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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.


Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.

Nguyen T, Novak EK, Kermani M, Fluhr J, Peters LL, Swank RT, Wei ML.

J Invest Dermatol. 2002 Nov;119(5):1156-64.


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.


Two distinct phenotypes in pigmented cells of different embryonic origins in eyes of pale ear mice.

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

Exp Eye Res. 2014 Feb;119:35-43. doi: 10.1016/j.exer.2013.12.007.


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.


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.


Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism.

Gwynn B, Ciciotte SL, Hunter SJ, Washburn LL, Smith RS, Andersen SG, Swank RT, Dell'Angelica EC, Bonifacino JS, Eicher EM, Peters LL.

Blood. 2000 Dec 15;96(13):4227-35.


Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.

Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA.

Nat Genet. 2002 Mar;30(3):321-4.


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.


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.


High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.

Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, Hatano M, Takiwaki H, Kakuta Y, Spritz RA, Tomita Y.

J Invest Dermatol. 2005 Oct;125(4):715-20.


Inflammatory response and cathepsins in silica-exposed Hermansky-Pudlak syndrome model pale ear mice.

Yoshioka Y, Kumasaka T, Ishidoh K, Kominami E, Mitani K, Hosokawa Y, Fukuchi Y.

Pathol Int. 2004 May;54(5):322-31.


Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.

Huizing M, Pederson B, Hess RA, Griffin A, Helip-Wooley A, Westbroek W, Dorward H, O'Brien KJ, Golas G, Tsilou E, White JG, Gahl WA.

J Med Genet. 2009 Dec;46(12):803-10. doi: 10.1136/jmg.2008.065961.


Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome.

Lyerla TA, Rusiniak ME, Borchers M, Jahreis G, Tan J, Ohtake P, Novak EK, Swank RT.

Am J Physiol Lung Cell Mol Physiol. 2003 Sep;285(3):L643-53.

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