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Results: 1 to 20 of 101

Similar articles for PubMed (Select 16159387)

1.

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin.

Helip-Wooley A, Westbroek W, Dorward H, Mommaas M, Boissy RE, Gahl WA, Huizing M.

BMC Cell Biol. 2005 Sep 13;6:33.

2.

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.

3.

The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).

Gautam R, Chintala S, Li W, Zhang Q, Tan J, Novak EK, Di Pietro SM, Dell'Angelica EC, Swank RT.

J Biol Chem. 2004 Mar 26;279(13):12935-42. Epub 2004 Jan 12.

4.

Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.

Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC.

Traffic. 2004 Apr;5(4):276-83.

PMID:
15030569
5.

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

Huizing M, Gahl WA.

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

PMID:
12125811
6.

Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3.

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

J Cell Sci. 2005 Nov 15;118(Pt 22):5243-55. Epub 2005 Oct 25.

7.
8.

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. Epub 2002 Feb 11.

PMID:
11836498
9.

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.

10.

Hermansky-Pudlak syndrome: vesicle formation from yeast to man.

Huizing M, Boissy RE, Gahl WA.

Pigment Cell Res. 2002 Dec;15(6):405-19. Review.

PMID:
12453182
11.

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.

13.

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR.

Nat Genet. 2001 Aug;28(4):376-80.

PMID:
11455388
14.

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.

16.

Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus.

Huizing M, Anikster Y, White JG, Gahl WA.

Mol Genet Metab. 2001 Sep-Oct;74(1-2):217-25.

PMID:
11592818
17.

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

Wei ML.

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

PMID:
16420244
18.

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.

19.

Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).

Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL.

Blood. 2003 Jun 1;101(11):4402-7. Epub 2003 Feb 6.

20.

Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.

Stanescu H, Wolfsberg TG, Moreland RT, Ayub MH, Erickson E, Westbroek W, Huizing M, Gahl WA, Helip-Wooley A.

Ann Hum Genet. 2009 Jul;73(Pt 4):422-8. doi: 10.1111/j.1469-1809.2009.00525.x.

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