| 1 | HPS4
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| A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.
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| Wu W, Lin K, Yang Y, Dong Z, Zhang T, Lei W, Yang W, Yang Z.
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| Medicine (Baltimore) 98(33):e16899. doi: 10.1097/MD.0000000000016899.
2019
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| 2 | HPS4, RAB32, RAB38, RAB9A
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| The BLOC-3 subunit HPS4 is required for activation of Rab32/38 GTPases in melanogenesis, but its Rab9 activity is dispensable for melanogenesis.
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| Ohishi Y, Kinoshita R, Marubashi S, Ishida M, Fukuda M.
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| J Biol Chem 294(17):6912-6922. doi: 10.1074/jbc.RA119.007345. Epub 2019 Mar 5.
2019
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| 3 | HPS4
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| A novel nonsense mutation in a patient with Hermansky-Pudlak syndrome type 4.
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| Sandrock-Lang K, Böckelmann D, Eberl W, Schmitt-Kästner S, Zieger B.
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| Blood Cells Mol Dis 69:113-116. doi: 10.1016/j.bcmd.2017.10.005. Epub 2017 Oct 31. No abstract available.
2018
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| 4 | ANKRD27, BLOC1S1, BLOC1S6, HPS4, RAB32, RAB38, VAMP7
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| BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers.
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| Dennis MK, Delevoye C, Acosta-Ruiz A, Hurbain I, Romao M, Hesketh GG, Goff PS, Sviderskaya EV, Bennett DC, Luzio JP, Galli T, Owen DJ, Raposo G, Marks MS.
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| J Cell Biol 214(3):293-308. doi: 10.1083/jcb.201605090. 2016
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| 5 | HPS4
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| Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects.
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| Kuratomi G, Saito A, Ozeki Y, Watanabe T, Fujii K, Shimoda K, Inukai T, Mori H, Ohmori K, Akiyama K.
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| BMC Psychiatry 13:276. doi: 10.1186/1471-244X-13-276.
2013
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| 6 | BLOC1S3, HPS1, HPS4
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| A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).
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| Carmona-Rivera C, Simeonov DR, Cardillo ND, Gahl WA, Cadilla CL
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| Biochim Biophys Acta. Mar;1833(3):468-78. doi: 10.1016/j.bbamcr.2012.10.019. Epub 2012 Oct 23. 2013
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| 7 | HPS4
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| BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.
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| Gerondopoulos A, Langemeyer L, Liang JR, Linford A, Barr FA.
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| Curr Biol 22(22):2135-9. doi: 10.1016/j.cub.2012.09.020. Epub 2012 Oct 18.
2012
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| 8 | HPS1, HPS4, RAB9A, RAB9B
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| Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.
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| Kloer DP, Rojas R, Ivan V, Moriyama K, van Vlijmen T, Murthy N, Ghirlando R, van der Sluijs P, Hurley JH, Bonifacino JS.
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| J Biol Chem 285(10):7794-804. Epub 2010 Jan 4. 2010
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| 9 | HPS1, HPS4
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| Early origin of genes encoding subunits of biogenesis of lysosome-related organelles complex-1, -2 and -3.
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| Cheli VT, Dell'Angelica EC.
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| Traffic 11(5):579-86. Epub 2010 Jan 20.PMID: 20102546 2010
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| 10 | HPS, HPS2, HPS3, HPS4, HPS5, HPS6, HPS7, HPS8
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| BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.
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| 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.
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| Mol Biol Cell 18(3):768-80. Epub 2006 Dec 20.
2007
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| 11 | HPS1, HPS2, HPS3, HPS4, HPS5, HPS6, HPS7, HPS8
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| Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
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| Wei ML.
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| Pigment Cell Res 19(1):19-42. Review.PMID: 16420244 2006
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| 12 | HPS1, HPS2, HPS3, HPS4, HPS5, HPS6, HPS7, HPS8
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| A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
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| Schreyer-Shafir N, Huizing M, Anikster Y, Nusinker Z, Bejarano-Achache I, Maftzir G, Resnik L, Helip-Wooley A, Westbroek W, Gradstein L, Rosenmann A, Blumenfeld A.
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| Hum Mutat 27(11):1158.PMID: 17041891 2006
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| 13 | HPS4
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| Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.
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| Anderson PD, Huizing M, Claassen DA, White J, Gahl WA.
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| Hum Genet 113(1):10-7. Epub 2003 Mar 27. 2003
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| 14 | HPS1, HPS4
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| The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles.
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| Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA.
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| J Biol Chem 278(22):20332-7. Epub 2003 Mar 27. 2003
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| 15 | HPS1, HPS4
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| BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.
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| Martina JA, Moriyama K, Bonifacino JS.
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| J Biol Chem 278(31):29376-84. Epub 2003 May 19. 2003
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