Michael Harris-Love

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Optic atrophies in metabolic disorders
    Marjan Huizing
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Mol Genet Metab 86:51-60. 2005
  2. pmc Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin
    Amanda Helip-Wooley
    Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
    BMC Cell Biol 6:33. 2005
  3. ncbi request reprint Hermansky-Pudlak syndrome: vesicle formation from yeast to man
    Marjan Huizing
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1851, USA
    Pigment Cell Res 15:405-19. 2002
  4. pmc OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria
    Marjan Huizing
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 100:149-54. 2010
  5. pmc Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics
    Marjan Huizing
    Cell Biology of Metabolic Disorders Unit, National Institutes of Health, Bethesda, Maryland 20892, USA
    Annu Rev Genomics Hum Genet 9:359-86. 2008
  6. pmc Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6
    M 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
  7. ncbi request reprint Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome
    Marjan 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
  8. ncbi request reprint Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5
    Marjan Huizing
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
    Traffic 5:711-22. 2004
  9. pmc Allele-specific silencing of the dominant disease allele in sialuria by RNA interference
    Riko D Klootwijk
    Medical Genetics Branch, NHGRI, NIH, 10 Center Dr, MSC 1851, Bethesda, MD 20892, USA
    FASEB J 22:3846-52. 2008
  10. ncbi request reprint Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes
    M 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

Detail Information

Publications72

  1. ncbi request reprint Optic atrophies in metabolic disorders
    Marjan Huizing
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Mol Genet Metab 86:51-60. 2005
    ..For many metabolic disorders, molecular testing is available...
  2. pmc Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin
    Amanda 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...
  3. ncbi request reprint Hermansky-Pudlak syndrome: vesicle formation from yeast to man
    Marjan Huizing
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1851, USA
    Pigment Cell Res 15:405-19. 2002
    ..Pursuit of the mechanism of mammalian vesicle formation and trafficking, impaired in HPS, relies upon investigation of these mouse models as well as studies of protein complexes involved in yeast vacuole formation...
  4. pmc OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria
    Marjan Huizing
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 100:149-54. 2010
    ..These findings thus place the cellular metabolic defect of 3-MGCA type III in the mitochondrion rather than the peroxisome and implicate loss of OPA3A rather than gain of OPA3B in disease etiology...
  5. pmc Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics
    Marjan 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...
  6. pmc Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6
    M 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...
  7. ncbi request reprint Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome
    Marjan 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...
  8. ncbi request reprint Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5
    Marjan 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...
  9. pmc Allele-specific silencing of the dominant disease allele in sialuria by RNA interference
    Riko D Klootwijk
    Medical Genetics Branch, NHGRI, NIH, 10 Center Dr, MSC 1851, Bethesda, MD 20892, USA
    FASEB J 22:3846-52. 2008
    ..These findings indicate that allele-specific silencing of a mutated allele is a viable therapeutic strategy for autosomal dominant diseases, including sialuria...
  10. ncbi request reprint Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes
    M 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...
  11. pmc Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency
    M 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...
  12. ncbi request reprint CTNS mutations in African American patients with cystinosis
    R 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...
  13. ncbi request reprint Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations
    Y 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...
  14. ncbi request reprint Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
    Y 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...
  15. pmc 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 region
    C 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...
  16. ncbi request reprint Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR
    A 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
    ....
  17. doi request reprint Novel mutations in the HPS1 gene among Puerto Rican patients
    C 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...
  18. ncbi request reprint Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus
    M 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...
  19. ncbi request reprint Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33
    M 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...
  20. ncbi request reprint Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2
    Marjan Huizing
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
    Pediatr Res 51:150-8. 2002
    ..Our findings expand the molecular, cellular, and clinical spectrum of HPS-2 and call for an increased index of suspicion for this diagnosis among patients with features of albinism, bleeding, and neutropenia...
  21. ncbi request reprint Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking
    M 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...
  22. pmc AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes
    M 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...
  23. ncbi request reprint Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection
    M 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...
  24. ncbi request reprint Molecular defects that affect platelet dense granules
    Meral Gunay-Aygun
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Semin Thromb Hemost 30:537-47. 2004
    ..The gene products involved in these disorders help elucidate the generalized process of the formation of vesicles from extant membranes such as the Golgi...
  25. ncbi request reprint Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children
    Robert Kleta
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, Building 10 Room 10C 103, Bethesda, MD 20892 1851, USA
    Am J Med Genet A 120:28-33. 2003
    ..These observations emphasize the importance of considering free sialic acid disorders in infants with developmental delays and growth retardation, regardless of whether they are of Finnish ancestry...
  26. pmc A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3
    Wuhong Pei
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Development 137:2587-96. 2010
    ..In summary, this paper introduces a faithful Costeff Syndrome model and demonstrates a requirement for mitochondrial OPA3 to limit HMG-CoA-derived MGC and protect the electron transport chain against inhibitory compounds...
  27. ncbi request reprint Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases
    Christina R Hermos
    Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892 1851, USA
    Hum Mutat 20:482. 2002
    ..These complications are common among Puerto Rican HPS-1 patients but have not appeared in HPS-2 or HPS-3 patients. The diagnosis of HPS-1, available only on molecular grounds, has important prognostic and treatment implications...
  28. ncbi request reprint Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics
    Paul D Anderson
    Medical Genetics Branch, MSC 1851, Building 10, Room 10C 103, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892 1851, USA
    Hum Genet 113:10-7. 2003
    ....
  29. pmc Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype
    C Bendavid
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3717, Building 35, Room 1B 203, Bethesda, MD 20892 3717, USA
    J Med Genet 43:496-500. 2006
    ..Based on our data, microdeletion testing should be considered as part of an evaluation of holoprosencephaly, especially in severe HPE cases...
  30. pmc Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p
    Meral Gunay-Aygun
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Blood 116:4990-5001. 2010
    ..This study is registered at www.clinicaltrials.gov as NCT00069680 and NCT00369421...
  31. pmc Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine
    Belinda Galeano
    Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 208921851, USA
    J Clin Invest 117:1585-94. 2007
    ..The results also support evaluation of ManNAc as a treatment not only for HIBM but also for renal disorders involving proteinuria and hematuria due to podocytopathy and/or segmental splitting of the glomerular basement membrane...
  32. ncbi request reprint Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5
    Amanda 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...
  33. pmc Analysis of ocular hypopigmentation in Rab38cht/cht mice
    Brian P Brooks
    National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 48:3905-13. 2007
    ..To characterize the ocular phenotype resulting from mutation of Rab38, a candidate gene for Hermansky-Pudlak syndrome...
  34. pmc Hermansky-Pudlak syndrome in two African-American brothers
    Melissa A Merideth
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
    Am J Med Genet A 149:987-92. 2009
    ..A history of easy bruising or evidence of a bleeding disorder, combined with some degree of hypopigmentation, should prompt investigation into the diagnosis of HPS...
  35. ncbi request reprint Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1
    Ekaterini T Tsilou
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ophthalmology 111:1599-603. 2004
    ..To compare clinically 2 different subtypes of Hermansky-Pudlak syndrome (HPS), type 1 (HPS-1) and type 3 (HPS-3)...
  36. pmc Hermansky-Pudlak syndrome type 1 in patients of Indian descent
    Lisa M Vincent
    Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bldg 10, Rm 10C107, MSC1851, Bethesda, MD 20892 1851, USA
    Mol Genet Metab 97:227-33. 2009
    ..398+5G>A and c.980-1G>T, to ensure that patients can be monitored and treated for clinical complications unique to HPS...
  37. pmc MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome
    Meral Gunay-Aygun
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    J Pediatr 155:386-92.e1. 2009
    ..To describe 3 children with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS)...
  38. ncbi request reprint Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations
    Marjan Huizing
    Medical Genetics Branch, National Human Genome Research Institute NIH, Bethesda, MD, USA
    Mol Genet Metab 81:196-202. 2004
    ..These findings resemble those found for other congenital muscular dystrophies, suggesting that HIBM may be a "dystroglycanopathy," and providing an explanation for the muscle weakness of patients with GNE mutations...
  39. pmc Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria
    Thierry Vilboux
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 30:1611-9. 2009
    ..This study provides valuable resources for molecular analysis of alkaptonuria and expands our knowledge of the molecular basis of this disease...
  40. pmc PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis
    Meral Gunay-Aygun
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Mol Genet Metab 99:160-73. 2010
    ..In the meantime, use of PKHD1 sequencing data for clinical decisions requires caution, especially when only novel or rare missense variants are identified...
  41. pmc Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1
    Irini Manoli
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    Am J Med Genet A 152:1474-83. 2010
    ..Unmasking of a separate autosomal recessive cause of developmental delay, or an additive effect of the paternal heterodisomy, could underlie the severity of the phenotype in this patient...
  42. ncbi request reprint Eye movement abnormalities in hermansky-pudlak syndrome
    Libe Gradstein
    Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA
    J AAPOS 9:369-78. 2005
    ..Although it is known that patients with HPS exhibit nystagmus, the nature of these abnormal eye movements has not been studied...
  43. ncbi request reprint 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...
  44. ncbi request reprint Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy
    Susan E Sparks
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Glycobiology 15:1102-10. 2005
    ..This cell-free approach can be applied to other glycosylation pathway enzymes that are difficult to evaluate in whole cells because their substrate specificities overlap with those of ancillary enzymes...
  45. pmc Hereditary inclusion body myopathy: a decade of progress
    Marjan Huizing
    Cell Biology of Metabolic Disorders Unit, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Biochim Biophys Acta 1792:881-7. 2009
    ..Recent advances in therapeutic approaches for HIBM, including administration of N-acetyl-mannosamine (ManNAc), a precursor of Neu5Ac will be discussed...
  46. ncbi request reprint Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy
    Emily Gottlieb
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD, USA
    Mol Genet Metab 86:244-9. 2005
    ..These data are valuable for future studies on the role of DAG1 in HIBM and other muscular dystrophies, especially those dystrophies that involve abnormal glycosylation of dystroglycan...
  47. ncbi request reprint Use of a cDNA microarray to determine molecular mechanisms involved in grey platelet syndrome
    Tehila Hyman
    Laboratory of Cellular Carcinogenesis and Tumor Promotion, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Br J Haematol 122:142-9. 2003
    ....
  48. ncbi request reprint Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype
    Nadeem Hussain
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
    Clin Gastroenterol Hepatol 4:73-80. 2006
    ..This study aimed to document the occurrence of colitis among HPS patients, characterize gastrointestinal tract involvement in HPS, and analyze the distribution of colitis among HPS genotypes...
  49. pmc Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study
    Susan Sparks
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Neurol 7:3. 2007
    ..Reduced sialylation of muscle glycoproteins, such as alpha-dystroglycan and neural cell adhesion molecule (NCAM), has been reported in HIBM...
  50. pmc Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A
    Yair Anikster
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Building 10, 10 Center Drive, Bethesda, MD 20892 1830, USA
    Am J Hum Genet 71:407-14. 2002
    ....
  51. pmc Clinical features of spinal and bulbar muscular atrophy
    Lindsay E Rhodes
    Neurogenetics Branch, NINDS, NIH, Bethesda, MD, USA
    Brain 132:3242-51. 2009
    ....
  52. ncbi request reprint Defining Clinical Improvement in Adult and Juvenile Myositis
    Lisa G Rider
    Enviromental Autoimmunity Group, National Institute of Enviromental Health Sciences, National Institutes of Health, Bethesda, MD 20892, USA
    J Rheumatol 30:603-17. 2003
    ..This workshop is the first of several planned to develop multidisciplinary, international consensus on the conduct and reporting of IIM clinical trials...
  53. pmc Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1
    Farshid 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...
  54. pmc Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting
    Horia 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...
  55. ncbi request reprint Natural history of alkaptonuria
    Chanika Phornphutkul
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892 1851, USA
    N Engl J Med 347:2111-21. 2002
    ..There is no effective therapy for this disorder, although nitisinone inhibits the enzyme that produces HGA. We performed a study to delineate the natural history of alkaptonuria...
  56. ncbi request reprint Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies
    Nilo A Avila
    Department of Diagnostic Radiology, Warren G Magnuson Clinical Center, National Institutes of Health, Bldg 10, Rm 1C 660, 10 Center Dr, MSC 1182, Bethesda, MD 20892 1182, USA
    AJR Am J Roentgenol 179:887-92. 2002
    ..The objective of our study was to describe the chest radiographic and high-resolution CT findings in patients with Hermansky-Pudlak syndrome and to correlate the radiologic findings with age, causative gene, and pulmonary function...
  57. ncbi request reprint Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs
    Rick A Martin
    Division of Medical Genetics, Department of Pediatrics, St Louis Children s Hospital, Washington University, St Louis, MO 63110, USA
    Am J Med Genet A 120:23-7. 2003
    ..Salla disease is rare outside of individuals of Finnish ancestry. In this report we describe the disorder in non-Finnish monozygous twin siblings, the first reported American cases of Salla disease...
  58. ncbi request reprint Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)
    Steven L Ciciotte
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Blood 101:4402-7. 2003
    ....
  59. ncbi request reprint Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis
    Esther B Bachli
    Department of Medicine, University Hospital Zurich, Raemistrasse 100, 8091 Zurich, Switzerland
    Am J Med Genet A 127:201-7. 2004
    ..We conclude that pulmonary fibrosis occurs as part of HPS-4 and that HPS should be considered in all ethnic groups...
  60. pmc An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome
    Ramin 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
    ....
  61. ncbi request reprint Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex
    Babette 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...
  62. ncbi request reprint A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics
    Nira 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...
  63. pmc The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules
    Sreenivasulu Chintala
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    Blood 109:1533-40. 2007
    ..Unlike HPS or CHS genes, it has no apparent effect on other lysosome-related organelles such as melanosomes or lysosomes. The ash-Roswell mouse mutant is an appropriate model for human congenital-isolated delta-storage pool deficiency...
  64. ncbi request reprint Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype
    Wendy Westbroek
    J Invest Dermatol 127:2674-7. 2007
  65. pmc Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells
    Sreenivasulu Chintala
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
    Proc Natl Acad Sci U S A 102:10964-9. 2005
    ..Thus, we have found that the Slc7a11 gene controls the production of pheomelanin pigment directly. Cells from sut mice provide a model for oxidative stress-related diseases and their therapies...
  66. pmc Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking
    Bonnie Richmond
    Department of Dermatology, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267, USA
    J Invest Dermatol 124:420-7. 2005
    ..These data demonstrate that the three initially identified subtypes of human HPS exhibit distinct defects in the trafficking of various melanocyte-specific proteins...
  67. pmc Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3
    Raymond 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...
  68. ncbi request reprint Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts
    Wendy Westbroek
    Department of Dermatology, Ghent University Hospital, De Pintelaan 185, Gent, Belgium
    Pigment Cell Res 17:498-505. 2004
    ..Our data suggest that up-regulated Rab27b in melanocytes of the Griscelli patient can partially take over the function of Rab27a, which could explain the fact that this patient had an evenly pigmented skin and was able to tan...
  69. doi request reprint A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5
    Lindy Anne Korswagen
    Department of Haematology, VU University Medical Centre, Amsterdam, The Netherlands
    Eur J Haematol 80:356-60. 2008
    ..In humans eight different types of the syndrome are known, of which a short overview is given. The clinical features and a novel mutation of a patient with HPS type 5 are described here...
  70. ncbi request reprint Rab7 and Rab27a control two motor protein activities involved in melanosomal transport
    Ingrid Jordens
    Department of Tumour Biology, The Netherlands Cancer Institute, Amsterdam, The Netherlands
    Pigment Cell Res 19:412-23. 2006
    ....
  71. ncbi request reprint Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy
    Paul J M Savelkoul
    Mol Genet Metab 88:389-90. 2006
  72. ncbi request reprint Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome
    Antoine De Leusse
    Service d Hepato Gastroenterologie, Hopital Europeen Georges Pompidou, Paris
    Gastroenterol Clin Biol 30:621-4. 2006
    ..Search for mutations in HPS1, ADTB3A, HPS3, HPS4 and for CARD15 were negative. Symptoms and ileal ulcerations which recurred after surgery were successfully treated with azathioprine and infliximab...