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LRRK2 and RAB7L1 coordinately regulate axonal morphology and lysosome integrity in diverse cellular contexts.

Kuwahara T, Inoue K, D'Agati VD, Fujimoto T, Eguchi T, Saha S, Wolozin B, Iwatsubo T, Abeliovich A.

Sci Rep. 2016 Jul 18;6:29945. doi: 10.1038/srep29945.


Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice.

Jessen B, Kögl T, Sepulveda FE, de Saint Basile G, Aichele P, Ehl S.

Front Immunol. 2013 Dec 16;4:448. doi: 10.3389/fimmu.2013.00448. eCollection 2013.


The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.

Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S.

Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12.


AP-3 and Rabip4' coordinately regulate spatial distribution of lysosomes.

Ivan V, Martinez-Sanchez E, Sima LE, Oorschot V, Klumperman J, Petrescu SM, van der Sluijs P.

PLoS One. 2012;7(10):e48142. doi: 10.1371/journal.pone.0048142. Epub 2012 Oct 29.


The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome.

Young LR, Gulleman PM, Bridges JP, Weaver TE, Deutsch GH, Blackwell TS, McCormack FX.

Am J Respir Crit Care Med. 2012 Nov 15;186(10):1014-24. doi: 10.1164/rccm.201207-1206OC. Epub 2012 Oct 4.


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.


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.


Identification of Mouse Cytomegalovirus Resistance Loci by ENU Mutagenesis.

Crozat K, Georgel P.

Viruses. 2009 Dec;1(3):460-83. doi: 10.3390/v1030460. Epub 2009 Oct 20.


A novel role for platelet secretion in angiogenesis: mediating bone marrow-derived cell mobilization and homing.

Feng W, Madajka M, Kerr BA, Mahabeleshwar GH, Whiteheart SW, Byzova TV.

Blood. 2011 Apr 7;117(14):3893-902. doi: 10.1182/blood-2010-08-304808. Epub 2011 Jan 11. Erratum in: Blood. 2011 Jun 30;117(26):7187.


Roles of BLOC-1 and adaptor protein-3 complexes in cargo sorting to synaptic vesicles.

Newell-Litwa K, Salazar G, Smith Y, Faundez V.

Mol Biol Cell. 2009 Mar;20(5):1441-53. doi: 10.1091/mbc.E08-05-0456. Epub 2009 Jan 14.


Dysbindin-1, a schizophrenia-related protein, functionally interacts with the DNA- dependent protein kinase complex in an isoform-dependent manner.

Oyama S, Yamakawa H, Sasagawa N, Hosoi Y, Futai E, Ishiura S.

PLoS One. 2009;4(1):e4199. doi: 10.1371/journal.pone.0004199. Epub 2009 Jan 14.


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.


Regulation of large dense-core vesicle volume and neurotransmitter content mediated by adaptor protein 3.

Grabner CP, Price SD, Lysakowski A, Cahill AL, Fox AP.

Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):10035-40. Epub 2006 Jun 20.


Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome.

Young LR, Borchers MT, Allen HL, Gibbons RS, McCormack FX.

J Immunol. 2006 Apr 1;176(7):4361-8.


Role of the endocytic machinery in the sorting of lysosome-associated membrane proteins.

Janvier K, Bonifacino JS.

Mol Biol Cell. 2005 Sep;16(9):4231-42. Epub 2005 Jun 29.


Loss of myosin VI reduces secretion and the size of the Golgi in fibroblasts from Snell's waltzer mice.

Warner CL, Stewart A, Luzio JP, Steel KP, Libby RT, Kendrick-Jones J, Buss F.

EMBO J. 2003 Feb 3;22(3):569-79.


The delta subunit of AP-3 is required for efficient transport of VSV-G from the trans-Golgi network to the cell surface.

Nishimura N, Plutner H, Hahn K, Balch WE.

Proc Natl Acad Sci U S A. 2002 May 14;99(10):6755-60. Epub 2002 May 7.


The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.

Zhang Q, Li W, Novak EK, Karim A, Mishra VS, Kingsmore SF, Roe BA, Suzuki T, Swank RT.

Hum Mol Genet. 2002 Mar 15;11(6):697-706.


Assembly and function of AP-3 complexes in cells expressing mutant subunits.

Peden AA, Rudge RE, Lui WW, Robinson MS.

J Cell Biol. 2002 Jan 21;156(2):327-36. Epub 2002 Jan 21.


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.

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