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Results: 1 to 20 of 40

1.

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.

Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E.

Orphanet J Rare Dis. 2013 Jan 7;8:3. doi: 10.1186/1750-1172-8-3.

PMID:
23294540
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

SLAC, a complex between Sla1 and Las17, regulates actin polymerization during clathrin-mediated endocytosis.

Feliciano D, Di Pietro SM.

Mol Biol Cell. 2012 Nov;23(21):4256-72. doi: 10.1091/mbc.E11-12-1022. Epub 2012 Sep 12.

PMID:
22973053
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

C. elegans BLOC-1 functions in trafficking to lysosome-related gut granules.

Hermann GJ, Scavarda E, Weis AM, Saxton DS, Thomas LL, Salesky R, Somhegyi H, Curtin TP, Barrett A, Foster OK, Vine A, Erlich K, Kwan E, Rabbitts BM, Warren K.

PLoS One. 2012;7(8):e43043. doi: 10.1371/journal.pone.0043043. Epub 2012 Aug 15.

PMID:
22916203
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Snapin is critical for presynaptic homeostatic plasticity.

Dickman DK, Tong A, Davis GW.

J Neurosci. 2012 Jun 20;32(25):8716-24. doi: 10.1523/JNEUROSCI.5465-11.2012.

PMID:
22723711
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.

Cullinane AR, Curry JA, Golas G, Pan J, Carmona-Rivera C, Hess RA, White JG, Huizing M, Gahl WA.

Pigment Cell Melanoma Res. 2012 Sep;25(5):584-91. doi: 10.1111/j.1755-148X.2012.01029.x. Epub 2012 Aug 2.

PMID:
22709368
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.

Yang Q, He X, Yang L, Zhou Z, Cullinane AR, Wei A, Zhang Z, Hao Z, Zhang A, He M, Feng Y, Gao X, Gahl WA, Huizing M, Li W.

Traffic. 2012 Aug;13(8):1160-9. doi: 10.1111/j.1600-0854.2012.01375.x. Epub 2012 May 28.

PMID:
22554196
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1).

Lee HH, Nemecek D, Schindler C, Smith WJ, Ghirlando R, Steven AC, Bonifacino JS, Hurley JH.

J Biol Chem. 2012 Feb 17;287(8):5882-90. doi: 10.1074/jbc.M111.325746. Epub 2011 Dec 27.

PMID:
22203680
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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 10;88(6):778-87. doi: 10.1016/j.ajhg.2011.05.009.

PMID:
21665000
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Cell biology of the BLOC-1 complex subunit dysbindin, a schizophrenia susceptibility gene.

Mullin AP, Gokhale A, Larimore J, Faundez V.

Mol Neurobiol. 2011 Aug;44(1):53-64. doi: 10.1007/s12035-011-8183-3. Epub 2011 Apr 26. Review.

PMID:
21520000
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Dysbindin-containing complexes and their proposed functions in brain: from zero to (too) many in a decade.

Ghiani CA, Dell'Angelica EC.

ASN Neuro. 2011 May 27;3(2). pii: e00058. doi: 10.1042/AN20110010. Review.

PMID:
21504412
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Yeast homologues of three BLOC-1 subunits highlight KxDL proteins as conserved interactors of BLOC-1.

Hayes MJ, Bryon K, Satkurunathan J, Levine TP.

Traffic. 2011 Mar;12(3):260-8. doi: 10.1111/j.1600-0854.2010.01151.x.

PMID:
21159114
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors.

Yoshimura S, Gerondopoulos A, Linford A, Rigden DJ, Barr FA.

J Cell Biol. 2010 Oct 18;191(2):367-81. doi: 10.1083/jcb.201008051. Epub 2010 Oct 11.

PMID:
20937701
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Functional characterization of Wiskott-Aldrich syndrome protein and scar homolog (WASH), a bi-modular nucleation-promoting factor able to interact with biogenesis of lysosome-related organelle subunit 2 (BLOS2) and gamma-tubulin.

Monfregola J, Napolitano G, D'Urso M, Lappalainen P, Ursini MV.

J Biol Chem. 2010 May 28;285(22):16951-7. doi: 10.1074/jbc.M109.078501. Epub 2010 Mar 22.

PMID:
20308062
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Dysbindin promotes the post-endocytic sorting of G protein-coupled receptors to lysosomes.

Marley A, von Zastrow M.

PLoS One. 2010 Feb 19;5(2):e9325. doi: 10.1371/journal.pone.0009325.

PMID:
20174469
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Regulation of clathrin adaptor function in endocytosis: novel role for the SAM domain.

Di Pietro SM, Cascio D, Feliciano D, Bowie JU, Payne GS.

EMBO J. 2010 Mar 17;29(6):1033-44. doi: 10.1038/emboj.2010.5. Epub 2010 Feb 11.

PMID:
20150898
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus.

Newell-Litwa K, Chintala S, Jenkins S, Pare JF, McGaha L, Smith Y, Faundez V.

J Neurosci. 2010 Jan 20;30(3):820-31. doi: 10.1523/JNEUROSCI.3400-09.2010.

PMID:
20089890
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.

Cheli VT, Daniels RW, Godoy R, Hoyle DJ, Kandachar V, Starcevic M, Martinez-Agosto JA, Poole S, DiAntonio A, Lloyd VK, Chang HC, Krantz DE, Dell'Angelica EC.

Hum Mol Genet. 2010 Mar 1;19(5):861-78. doi: 10.1093/hmg/ddp555. Epub 2009 Dec 16.

PMID:
20015953
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Role of dysbindin in dopamine receptor trafficking and cortical GABA function.

Ji Y, Yang F, Papaleo F, Wang HX, Gao WJ, Weinberger DR, Lu B.

Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19593-8. doi: 10.1073/pnas.0904289106. Epub 2009 Nov 3.

PMID:
19887632
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

N-terminal domains elicit formation of functional Pmel17 amyloid fibrils.

Watt B, van Niel G, Fowler DM, Hurbain I, Luk KC, Stayrook SE, Lemmon MA, Raposo G, Shorter J, Kelly JW, Marks MS.

J Biol Chem. 2009 Dec 18;284(51):35543-55. doi: 10.1074/jbc.M109.047449. Epub .

PMID:
19840945
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth.

Ghiani CA, Starcevic M, Rodriguez-Fernandez IA, Nazarian R, Cheli VT, Chan LN, Malvar JS, de Vellis J, Sabatti C, Dell'Angelica EC.

Mol Psychiatry. 2010 Feb;15(2):115, 204-15. doi: 10.1038/mp.2009.58. Epub 2009 Jun 23.

PMID:
19546860
[PubMed - indexed for MEDLINE]
Free PMC Article
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