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