesda, Maryland 20892
J Biol Chem 264:4762-5. 1989..The existence of a lysosomal MIT carrier in thyroid cells may explain how this product of thyroglobulin catabolism is transported to the cytosol for iodine salvage and reutilization... - The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical regionC Phornphutkul
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 69:712-21. 2001..These findings suggest that the CTNS promoter region should be examined in patients with cystinosis who have fewer than two coding-sequence mutations... - Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto RicoY Anikster
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Nat Genet 28:376-80. 2001..We also present an allele-specific assay for diagnosing individuals heterozygous or homozygous for this mutation... - CTNS mutations in patients with cystinosisY Anikster
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892 1830, USA
Hum Mutat 14:454-8. 1999..In general, only certain splicing or missense mutations are associated with milder cystinosis phenotypes. Hum Mutat 14:454-458, 1999. Published 1999 Wiley-Liss, Inc... - Oral carnitine therapy in children with cystinosis and renal Fanconi syndromeW A Gahl
Section of Human Biochemical Genetics, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
J Clin Invest 81:549-60. 1988..However, its efficacy in restoring muscle carnitine to normal, and the optimal dosage regimen, have yet to be determined... - Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi JewsY Anikster
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
Am J Hum Genet 69:1218-24. 2001..Milder mutations in OPA3 should be sought in patients with optic atrophy with later onset, even in the absence of additional neurological abnormalities... - Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromesM Huizing
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
Curr Mol Med 2:451-67. 2002..Mouse and Drosophila models provide candidates for new genes causing HPS in humans. These genes will reveal the pathways by which specialized vesicles of lysosomal lineage arise within cells... - Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlationsV Shotelersuk
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Mol Genet Metab 64:99-107. 1998..To date, all mutations in HPS result in a truncated protein, suggesting that the C-terminal portion of the HPS protein is functionally important... - Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)Y Anikster
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Mol Genet Metab 66:111-6. 1999..The addition of D17S829 primers (266 bp apart) to the PCR created a multiplex PCR system useful for diagnosing cystinosis patients homozygous and heterozygous for the 65-kb deletion... - Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6M Huizing
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
J Med Genet 46:803-10. 2009..Of the eight human HPS subtypes, only subtypes 1 through 5 are well described... - Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locusM Huizing
Section on Human Biochemical Genetics, Heritable Disorders Branch, Bethesda, Maryland 20892 1830, USA
Mol Genet Metab 74:217-25. 2001..Furthermore, subtle gray exhibits a normal contingent of platelet dense bodies. Together, these data eliminate subtle gray as a murine model for HPS-3 disease and suggest that other mouse models be examined... - Characterization of lysosomal monoiodotyrosine transport in rat thyroid cells. Evidence for transport by system hH C Andersson
Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
J Biol Chem 265:10950-4. 1990..It appears that a single system effects the transport of iodinated (e.g. monoiodotyrosine) and noniodinated (e.g. tyrosine) thyroglobulin catabolites into the cytosol for salvage and reutilization by FRTL-5 thyroid cells... - Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCRA E Griffin
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Clin Genet 68:23-30. 2005.... - Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and traffickingM Huizing
Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1830, USA
Thromb Haemost 86:233-45. 2001..These diseases and their variants mirror a group of mouse hypopigmentation mutants. The gene productsinvolved will reveal how the melanosome, platelet dense body, and lysosome are formed and trafficked within cells... - Hermansky-Pudlak syndrome: models for intracellular vesicle formationV Shotelersuk
Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland, 20892, USA
Mol Genet Metab 65:85-96. 1998..Studies of the proteins involved in intercompartmental transport for melanosomes, platelet-dense bodies, and lysosomes should lead to a better understanding of the mechanisms of organellogenesis and to more effective therapies for HPS... - Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detectionM Huizing
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Hum Genet 106:370-3. 2000..g., exons 2-5) for mutation detection might lead to false positives for mutations, if the cDNA is contaminated with gDNA. This calls for caution when employing these screening approaches... - Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33M Huizing
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD 20892, USA
Gene 264:241-7. 2001..This initial molecular description of these four genes is an important step towards their evaluation as candidate genes that may be involved in the pathogenesis of Hermansky-Pudlak syndrome-related diseases... - Craniofacial and dental findings in cystinosisC W Bassim
National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
Oral Dis 16:488-95. 2010..The objective of this study was to provide the first systematic assessment of the craniofacial and dental characteristics associated with cystinosis... 
Novel mutations in the HPS1 gene among Puerto Rican patientsC Carmona-Rivera
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Clin Genet 79:561-7. 2011..M325WfsX6). These findings indicate that, among Puerto Ricans, other HPS1 mutations apart from the 16-bp duplication should be considered in the analysis of this population...- Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 geneE C Dell'Angelica
Cell Biology and Metabolism Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
J Biol Chem 275:1300-6. 2000.... - CTNS mutations in an American-based population of cystinosis patientsV Shotelersuk
Section of Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
Am J Hum Genet 63:1352-62. 1998..These data demonstrate the origins of CTNS mutations in America and provide a basis for possible molecular diagnosis in this population... - The α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndromeD M Maynard
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
J Thromb Haemost 8:1786-96. 2010..For disorders such as gray platelet syndrome (GPS), in which thrombocytopenia, enlarged platelets and a paucity of α-granules are observed, only the clinical and histologic states have been defined... - High-performance liquid chromatography of lipids for the identification of human metabolic diseaseT C Markello
Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
Anal Biochem 198:368-74. 1991..This system provides a tool for detecting lipids that accumulate in tissues of patients with currently unidentified metabolic storage disorders... - Photoaffinity labeling of lysosomal membrane proteins with [125I]diiodotyrosine, a system h ligandH C Andersson
Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Biochem Mol Med 55:71-3. 1995..The 70-kDa protein may represent some portion of the system h carrier protein... - Glyceryl triacetate for Canavan disease: a low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat modelC N Madhavarao
Department of Anatomy, Physiology and Genetics, Program in Neuroscience and Program in Molecular and Cell Biology, USUHS, 4301 Jones Bridge Road, Bethesda, MD, 20814, USA
J Inherit Metab Dis 32:640-50. 2009..Lack of GTA toxicity in two CD patients in low-dose trials, as well as in high-dose animal studies, suggests that higher, effective dose studies in human CD patients are warranted... - Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locusS G Kaler
Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
Nat Genet 8:195-202. 1994..In both mutations, maintenance of some normal splicing is demonstrable by RT-PCR, cDNA sequencing and ribonuclease protection... - Chemical individuality: concept and outlookW A Gahl
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Besthesda, Maryland, USA
J Inherit Metab Dis 31:630-40. 2008..Just as Garrod predicted that the future of biochemical genetics would be intertwined with the concept of chemical variability, we might forecast that variation will influence emotions, dreams, and the human thinking process itself... - Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypesD L Domingo
Clinical Research Core, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
Oral Dis 15:187-95. 2009..Craniofacial features include 'bird-like' facies, alopecia, craniofacial disproportion, and dental crowding. Our prospective study describes dental, oral soft tissue, and craniofacial bone features in HGPS... - Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptorE C Dell'Angelica
Cell Biology and Metabolism Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Mol Cell 3:11-21. 1999..Our results suggest that AP-3 functions in protein sorting to lysosomes and provide an example of a human disease in which altered trafficking of integral membrane proteins is due to mutations in a component of the sorting machinery... - The metabolism of fatty acids in human Bietti crystalline dystrophyJ Lee
Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, National Institutes of Health, 10 Center Drive MSC 1860, Bethesda, MD 20892, USA
Invest Ophthalmol Vis Sci 42:1707-14. 2001..These findings raise the possibility that abnormal lipid metabolism associated with BCD is the result of deficient lipid binding, elongation, or desaturation in contrast to the lysosomal acid lipase deficiency found in Wolman disease... - MRI findings and peripheral neuropathy in Lowe's syndromeL Charnas
Section of Human Biochemical Genetics, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
Neuropediatrics 19:7-9. 1988..We conclude that both a peripheral axonopathy and a central demyelinating or gliotic process occurs in oculocerebrorenal syndrome in the absence of the severe renal disease that often complicates this disorder... - Proteomic analysis of platelet alpha-granules using mass spectrometryD M Maynard
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892 1851, USA
J Thromb Haemost 5:1945-55. 2007..This article represents the first effort to define the platelet alpha-granule proteome using mass spectrometry (MS)... - Clinical, molecular, and cell biological aspects of Chediak-Higashi syndromeW Introne
Heritable Disorders Branch, National Institutes of Health, Bethesda, Maryland
Mol Genet Metab 68:283-303. 1999..Lyst and LYST show 86.5% sequence homology. LYST encodes a 429 kDa protein with a function that remains unknown, but the source of extensive speculation among students of cell biology... - A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medicationM Arcos-Burgos
National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA
Mol Psychiatry 15:1053-66. 2010..Linkage and replicated association of ADHD with a novel non-candidate gene (LPHN3) provide new insights into the genetics, neurobiology, and treatment of ADHD... - RAB GTPases expressed in human melanoma cellsD Chen
Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
Biochim Biophys Acta 1355:1-6. 1997.... - Identification of the metabolic defect in sialuriaP Weiss
National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892
J Biol Chem 264:17635-6. 1989.... - Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzymeR Seppala
1Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
Am J Hum Genet 64:1563-9. 1999..The heterozygous nature of the mutant allele in all three patients reveals a dominant mechanism of inheritance for sialuria... - Clinical and biochemical studies in an American child with sialuriaD M Krasnewich
Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
Biochem Med Metab Biol 49:90-6. 1993..The intracellular pH of sialuria fibroblasts, 7.18 +/- 0.04, was not found to be significantly different from that of normal cells (7.19 +/- 0.08)... - Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytesW A Gahl
Section on Human Biochemical Genetics, Human Genetics Branch, NICHD, NIH, Bethesda, Maryland 20892 1830, USA
Pigment Cell Res 8:229-33. 1995..These data indicate that a tyrosine transport system exists in the melanosomal membrane and that the p gene does not encode a tyrosine transporter of critical importance... - Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1S H Hahn
Section of Human Biochemical Genetics, Human Genetics Branch, NICHD, NIH, Bethesda, Maryland 20892, USA
Hum Mutat 6:66-73. 1995..The chronic phenotype of tyrosinemia type 1 in this patient may be due to some residual, correct splicing by the allele with the splicing mutation... - Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and plateletsD Chen
Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Biochem Mol Med 60:27-37. 1997....