Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 21

1.

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Bryan MM, Tolman NJ, Simon KL, Huizing M, Hufnagel RB, Brooks BP, Speransky V, Mullikin JC, Gahl WA, Malicdan MC, Gochuico BR.

Mol Genet Metab. 2017 Apr;120(4):378-383. doi: 10.1016/j.ymgme.2017.02.007. Epub 2017 Feb 27.

PMID:
28259707
2.

BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery.

Dennis MK, Mantegazza AR, Snir OL, Tenza D, Acosta-Ruiz A, Delevoye C, Zorger R, Sitaram A, de Jesus-Rojas W, Ravichandran K, Rux J, Sviderskaya EV, Bennett DC, Raposo G, Marks MS, Setty SR.

J Cell Biol. 2015 May 25;209(4):563-77. doi: 10.1083/jcb.201410026.

3.

Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome.

Sharda A, Kim SH, Jasuja R, Gopal S, Flaumenhaft R, Furie BC, Furie B.

Blood. 2015 Mar 5;125(10):1633-42. doi: 10.1182/blood-2014-08-597419. Epub 2015 Jan 15.

4.

Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models.

Meng R, Wu J, Harper DC, Wang Y, Kowalska MA, Abrams CS, Brass LF, Poncz M, Stalker TJ, Marks MS.

Blood. 2015 Mar 5;125(10):1623-32. doi: 10.1182/blood-2014-07-586727. Epub 2014 Dec 4.

5.

snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5.

Daly CM, Willer J, Gregg R, Gross JM.

Genetics. 2013 Oct;195(2):481-94. doi: 10.1534/genetics.113.154898. Epub 2013 Jul 26.

6.

The BLOC-1 complex promotes endosomal maturation by recruiting the Rab5 GTPase-activating protein Msb3.

John Peter AT, Lachmann J, Rana M, Bunge M, Cabrera M, Ungermann C.

J Cell Biol. 2013 Apr 1;201(1):97-111. doi: 10.1083/jcb.201210038.

7.

Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.

Rachel RA, Nagashima K, O'Sullivan TN, Frost LS, Stefano FP, Marigo V, Boesze-Battaglia K.

PLoS One. 2012;7(9):e42446. doi: 10.1371/journal.pone.0042446. Epub 2012 Sep 11.

8.

The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.

Yang Q, He X, Yang L, Zhou Z, Cullinane AR, Wei A, Zhang Z, Hao Z, Zhang A, He M, Feng Y, Gao X, Gahl WA, Huizing M, Li W.

Traffic. 2012 Aug;13(8):1160-9. doi: 10.1111/j.1600-0854.2012.01375.x. Epub 2012 May 28.

9.

BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles.

Bultema JJ, Ambrosio AL, Burek CL, Di Pietro SM.

J Biol Chem. 2012 Jun 1;287(23):19550-63. doi: 10.1074/jbc.M112.351908. Epub 2012 Apr 16.

10.

Mechanisms of protein delivery to melanosomes in pigment cells.

Sitaram A, Marks MS.

Physiology (Bethesda). 2012 Apr;27(2):85-99. doi: 10.1152/physiol.00043.2011. Review.

11.

Targeting protein-trafficking pathways alters melanoma treatment sensitivity.

Huang ZM, Chinen M, Chang PJ, Xie T, Zhong L, Demetriou S, Patel MP, Scherzer R, Sviderskaya EV, Bennett DC, Millhauser GL, Oh DH, Cleaver JE, Wei ML.

Proc Natl Acad Sci U S A. 2012 Jan 10;109(2):553-8. doi: 10.1073/pnas.1118366109. Epub 2011 Dec 27.

12.

[Biogenesis of melanosomes - the chessboard of pigmentation].

Delevoye C, Giordano F, van Niel G, Raposo G.

Med Sci (Paris). 2011 Feb;27(2):153-62. doi: 10.1051/medsci/2011272153. Epub 2011 Mar 8. French.

13.

Inherited platelet disorders: thrombocytopenias and thrombocytopathies.

D'Andrea G, Chetta M, Margaglione M.

Blood Transfus. 2009 Oct;7(4):278-92. doi: 10.2450/2009.0078-08. Review. No abstract available.

14.

Krüppel-like factor 4 is involved in functional differentiation of testicular Sertoli cells.

Godmann M, Katz JP, Guillou F, Simoni M, Kaestner KH, Behr R.

Dev Biol. 2008 Mar 15;315(2):552-66. doi: 10.1016/j.ydbio.2007.12.018. Epub 2008 Feb 20.

15.

An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.

Nazarian R, Huizing M, Helip-Wooley A, Starcevic M, Gahl WA, Dell'Angelica EC.

Mol Genet Metab. 2008 Feb;93(2):134-44. Epub 2007 Oct 22.

16.

Melanosomes--dark organelles enlighten endosomal membrane transport.

Raposo G, Marks MS.

Nat Rev Mol Cell Biol. 2007 Oct;8(10):786-97. Review.

17.

BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.

Setty SR, Tenza D, Truschel ST, Chou E, Sviderskaya EV, Theos AC, Lamoreux ML, Di Pietro SM, Starcevic M, Bennett DC, Dell'Angelica EC, Raposo G, Marks MS.

Mol Biol Cell. 2007 Mar;18(3):768-80. Epub 2006 Dec 20. Erratum in: Mol Biol Cell. 2017 Feb 1;28(3):500.

18.

BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes.

Di Pietro SM, Falcón-Pérez JM, Tenza D, Setty SR, Marks MS, Raposo G, Dell'Angelica EC.

Mol Biol Cell. 2006 Sep;17(9):4027-38. Epub 2006 Jul 12.

19.

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.

20.

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.

Supplemental Content

Support Center