439 related articles for article (PubMed ID: 12923531)
1. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Li W; Zhang Q; Oiso N; Novak EK; Gautam R; O'Brien EP; Tinsley CL; Blake DJ; Spritz RA; Copeland NG; Jenkins NA; Amato D; Roe BA; Starcevic M; Dell'Angelica EC; Elliott RW; Mishra V; Kingsmore SF; Paylor RE; Swank RT
Nat Genet; 2003 Sep; 35(1):84-9. PubMed ID: 12923531
[TBL] [Abstract][Full Text] [Related]
2. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
Starcevic M; Dell'Angelica EC
J Biol Chem; 2004 Jul; 279(27):28393-401. PubMed ID: 15102850
[TBL] [Abstract][Full Text] [Related]
3. Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).
Ciciotte SL; Gwynn B; Moriyama K; Huizing M; Gahl WA; Bonifacino JS; Peters LL
Blood; 2003 Jun; 101(11):4402-7. PubMed ID: 12576321
[TBL] [Abstract][Full Text] [Related]
4. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
Nazarian R; Falcón-Pérez JM; Dell'Angelica EC
Proc Natl Acad Sci U S A; 2003 Jul; 100(15):8770-5. PubMed ID: 12847290
[TBL] [Abstract][Full Text] [Related]
5. Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.
Gwynn B; Martina JA; Bonifacino JS; Sviderskaya EV; Lamoreux ML; Bennett DC; Moriyama K; Huizing M; Helip-Wooley A; Gahl WA; Webb LS; Lambert AJ; Peters LL
Blood; 2004 Nov; 104(10):3181-9. PubMed ID: 15265785
[TBL] [Abstract][Full Text] [Related]
6. Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression.
Bhattad S; Libre M; Choi JM; Mohite RS; Singh N; Markle JG
Eur J Med Genet; 2023 Jul; 66(7):104786. PubMed ID: 37172778
[TBL] [Abstract][Full Text] [Related]
7. 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 MCV; Gochuico BR
Mol Genet Metab; 2017 Apr; 120(4):378-383. PubMed ID: 28259707
[TBL] [Abstract][Full Text] [Related]
8. Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein.
Nazarian R; Starcevic M; Spencer MJ; Dell'Angelica EC
Biochem J; 2006 May; 395(3):587-98. PubMed ID: 16448387
[TBL] [Abstract][Full Text] [Related]
9. Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles.
Li W; Rusiniak ME; Chintala S; Gautam R; Novak EK; Swank RT
Bioessays; 2004 Jun; 26(6):616-28. PubMed ID: 15170859
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 22984402
[TBL] [Abstract][Full Text] [Related]
11. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.
Cullinane AR; Curry JA; Carmona-Rivera C; Summers CG; Ciccone C; Cardillo ND; Dorward H; Hess RA; White JG; Adams D; Huizing M; Gahl WA
Am J Hum Genet; 2011 Jun; 88(6):778-787. PubMed ID: 21665000
[TBL] [Abstract][Full Text] [Related]
12. The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).
Gautam R; Chintala S; Li W; Zhang Q; Tan J; Novak EK; Di Pietro SM; Dell'Angelica EC; Swank RT
J Biol Chem; 2004 Mar; 279(13):12935-42. PubMed ID: 14718540
[TBL] [Abstract][Full Text] [Related]
13. 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; 125(10):1623-32. PubMed ID: 25477496
[TBL] [Abstract][Full Text] [Related]
14.
Osanai K
Int J Mol Sci; 2018 Jul; 19(8):. PubMed ID: 30060521
[No Abstract] [Full Text] [Related]
15. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
Wei ML
Pigment Cell Res; 2006 Feb; 19(1):19-42. PubMed ID: 16420244
[TBL] [Abstract][Full Text] [Related]
16. Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism.
Gwynn B; Ciciotte SL; Hunter SJ; Washburn LL; Smith RS; Andersen SG; Swank RT; Dell'Angelica EC; Bonifacino JS; Eicher EM; Peters LL
Blood; 2000 Dec; 96(13):4227-35. PubMed ID: 11110696
[TBL] [Abstract][Full Text] [Related]
17. Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
Huizing M; Parkes JM; Helip-Wooley A; White JG; Gahl WA
Platelets; 2007 Mar; 18(2):150-7. PubMed ID: 17365864
[TBL] [Abstract][Full Text] [Related]
18. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.
Di Pietro SM; Falcón-Pérez JM; Dell'Angelica EC
Traffic; 2004 Apr; 5(4):276-83. PubMed ID: 15030569
[TBL] [Abstract][Full Text] [Related]
19. Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
Michaud V; Lasseaux E; Plaisant C; Verloes A; Perdomo-Trujillo Y; Hamel C; Elcioglu NH; Leroy B; Kaplan J; Jouk PS; Lacombe D; Fergelot P; Morice-Picard F; Arveiler B
Pigment Cell Melanoma Res; 2017 Jan; 30(6):563-570. PubMed ID: 28640947
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]