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Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking.

Richmond B, Huizing M, Knapp J, Koshoffer A, Zhao Y, Gahl WA, Boissy RE.

J Invest Dermatol. 2005 Feb;124(2):420-7.


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

Helip-Wooley A, Westbroek W, Dorward HM, Koshoffer A, Huizing M, Boissy RE, Gahl WA.

J Invest Dermatol. 2007 Jun;127(6):1471-8. Epub 2007 Feb 15.


AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes.

Huizing M, Sarangarajan R, Strovel E, Zhao Y, Gahl WA, Boissy RE.

Mol Biol Cell. 2001 Jul;12(7):2075-85.


Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3.

Boissy RE, Richmond B, Huizing M, Helip-Wooley A, Zhao Y, Koshoffer A, Gahl WA.

Am J Pathol. 2005 Jan;166(1):231-40.


Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.

Wei ML.

Pigment Cell Res. 2006 Feb;19(1):19-42. Review.


Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.

Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA.

Pediatr Res. 2002 Feb;51(2):150-8.


Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.

Nazarian R, Falcón-Pérez JM, Dell'Angelica EC.

Proc Natl Acad Sci U S A. 2003 Jul 22;100(15):8770-5. Epub 2003 Jul 7.


A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA.

Am J Hum Genet. 2011 Jun 10;88(6):778-87. doi: 10.1016/j.ajhg.2011.05.009.


The Ap3b1 gene regulates the ocular melanosome biogenesis and tyrosinase distribution differently from the Hps1 gene.

Jing R, Dong X, Li K, Yan J, Chen X, Feng L.

Exp Eye Res. 2014 Nov;128:57-66. doi: 10.1016/j.exer.2014.08.010. Epub 2014 Aug 24.


Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development.

Nguyen T, Wei ML.

J Invest Dermatol. 2007 Feb;127(2):421-8. Epub 2006 Oct 19.


Melanocytic galectin-3 is associated with tyrosinase-related protein-1 and pigment biosynthesis.

Chalupa A, Koshoffer A, Galan E, Yu L, Liu FT, Boissy RE.

J Invest Dermatol. 2015 Jan;135(1):202-11. doi: 10.1038/jid.2014.315. Epub 2014 Jul 23.


The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase.

Toyofuku K, Valencia JC, Kushimoto T, Costin GE, Virador VM, Vieira WD, Ferrans VJ, Hearing VJ.

Pigment Cell Res. 2002 Jun;15(3):217-24. Erratum in: Pigment Cell Res. 2002 Oct;15(5):400..


BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.

Martina JA, Moriyama K, Bonifacino JS.

J Biol Chem. 2003 Aug 1;278(31):29376-84. Epub 2003 May 19.


Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.

Huizing M, Gahl WA.

Curr Mol Med. 2002 Aug;2(5):451-67. Review.


A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).

Carmona-Rivera C, Simeonov DR, Cardillo ND, Gahl WA, Cadilla CL.

Biochim Biophys Acta. 2013 Mar;1833(3):468-78. doi: 10.1016/j.bbamcr.2012.10.019. Epub 2012 Oct 23.


Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.

Gwynn B, Martina JA, Bonifacino JS, Sviderskaya EV, Lamoreux ML, Bennett DC, Moriyama K, Huizing M, Helip-Wooley A, Gahl WA, Webb LS, Lambert AJ, Peters LL.

Blood. 2004 Nov 15;104(10):3181-9. Epub 2004 Jul 20.


A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.

Cullinane AR, Curry JA, Golas G, Pan J, Carmona-Rivera C, Hess RA, White JG, Huizing M, Gahl WA.

Pigment Cell Melanoma Res. 2012 Sep;25(5):584-91. doi: 10.1111/j.1755-148X.2012.01029.x. Epub 2012 Aug 2.

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