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Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.
Annu Rev Genomics Hum Genet. 2008;9:359-86. doi: 10.1146/annurev.genom.9.081307.164303.
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Lysosome-related organelles.
FASEB J. 2000 Jul;14(10):1265-78. doi: 10.1096/fj.14.10.1265.
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Genetic regulation of Caenorhabditis elegans lysosome related organelle function.
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Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.
Pigment Cell Melanoma Res. 2013 Mar;26(2):176-92. doi: 10.1111/pcmr.12051. Epub 2012 Dec 31.
7
New insights into the pathogenesis of Hermansky-Pudlak syndrome.
Pigment Cell Melanoma Res. 2022 May;35(3):290-302. doi: 10.1111/pcmr.13030. Epub 2022 Feb 13.
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Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles.
Traffic. 2006 Jul;7(7):779-92. doi: 10.1111/j.1600-0854.2006.00431.x.
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Biogenesis of lysosome-related organelles complex-2 is an evolutionarily ancient proto-coatomer complex.
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From Gene to Pathways: Understanding Novel Vps51 Variant and Its Cellular Consequences.
Int J Mol Sci. 2025 Jun 14;26(12):5709. doi: 10.3390/ijms26125709.
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Skin lamellar bodies: a unique set of lysosome-related organelles.
Front Cell Dev Biol. 2025 Jun 9;13:1597696. doi: 10.3389/fcell.2025.1597696. eCollection 2025.
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Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3.
Front Genet. 2025 Mar 19;16:1465527. doi: 10.3389/fgene.2025.1465527. eCollection 2025.
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Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis.
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Impairment of Renal Function in Hermansky-Pudlak Syndrome.
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Maternal regulation of the vertebrate oocyte-to-embryo transition.
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2
Chediak-Higashi syndrome.
Curr Opin Hematol. 2008 Jan;15(1):22-9. doi: 10.1097/MOH.0b013e3282f2bcce.
3
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.
Mol Genet Metab. 2008 Feb;93(2):134-44. doi: 10.1016/j.ymgme.2007.09.001. Epub 2007 Oct 22.
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Severe congenital neutropenia: new genes explain an old disease.
Curr Opin Rheumatol. 2007 Nov;19(6):644-50. doi: 10.1097/BOR.0b013e3282f05cc2.
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Melanosomes--dark organelles enlighten endosomal membrane transport.
Nat Rev Mol Cell Biol. 2007 Oct;8(10):786-97. doi: 10.1038/nrm2258.
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'Should I stay or should I go?': myosin V function in organelle trafficking.
Biol Cell. 2007 Aug;99(8):411-23. doi: 10.1042/BC20070021.
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Lysosome-related organelles: driving post-Golgi compartments into specialisation.
Curr Opin Cell Biol. 2007 Aug;19(4):394-401. doi: 10.1016/j.ceb.2007.05.001. Epub 2007 Jul 12.
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Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Nature. 2007 Jul 5;448(7149):68-72. doi: 10.1038/nature05876. Epub 2007 Jun 17.
9
Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.
J Invest Dermatol. 2007 Nov;127(11):2674-7. doi: 10.1038/sj.jid.5700899. Epub 2007 May 31.
10
Intermediate filaments: from cell architecture to nanomechanics.
Nat Rev Mol Cell Biol. 2007 Jul;8(7):562-73. doi: 10.1038/nrm2197.

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