| 1 | DTNBP1, MUTED, SCZD3
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| Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility.
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| Morris DW, Murphy K, Kenny N, Purcell SM, McGhee KA, Schwaiger S, Nangle JM, Donohoe G, Clarke S, Scully P, Quinn J, Meagher D, Baldwin P, Crumlish N, O'Callaghan E, Waddington JL, Gill M, Corvin AP.
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| Biol Psychiatry 63(1):24-31. Epub 2007 Jul 9.
2008
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| 2 | BLOC1S1, BLOC1S2, BLOC1S3, SNAPIN, MUTED, CNO, PDN
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| 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).
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| Starcevic M, Dell'Angelica EC.
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| J Biol Chem 279(27):28393-401. Epub 2004 Apr 21. 2004
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| 3 | BLOC1S2, BLOC1S3, BLOC1S6, MUTED, SNAPiN
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| 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).
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| Starcevic M, Dell'Angelica EC.
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| J Biol Chem 279(27):28393-401. Epub 2004 Apr 21. 2004
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| 4 | MUTED, CNO
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| Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).
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| Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL.
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| Blood 101(11):4402-7. Epub 2003 Feb 6. 2003
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| 5 | TXNDC5, MUTED
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| The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.
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| Zhang Q, Li W, Novak EK, Karim A, Mishra VS, Kingsmore SF, Roe BA, SuzukiT, Swank RT.
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| Hum Mol Genet 11(6):697-706. 2002
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| 6 | BLOC1S6, MUTED
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| BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.
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| Falcon-Perez JM, Starcevic M, Gautam R, Dell'Angelica EC.
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| J Biol Chem 277(31):28191-9. Epub 2002 May 17. 2002
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