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The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.

Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5

Helip-Wooley, Amanda, Westbroek, Wendy, Dorward, Heidi M., Koshoffer, Amy, Huizing, Marjan, Boissy, Raymond E., Gahl, William A.·2007·Journal of Investigative Dermatology
DOI 10.1038/sj.jid.5700737
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Crossref · 10.1038/sj.jid.5700737

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  • The phenotypes of rab32a and hps5 mutants suggest distinct contributions to crystal morphology and organelle maturation.

    “Notably, the phenotypes of rab32a and hps5 mutants suggest distinct contributions also to crystal morphology and organelle maturation, mirroring the specialized trafficking roles previously ascribed to these proteins in melanosomes (30, 41, 85, 90, 91).”

    From Lysosome-related organelles orchestrate guanine crystal formation in pigment cells (2026) · cites this paper as [91]

    The Discussion (page not available in our copy) links HPS5/BLOC-2 to trafficking of melanogenic proteins and failure of melanosomes to mature. The Ultrastructure section also reports predominantly early-stage melanosomes in HPS-5 cells. The paper does not address rab32a mutants, crystals, or distinct contributions of rab32a and hps5 to crystal morphology. (LLM, conf=0.86)

    Experimental — accuracy not yet measured

  • Hps5 functions in the BLOC2 complex, which in melanophores is involved in transport from early endosomes to maturating melanosomes.

    “Hps5 functions in the BLOC2 complex, which in melanophores is involved in transport from early endosomes to maturating melanosomes (23, 43, 44, 85, 91).”

    From Lysosome-related organelles orchestrate guanine crystal formation in pigment cells (2026) · cites this paper as [91]

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Citations

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Research works printed but not linked: 28

  1. Anikster, 2001, Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico, Nat Genet, 28, 376, 10.1038/ng576 · DOI
  2. Boissy, 2005, Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky–Pudlak syndrome-type 3, Am J Pathol, 165, 231, 10.1016/S0002-9440(10)62247-X · DOI
  3. Bonifacino, 2004, Insights into the biogenesis of lysosome-related organelles from the study of the Hermansky–Pudlak syndrome, Ann NY Acad Sci, 1038, 103, 10.1196/annals.1315.018 · DOI
  4. Chiang, 2003, The Hermansky–Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles, J Biol Chem, 278, 20332, 10.1074/jbc.M300090200 · DOI
  5. Di Pietro, 2005, The cell biology of Hermansky–Pudlak syndrome: recent advances, Traffic, 6, 525, 10.1111/j.1600-0854.2005.00299.x · DOI
  6. Di Pietro, 2004, Characterization of BLOC-2, a complex containing the Hermansky–Pudlak syndrome proteins HPS3, HPS5 and HPS6, Traffic, 5, 276, 10.1111/j.1600-0854.2004.0171.x · DOI · Paper page
  7. Di Pietro, 2006, BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes, Mol Biol Cell, 17, 4027, 10.1091/mbc.E06-05-0379 · DOI
  8. Gahl, 1998, Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky–Pudlak syndrome), N Engl J Med, 338, 1258, 10.1056/NEJM199804303381803 · DOI
  9. Gautam, 2004, The Hermansky–Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2), J Biol Chem, 279, 12935, 10.1074/jbc.M311311200 · DOI
  10. Hermansky, 1959, Albinism associated with hemorrhagic diathesis and unusual pigment reticular cells in the bone marrow: report of two cases with histochemical studies, Blood, 14, 162, 10.1182/blood.V14.2.162.162 · DOI
  11. Huizing, 2002, Hermansky–Pudlak syndrome: vesicle formation from yeast to man, Pig Cell Res, 15, 405, 10.1034/j.1600-0749.2002.02074.x · DOI
  12. Huizing, 2004, Cellular, molecular and clinical characterization of patients with Hermansky–Pudlak syndrome type 5, Traffic, 5, 711, 10.1111/j.1600-0854.2004.00208.x · DOI
  13. Huizing, 2001, AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes, Mol Biol Cell, 12, 2075, 10.1091/mbc.12.7.2075 · DOI
  14. Karnovsky, 1965, A formaldehyde-glutaraldehyde fixative of high osmolality for use in electron microscopy, J Cell Biol, 27, 137
  15. Karnovsky, 1971, Use of ferrocyanide-reduced osmium tetroxide in electron microscopy, J Cell Biol, 51, 146
  16. Li, 2003, 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, 35, 84, 10.1038/ng1229 · DOI
  17. Martina, 2003, BLOC-3, a protein complex containing the Hermansky–Pudlak syndrome gene products HPS1 and HPS4, J Biol Chem, 278, 29376, 10.1074/jbc.M301294200 · DOI
  18. Morgan, 2006, A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky–Pudlak syndrome (HPS8), Am J Hum Genet, 78, 160, 10.1086/499338 · DOI
  19. Naeyaert, 1991, Pigment content of cultured human melanocytes does not correlate with tyrosinase message level, Br J Dermatol, 125, 297, 10.1111/j.1365-2133.1991.tb14161.x · DOI
  20. Nazarian, 2003, Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky–Pudlak syndrome (HPS) proteins HPS1 and HPS4, Proc Natl Acad Sci USA, 100, 8770, 10.1073/pnas.1532040100 · DOI
  21. Simon, 1982, Ophthalmic manifestations of the Hermansky–Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis), Am J Ophthal, 93, 71, 10.1016/0002-9394(82)90701-2 · DOI
  22. Smit, 1998, Variations in melanin formation by cultured melanocytes from different skin types, Arch Dermatol Res, 290, 342, 10.1007/s004030050315 · DOI
  23. Summers, 1988, Hermansky–Pudlak syndrome. Ophthalmic findings, Ophthalmology, 95, 545, 10.1016/S0161-6420(88)33152-0 · DOI
  24. Theos, 2005, Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes, Mol Biol Cell, 16, 5356, 10.1091/mbc.E05-07-0626 · DOI · Paper page
  25. Wei, 2006, Hermansky–Pudlak syndrome: a disease of protein trafficking and organelle function, Pig Cell Res, 19, 19, 10.1111/j.1600-0749.2005.00289.x · DOI
  26. Witkop, 1987, Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky–Pudlak syndrome, Am J Hematol, 26, 305, 10.1002/ajh.2830260403 · DOI
  27. Zhao, 1994, Distinguishing between the catalytic potential and apparent expression of tyrosinase activities, Am J Med Sci, 308, 322, 10.1097/00000441-199412000-00003 · DOI
  28. Zhang, 2003, Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky–Pudlak syndrome types 5 and 6, Nat Genet, 33, 145, 10.1038/ng1087 · DOI

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Metadata

Authors
Helip-Wooley, A., Westbroek, W., Dorward, H. M., Koshoffer, A., Huizing, M., Boissy, R. E., & Gahl, W. A.
Venue
Journal of Investigative Dermatology
Publisher
Elsevier BV
Published
2007-06
Volume
127
Issue
6
Pages
1471-1478
ISSN
0022-202X
DOI
10.1038/sj.jid.5700737
Cited by
45
References
1
Language
en
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