hermanski pudlak syndrome


Summary: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.

Top Publications

  1. Stinchcombe J, Barral D, Mules E, Booth S, Hume A, Machesky L, et al. Rab27a is required for regulated secretion in cytotoxic T lymphocytes. J Cell Biol. 2001;152:825-34 pubmed
    ..These results demonstrate that Rab27a is required in a final secretory step and that other Rab proteins also affected in gunmetal are likely to be involved in polarization of the granules to the immunological synapse...
  2. Hume A, Collinson L, Rapak A, Gomes A, Hopkins C, Seabra M. Rab27a regulates the peripheral distribution of melanosomes in melanocytes. J Cell Biol. 2001;152:795-808 pubmed
  3. Clark R, Griffiths G. Lytic granules, secretory lysosomes and disease. Curr Opin Immunol. 2003;15:516-21 pubmed
    ..However, studies of this disease reveal differences between the various different types of secretory lysosomes, including lytic granules...
  4. Clark R, Stinchcombe J, Day A, Blott E, Booth S, Bossi G, et al. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat Immunol. 2003;4:1111-20 pubmed
    ..These data show that AP-3 is essential for polarized secretion from CTLs...
  5. Guttentag S, Akhtar A, Tao J, Atochina E, Rusiniak M, Swank R, et al. Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome. Am J Respir Cell Mol Biol. 2005;33:14-21 pubmed
    ..Together, our data indicate that GLB formation is not associated with abnormal trafficking or recycling of surfactant material. Instead, impaired secretion is an important component of GLB formation in ep/pe mice...
  6. Bonifacino J. Insights into the biogenesis of lysosome-related organelles from the study of the Hermansky-Pudlak syndrome. Ann N Y Acad Sci. 2004;1038:103-14 pubmed
    ..Further studies of these complexes should contribute to the elucidation of the mechanisms of LRO biogenesis and the pathogenesis of HPS...
  7. Kantheti P, Diaz M, Peden A, Seong E, Dolan D, Robinson M, et al. Genetic and phenotypic analysis of the mouse mutant mh2J, an Ap3d allele caused by IAP element insertion. Mamm Genome. 2003;14:157-67 pubmed
  8. Lyerla T, Rusiniak M, Borchers M, Jahreis G, Tan J, Ohtake P, et al. Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome. Am J Physiol Lung Cell Mol Physiol. 2003;285:L643-53 pubmed
    ..These mutant mice provide a model to further investigate the lung pathology and therapy of HPS. We hypothesize that abnormal type II cell lamellar body structure/function may predict future lung pathology in HPS...
  9. Li W, Rusiniak M, Chintala S, Gautam R, Novak E, Swank R. Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. Bioessays. 2004;26:616-28 pubmed
    ..Studies of the molecular functions of HPS proteins will reveal important details of vesicle trafficking and may lead to therapies for HPS...

More Information

Publications101 found, 100 shown here

  1. Dell Angelica E. The building BLOC(k)s of lysosomes and related organelles. Curr Opin Cell Biol. 2004;16:458-64 pubmed
    ..These findings provide a framework for studies on the function of these proteins and the pathogenesis of Hermansky-Pudlak syndrome...
  2. Bossi G, Booth S, Clark R, Davis E, Liesner R, Richards K, et al. Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV. Traffic. 2005;6:243-51 pubmed
    ..These results reveal differences in the protein machinery required for biogenesis and/or secretion of lysosome-related organelles in CTL and melanocytes...
  3. Fontana S, Parolini S, Vermi W, Booth S, Gallo F, Donini M, et al. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood. 2006;107:4857-64 pubmed
    ..Taken together, these observations suggest that type 2 Hermansky-Pudlak syndrome is characterized by defects of innate immunity...
  4. Gautam R, Novak E, Tan J, Wakamatsu K, Ito S, Swank R. Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles. Traffic. 2006;7:779-92 pubmed
    ..Double and triple mutant HPS mice provide unique and practical experimental advantages in the study of LROs...
  5. Huizing M, Gahl W. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Curr Mol Med. 2002;2:451-67 pubmed
    ..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. ..
  6. Pierson D, Ionescu D, Qing G, Yonan A, Parkinson K, Colby T, et al. Pulmonary fibrosis in hermansky-pudlak syndrome. a case report and review. Respiration. 2006;73:382-95 pubmed
    ..To date, there has been one successful lung transplant performed on a patient with HPS. We present a patient with HPS and review the current literature on our understanding of this rare disorder. ..
  7. Zamora A, Alonso Martínez D, Barrera L, Mendoza F, Gaxiola M, Carrillo G. [Familial pulmonary fibrosis in 2 Mexican sisters with Hermansky-Pudlak syndrome]. Arch Bronconeumol. 2009;45:408-10 pubmed publisher
    ..Pulmonary fibrosis was biopsy-proven in 1 of the patients. This report shows that Hermansky-Pudlak syndrome may occur in individuals of Mexican ancestry. ..
  8. Westmoreland D, Shaw M, Grimes W, Metcalf D, Burden J, Gomez K, et al. Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders. J Thromb Haemost. 2016;14:839-49 pubmed publisher
    ..CD63 is a useful marker for predicting Hermansky-Pudlak syndrome and could be used in the diagnosis of patients suspected of other platelet granule disorders. ..
  9. Maurer Spurej E, Dyker K, Gahl W, Devine D. A novel immunocytochemical assay for the detection of serotonin in platelets. Br J Haematol. 2002;116:604-11 pubmed
    ..The new assay was also reliable in cases where the 5-HT content of dense granules was not correlated with the calcium or ATP content, such as in calcium deficiency or in the presence of selective serotonin reuptake inhibitors. ..
  10. Mahanty S, Ravichandran K, Chitirala P, Prabha J, Jani R, Setty S. Rab9A is required for delivery of cargo from recycling endosomes to melanosomes. Pigment Cell Melanoma Res. 2016;29:43-59 pubmed publisher
    ..This result indicates a defect in directing recycling endosomal tubules to melanosomes. Thus, Rab9A and its co-regulatory GTPases control STX13-mediated cargo delivery to maturing melanosomes. ..
  11. Osanai K, Nakase K, Sakuma T, Nishiki K, Nojiri M, Kato R, et al. Exogenous gene transfer of Rab38 small GTPase ameliorates aberrant lung surfactant homeostasis in Ruby rats. Respir Res. 2017;18:70 pubmed publisher
  12. Corral J, Gonzalez Conejero R, Pujol Moix N, Domenech P, Vicente V. Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency. Haematologica. 2004;89:325-9 pubmed
    ..Mutations affecting the HPS1 gene play a minor role in isolated PDG deficiency. These results support a molecular heterogeneity responsible for the number and morphology of PDG. ..
  13. Graham G, Ren Q, Dilks J, Blair P, Whiteheart S, Flaumenhaft R. Endobrevin/VAMP-8-dependent dense granule release mediates thrombus formation in vivo. Blood. 2009;114:1083-90 pubmed publisher
    ..These results demonstrate the importance of dense granule release even in the earliest phases of thrombus formation and validate the distal platelet secretory machinery as a potential target for antiplatelet therapies. ..
  14. Ma J, Zhang Z, Yang L, Kriston Vizi J, Cutler D, Li W. BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells. J Genet Genomics. 2016;43:686-693 pubmed publisher
    ..The differentially defective regulated release of VWF in these HPS mouse models suggests the need for precise HPS genotyping before DDAVP administration to HPS patients. ..
  15. Sarangarajan R, Budev A, Zhao Y, Gahl W, Boissy R. Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak Syndrome and in melanoma cells transfected with anti-sense HPS1 cDNA. J Invest Dermatol. 2001;117:641-6 pubmed
    ..We conclude that lack of HPS1 protein expression results in mistranslocation of tyrosinase and tyrosinase-related protein 1 to large granular complexes rather than melanosomes, compromising melanin synthesis. ..
  16. Rodriguez J, Blasini M, Townsend W, Izquierdo N. Color vision in patients with the Hermansky-Pudlak syndrome. Bol Asoc Med P R. 2004;96:84-90 pubmed
    ..The prevalence of color vision deficits in our study population increased with decreasing visual acuity. ..
  17. Griffin A, Cobb B, Anderson P, Claassen D, Helip Wooley A, Huizing M, et al. Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR. Clin Genet. 2005;68:23-30 pubmed
  18. Falcon Perez J, Romero Calderon R, Brooks E, Krantz D, Dell Angelica E. The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). Traffic. 2007;8:154-68 pubmed
    ..The phenotype of pink mutants was exacerbated by mutations in AP-3 subunits or in the orthologs of VPS33A and Rab38. These results validate D. melanogaster as a genetic model to study the function of the BLOCs. ..
  19. Smith J, Koshoffer A, Morris R, Boissy R. Membranous complexes characteristic of melanocytes derived from patients with Hermansky-Pudlak syndrome type 1 are macroautophagosomal entities of the lysosomal compartment. Pigment Cell Res. 2005;18:417-26 pubmed
    ..These results confirm that membranous complexes of HPS-1 melanocytes are macroautophagosomal representatives of the lysosomal compartment. ..
  20. Wax J, Rosengren S, Spector E, Gainey A, Ingardia C. DNA diagnosis and management of Hermansky-Pudlak syndrome in pregnancy. Am J Perinatol. 2001;18:159-61 pubmed
    ..Women of northwestern Puerto Rican descent with OCA should be offered testing for HPS. Identification of affected individuals may permit optimal obstetric management. ..
  21. Brooks B, Larson D, Chan C, Kjellstrom S, Smith R, Crawford M, et al. Analysis of ocular hypopigmentation in Rab38cht/cht mice. Invest Ophthalmol Vis Sci. 2007;48:3905-13 pubmed
    ..This mouse line provides a useful model for studying melanosome biology and its role in human ocular diseases. ..
  22. Kook S, Qi A, Wang P, Meng S, Gulleman P, Young L, et al. Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes. Am J Respir Cell Mol Biol. 2018;58:566-574 pubmed publisher
  23. Garcia C, Raghu G. Inherited interstitial lung disease. Clin Chest Med. 2004;25:421-33, v pubmed
    ..The reader is directed to recent reviews on human genetic predisposition of sarcoidosis, environmental-related, drug-related, connective tissue related pulmonary fibrosis, and genetic predisposition of fibrosis in animal models. ..
  24. de Voer G, Peters D, Taschner P. Caenorhabditis elegans as a model for lysosomal storage disorders. Biochim Biophys Acta. 2008;1782:433-46 pubmed publisher
    ..Screens for genes involved in lysosomal biogenesis and function have been performed successfully resulting in the cup and glo mutants, but screens involving subtle phenotypes are likely to be difficult. ..
  25. Anikster Y, Huizing M, White J, Shevchenko Y, Fitzpatrick D, Touchman J, et al. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet. 2001;28:376-80 pubmed
    ..We also present an allele-specific assay for diagnosing individuals heterozygous or homozygous for this mutation. ..
  26. Wang L, Lyerla T. Histochemical and cellular changes accompanying the appearance of lung fibrosis in an experimental mouse model for Hermansky Pudlak syndrome. Histochem Cell Biol. 2010;134:205-13 pubmed publisher
    ..With prominent prefibrotic abnormalities, this double mutant may serve as a model for interventive therapy in HPS...
  27. Li Y, Geng X, Bao L, Elaswad A, Huggins K, Dunham R, et al. A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. Mol Genet Genomics. 2017;292:663-670 pubmed publisher
    ..This deletion led to the skipping of the entire exon 3 which was confirmed by RT-PCR. Therefore, Hps4 was determined to be the candidate gene of the catfish albinism. ..
  28. Li W, Zhang Q, Oiso N, Novak E, Gautam R, O Brien E, et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003;35:84-9 pubmed
  29. Dai C, Li W, Gao B, Li L, Lu G. [Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008;25:373-7 pubmed
    ..The heterozygous mutation T450M is a novel mutation. Gene diagnosis of OCA can be carried out effectively by combining PCR, DHPLC, DNA sequencing and restriction endonuclease analysis. ..
  30. Badolato R, Parolini S. Novel insights from adaptor protein 3 complex deficiency. J Allergy Clin Immunol. 2007;120:735-41; quiz 742-3 pubmed
    ..It is likely that the investigation of the physiopathology of Hermansky-Pudlak type 2 syndrome will reveal nonredundant functions of this adaptor protein in the intracellular trafficking of membrane proteins. ..
  31. Boissy R, Richmond B, Huizing M, Helip Wooley A, Zhao Y, Koshoffer A, et al. Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Am J Pathol. 2005;166:231-40 pubmed
    ..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. ..
  32. Andres O, Wiegering V, König E, Schneider A, Semeniak D, Stritt S, et al. A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. Pediatr Blood Cancer. 2017;64: pubmed publisher
    ..In future, a valid genotype-phenotype correlation may translate into best supportive care, especially regarding elective surgery or trauma management. ..
  33. Iannello S, Fabbri G, Bosco P, Cavaleri A, Cantarella S, Camuto M, et al. A clinical variant of familial Hermansky-Pudlak syndrome. MedGenMed. 2003;5:3 pubmed
    ..HPS should be carefully tested for in suspected cases to prevent the severe visual impairment, rapidly progressive pulmonary fibrosis, and other complications associated with this disorder. ..
  34. Avila N, Brantly M, Premkumar A, Huizing M, Dwyer A, Gahl W. Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol. 2002;179:887-92 pubmed
    ..High-resolution CT provides a good radiologic monitor of disease status and progression in patients with Hermansky-Pudlak syndrome and correlates well with patient age, extent of pulmonary dysfunction, and genetic findings. ..
  35. Huizing M, Parkes J, Helip Wooley A, White J, Gahl W. Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. Platelets. 2007;18:150-7 pubmed
    ..Thus, it is unlikely that the generalized bleeding diathesis of HPS is attributed to a deficiency of alpha granules. ..
  36. Müller F, Mutch N, Schenk W, Smith S, Esterl L, Spronk H, et al. Platelet polyphosphates are proinflammatory and procoagulant mediators in vivo. Cell. 2009;139:1143-56 pubmed publisher
    ..The data identify polyP as a new class of mediator having fundamental roles in platelet-driven proinflammatory and procoagulant disorders. ..
  37. Torres Serrant M, Ramirez S, Cadilla C, Ramos Valencia G, Santiago Borrero P. Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico. J Pediatr Hematol Oncol. 2010;32:448-53 pubmed publisher
    ..DNA pooling reduces time and labor in newborn screening thus facilitating early diagnosis and treatment of children with HPS-3 and the provision of genetic counseling to parents and relatives. ..
  38. Yoshiyama S, Miki C, Araki T, Morimoto Y, Okita Y, Kusunoki M. Complicated granulomatous colitis in a Japanese patient with Hermansky-Pudlak syndrome, successfully treated with infliximab. Clin J Gastroenterol. 2009;2:51-54 pubmed publisher
    ..The present case is the first report of complicated granulomatous colitis with HPS, which was successfully treated with infliximab in Japan. ..
  39. Nguyen T, Wei M. Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentation. J Invest Dermatol. 2004;122:452-60 pubmed
  40. Young L, Pasula R, Gulleman P, Deutsch G, McCormack F. Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis. Am J Respir Cell Mol Biol. 2007;37:67-74 pubmed
    ..We conclude that the trafficking abnormalities in HPS promote alveolar apoptosis and pulmonary fibrosis in response to bleomycin challenge. ..
  41. Botero J, Chen D, Majerus J, Coon L, He R, Warad D, et al. Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype. Platelets. 2017;:1-4 pubmed publisher
  42. Huizing M, Hess R, Dorward H, Claassen D, Helip Wooley A, Kleta R, et al. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic. 2004;5:711-22 pubmed
    ..This specific intracellular vesicle distribution in fibroblasts, in combination with the clinical features, will improve the characterization of the HPS-5 subtype. ..
  43. Loredana Asztalos M, Schafernak K, Gray J, Berry A, Paller A, Mancini A. Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations. Pediatr Dermatol. 2017;34:638-646 pubmed publisher
    ..We describe two patients with HPS type 1 and review the updated gene-based classification, clinical features, and recommendations for evaluation and follow-up...
  44. Swank R, Novak E, McGarry M, Zhang Y, Li W, Zhang Q, et al. Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome. Pigment Cell Res. 2000;13 Suppl 8:59-67 pubmed
    ..Recent physiological studies have shown that mouse HPS mutants, like their human HPS counterparts, have variably reduced lifespans and may have lung abnormalities...
  45. Perry P, Silverberg N. Cutaneous malignancy in albinism. Cutis. 2001;67:427-30 pubmed
    ..In both cases, hypopigmentation of the lesions contributed to a delay in diagnosis. We review the clinical, diagnostic, and therapeutic concerns for patients with albinism who have cutaneous malignancies...
  46. Sevilla L, Richter S, Miller J. Intracellular transport of MHC class II and associated invariant chain in antigen presenting cells from AP-3-deficient mocha mice. Cell Immunol. 2001;210:143-53 pubmed
    ..The possible role of other known or unknown adaptor complexes in class II-invariant chain transport is discussed...
  47. Zhang Q, Zhao B, Li W, Oiso N, Novak E, Rusiniak M, et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet. 2003;33:145-53 pubmed
    ..Both genes are previously unknown and are found only in higher eukaryotes, and together represent a new class of genes that have evolved in higher organisms to govern the synthesis of highly specialized lysosome-related organelles...
  48. Feliciano N, Rivera E, Agrait E, Rodriguez K. Hermansky-Pudlak syndrome: dental management considerations. J Dent Child (Chic). 2006;73:51-6 pubmed
  49. Zhou M, Gradstein L, Gonzales J, Tsilou E, Gahl W, Chan C. Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult. Arch Ophthalmol. 2006;124:1048-51 pubmed
  50. Salazar G, Zlatic S, Craige B, Peden A, Pohl J, Faundez V. Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells. J Biol Chem. 2009;284:1790-802 pubmed publisher
    ..These results suggest that AP-3 and BLOC-1 act, either in concert or sequentially, to specify sorting of PI4KIIalpha along the endocytic route...
  51. Kloer D, Rojas R, Ivan V, Moriyama K, van Vlijmen T, Murthy N, et al. Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. J Biol Chem. 2010;285:7794-804 pubmed publisher
    ..This interaction is mediated by HPS4 and the switch I and II regions of Rab9. These characteristics indicate that BLOC-3 might function as a Rab9 effector in the biogenesis of LROs...
  52. Krisp A, Hoffman R, Happle R, Konig A, Freyschmidt Paul P. Hermansky-Pudlak syndrome. Eur J Dermatol. 2001;11:372-3 pubmed
    ..The disorder is caused by mutations in the HPS1 gene on chromosome 10q23. The HPS1 gene product is involved in the trafficking of melanosomes, platelet dense bodies, and lysosomes...
  53. Covic L, Singh C, Smith H, Kuliopulos A. Role of the PAR4 thrombin receptor in stabilizing platelet-platelet aggregates as revealed by a patient with Hermansky-Pudlak syndrome. Thromb Haemost. 2002;87:722-7 pubmed
    ..Thus, the strong signal emanating from PAR4 during platelet aggregation would provide an explanation for the mild bleeding diathesis of HPS...
  54. Nguyen T, Novak E, Kermani M, Fluhr J, Peters L, Swank R, et al. Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. J Invest Dermatol. 2002;119:1156-64 pubmed
    ..In contrast, the hypopigmentation seen in the gunmetal strain is due to the retention of melanosomes in melanocytes, and inefficient transfer into keratinocytes...
  55. Suzuki T, Oiso N, Gautam R, Novak E, Panthier J, Suprabha P, et al. The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation. Proc Natl Acad Sci U S A. 2003;100:1146-50 pubmed
    ..VPS33A thus is a good candidate gene for a previously uncharacterized form of human HPS...
  56. Azuma A. Shared mechanisms of lung injury and subsequent fibrosis: role of surfactant proteins in the pathogenesis of interstitial pneumonia in Hermansky-Pudlak Syndrome. Intern Med. 2005;44:529-30 pubmed
  57. Ohno H. Physiological roles of clathrin adaptor AP complexes: lessons from mutant animals. J Biochem. 2006;139:943-8 pubmed
  58. Holt O, Gallo F, Griffiths G. Regulating secretory lysosomes. J Biochem. 2006;140:7-12 pubmed
    ..The different regulatory components seem to vary from one cell type to another, providing a multitude of ways for fine tuning the release of secretory lysosomes...
  59. Nazarian R, Huizing M, Helip Wooley A, Starcevic M, Gahl W, Dell Angelica E. An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome. Mol Genet Metab. 2008;93:134-44 pubmed
  60. Osanai K, Voelker D. Analysis and expression of Rab38 in oculocutaneous lung disease. Methods Enzymol. 2008;438:203-15 pubmed publisher
    ..Rab38 is a new strong candidate gene for human Hermansky-Pudlak syndrome (HPS) that is characterized by OCA, bleeding diathesis, and lung disease...
  61. Chan W, Sherer N, Uchil P, Novak E, Swank R, Mothes W. Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis. PLoS ONE. 2008;3:e2713 pubmed publisher
    ..Retroviruses have been observed to bud intracellularly into multivesicular bodies (MVB), in addition to the plasma membrane. Release from MVB is thought to occur by Ca(2+)-regulated fusion with the plasma membrane...
  62. Gahl W, Brantly M, Troendle J, Avila N, Padua A, Montalvo C, et al. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol Genet Metab. 2002;76:234-42 pubmed
    ..Clinical and laboratory side effects were similar in the two groups. Pirfenidone appears to slow the progression of pulmonary fibrosis in HPS patients who have significant residual lung function...
  63. Trambas C, Griffiths G. Delivering the kiss of death. Nat Immunol. 2003;4:399-403 pubmed
    ..Although the process by which this occurs is not yet known, it is possible that events taking place at the immunological synapse may render the killer cell susceptible to fratricidal attack by other killer cells...
  64. Martina J, Moriyama K, Bonifacino J. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J Biol Chem. 2003;278:29376-84 pubmed
  65. Yoshioka Y, Kumasaka T, Ishidoh K, Kominami E, Mitani K, Hosokawa Y, et al. Inflammatory response and cathepsins in silica-exposed Hermansky-Pudlak syndrome model pale ear mice. Pathol Int. 2004;54:322-31 pubmed
    ..These phenomena induced by silica suggest that external stimuli bring forth fibrogenesis in the animal models or humans that have HPS1 gene mutation...
  66. Lederer D, Kawut S, Sonett J, Vakiani E, Seward S, White J, et al. Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome. J Heart Lung Transplant. 2005;24:1697-9 pubmed
    ..Lung transplantation is a viable therapeutic option in patients with pulmonary fibrosis and only a mild bleeding diathesis associated with HPS...
  67. Grucela A, Patel P, Goldstein E, Palmon R, Sachar D, Steinhagen R. Granulomatous enterocolitis associated with Hermansky-Pudlak syndrome. Am J Gastroenterol. 2006;101:2090-5 pubmed
    ..This colitis can be severe, and has been reported to be poorly responsive to medical therapies including sulfasalazine, mesalamine, steroids, and metronidazole...
  68. Vincent L, Adams D, Hess R, Ziegler S, Tsilou E, Golas G, et al. Hermansky-Pudlak syndrome type 1 in patients of Indian descent. Mol Genet Metab. 2009;97:227-33 pubmed publisher
    ..398+5G>A and c.980-1G>T, to ensure that patients can be monitored and treated for clinical complications unique to HPS. ..
  69. Dell Angelica E. AP-3-dependent trafficking and disease: the first decade. Curr Opin Cell Biol. 2009;21:552-9 pubmed publisher
    ..These studies have brought into focus ideas about the specific roles of this pathway in protein trafficking and organelle biogenesis within the endosomal-lysosomal system...
  70. Cheli V, Dell Angelica E. Early origin of genes encoding subunits of biogenesis of lysosome-related organelles complex-1, -2 and -3. Traffic. 2010;11:579-86 pubmed publisher
    ..Potential orthologs of Mon1 and Ccz1 were found in humans and several other eukaryotes...
  71. Tagboto S, Carr S, Varghese A, Allen A, Feehally J, Furness P. Iga nephropathy, antineutrophil cytoplasmic antibodies and crescentic glomerulonephritis in a patient with the Hermansky-Pudlak syndrome. Am J Nephrol. 2001;21:58-62 pubmed
    ..We suggest that this novel combination of renal changes might be explained on the basis of alterations in immune mechanisms in the Hermansky-Pudlak syndrome...
  72. Woinke M, Koksch M, Scheel H, Böhme H, Ruhlmann C. [Diagnosis of Hermansky-Pudlak syndrome]. Dtsch Med Wochenschr. 2001;126:1261-4 pubmed
    ..Bone-marrow biopsy when aged 9 years had revealed abnormal pigment-storing cells. Physical examination showed a very fair skin and hair, spontaneous nystagmus and extensive rash in the face...
  73. Oiso N, Riddle S, Serikawa T, Kuramoto T, Spritz R. The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain. Mamm Genome. 2004;15:307-14 pubmed
    ..In humans, seven different HPS genes are known. In the mouse, at least 16 loci associated with HPS-like mutant phenotypes are known, seven of which are homologous to the human HPS loci...
  74. Cordova A, Barrios N, Ortiz I, Rivera E, Cadilla C, Santiago Borrero P. Poor response to desmopressin acetate (DDAVP) in children with Hermansky-Pudlak syndrome. Pediatr Blood Cancer. 2005;44:51-4 pubmed
    ..Desmopressin (1-deamino-8-D-arginine vasopressin, (DDAVP)) has been recommended in the management of bleeding disorders characterized by platelet dysfunction, such as HPS...
  75. Styers M, Kowalczyk A, Faundez V. Intermediate filaments and vesicular membrane traffic: the odd couple's first dance?. Traffic. 2005;6:359-65 pubmed
    ..Furthermore, we will discuss potential mechanisms by which IFs may regulate the localization and function of organelles...
  76. Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, et al. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood. 2006;108:362-9 pubmed
    ..Our findings extend the clinical and molecular phenotype of human AP-3 deficiency (also known as Hermansky-Pudlak syndrome, type 2) and provide further insights into the role of the AP-3 complex for the innate immune system...
  77. Nguyen T, Wei M. Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development. J Invest Dermatol. 2007;127:421-8 pubmed
    ..The implications of these findings for the mechanisms governing physiologic variation in human pigmentation and for the pathogenesis of vitiligo are discussed...
  78. Reed G. Good breeding matters: in-bred rodents provide genetic insights into platelet secretion. Thromb Haemost. 2003;89:951-2 pubmed
  79. Datta Y, Wu F, Dumas P, Rangel Filho A, Datta M, Ning G, et al. Genetic mapping and characterization of the bleeding disorder in the fawn-hooded hypertensive rat. Thromb Haemost. 2003;89:1031-42 pubmed
    ..Therefore positional cloning of the gene responsible for the bleeding disorder in the FHH rat will lead to new insights in platelet physiology, with implications for diagnosis and management of hemostatic and thrombotic disorders...
  80. Scheinfeld N. Syndromic albinism: a review of genetics and phenotypes. Dermatol Online J. 2003;9:5 pubmed
    ..As such they are distinct from oculocutaneous albinism, which is associated with defects in the production of melanin (e.g., TRP1, P gene, and tyrosinase)...
  81. Di Pietro S, Falcon Perez J, Dell Angelica E. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic. 2004;5:276-83 pubmed
    ..Our results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease...
  82. Thomas de Montpréville V, Mussot S, Dulmet E, Dartevelle P. [Pulmonary fibrosis in Hermansky-Pudlak syndrome is not fully usual]. Ann Pathol. 2006;26:445-9 pubmed
    ..This lesion allows the histological individualization of pulmonary fibrosis associated with Hermansky-Pudlak syndrome from idiopathic usual interstitial pneumonia...
  83. del Pozo Pozo A, Jimenez Yuste V, Villar A, Quintana M, Hernandez Navarro F. Successful thyroidectomy in a patient with Hermansky-Pudlak syndrome treated with recombinant activated factor VII and platelet concentrates. Blood Coagul Fibrinolysis. 2002;13:551-3 pubmed
    ..No evidence of local bleeding complication could be detected during the entire post-operative period. The hemoglobin level remained normal and no transfusions of packed red cells were necessary. No adverse events occurred...
  84. Poletti V, Costabel U, Casoni G, Bigliazzi C, Drent M, Olivieri D. Rare infiltrative lung diseases: a challenge for clinicians. Respiration. 2004;71:431-43 pubmed
    ..The intent is, however, to emphasize that in this difficult field multidisciplinary expertise and the knowledge of the most recent pathogenetic mechanisms have the main role in diagnosis and treatment...
  85. Tang J, Tsilou E, Caruso R, Rubin B, Gahl W. Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome. Retina. 2005;25:99-100 pubmed
  86. Huizing M, Pederson B, Hess R, Griffin A, Helip Wooley A, Westbroek W, et al. Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. J Med Genet. 2009;46:803-10 pubmed publisher
    ..These findings are not only important for providing a prognosis to newly diagnosed HPS-6 patients, but also for further elucidation of HPS function in the biogenesis of LROs. ..
  87. Wei A, Wang Y, Long Y, Wang Y, Guo X, Zhou Z, et al. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. J Invest Dermatol. 2010;130:716-24 pubmed publisher
    ..6% of the mutational SLC45A2 alleles in Chinese OCA4 patients. These results provide useful information for the establishment of an optimized strategy of gene diagnosis and genetic counseling of Chinese OCA patients...
  88. Anderson P, Huizing M, Claassen D, White J, Gahl W. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet. 2003;113:10-7 pubmed
  89. Neeracher N, Iseli H, Ganter C, Saupe N, Hafezi F. [Hypopigmentation of the fundus oculi and pulmonary fibrosis]. Ophthalmologe. 2003;100:480-1 pubmed
  90. Del Val M, Yewdell J. The latest killer AP. Nat Immunol. 2003;4:1049-50 pubmed
  91. Young L, Borchers M, Allen H, Gibbons R, McCormack F. Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome. J Immunol. 2006;176:4361-8 pubmed
    ..Similar abnormalities were identified in AMs and BAL from another HPS model, pale ear HPS1 mice. We conclude that the lungs of HPS mice exhibit hyperresponsiveness to LPS and constitutive and organ-specific macrophage activation...
  92. Rouhani F, Brantly M, Markello T, Helip Wooley A, O BRIEN K, Hess R, et al. Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1. Am J Respir Crit Care Med. 2009;180:1114-21 pubmed publisher
    ..The etiology of pulmonary fibrosis associated with HPS-1 is unknown...