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Items: 20

1.

The BLOC-1 Subunit Pallidin Facilitates Activity-Dependent Synaptic Vesicle Recycling.

Chen X, Ma W, Zhang S, Paluch J, Guo W, Dickman DK.

eNeuro. 2017 Feb 8;4(1). pii: ENEURO.0335-16.2017. doi: 10.1523/ENEURO.0335-16.2017. eCollection 2017 Jan-Feb.

2.

Pallidin protein in neurodevelopment and its relation to the pathogenesis of schizophrenia.

Shi Q, Li C, Li K, Liu Q.

Mol Med Rep. 2017 Feb;15(2):665-672. doi: 10.3892/mmr.2016.6064. Epub 2016 Dec 21.

3.

The Proteome of BLOC-1 Genetic Defects Identifies the Arp2/3 Actin Polymerization Complex to Function Downstream of the Schizophrenia Susceptibility Factor Dysbindin at the Synapse.

Gokhale A, Hartwig C, Freeman AH, Das R, Zlatic SA, Vistein R, Burch A, Carrot G, Lewis AF, Nelms S, Dickman DK, Puthenveedu MA, Cox DN, Faundez V.

J Neurosci. 2016 Dec 7;36(49):12393-12411.

4.

Gene dosage in the dysbindin schizophrenia susceptibility network differentially affect synaptic function and plasticity.

Mullin AP, Sadanandappa MK, Ma W, Dickman DK, VijayRaghavan K, Ramaswami M, Sanyal S, Faundez V.

J Neurosci. 2015 Jan 7;35(1):325-38. doi: 10.1523/JNEUROSCI.3542-14.2015.

5.

Discovery Genetics - The History and Future of Spontaneous Mutation Research.

Davisson MT, Bergstrom DE, Reinholdt LG, Donahue LR.

Curr Protoc Mouse Biol. 2012 Jun 1;2:103-118.

6.

Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes.

Larimore J, Zlatic SA, Gokhale A, Tornieri K, Singleton KS, Mullin AP, Tang J, Talbot K, Faundez V.

J Biol Chem. 2014 May 16;289(20):14291-300. doi: 10.1074/jbc.M114.553750. Epub 2014 Apr 8.

7.

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. doi: 10.1371/journal.pone.0042446. Epub 2012 Sep 11.

8.

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.

9.

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.

10.

Mutation in archain 1, a subunit of COPI coatomer complex, causes diluted coat color and Purkinje cell degeneration.

Xu X, Kedlaya R, Higuchi H, Ikeda S, Justice MJ, Setaluri V, Ikeda A.

PLoS Genet. 2010 May 20;6(5):e1000956. doi: 10.1371/journal.pgen.1000956.

11.

Analysis of novel sph (spherocytosis) alleles in mice reveals allele-specific loss of band 3 and adducin in alpha-spectrin-deficient red cells.

Robledo RF, Lambert AJ, Birkenmeier CS, Cirlan MV, Cirlan AF, Campagna DR, Lux SE, Peters LL.

Blood. 2010 Mar 4;115(9):1804-14. doi: 10.1182/blood-2009-07-232199. Epub 2010 Jan 7.

12.

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.

13.

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.

14.

Dysbindin-1, a schizophrenia-related protein, functionally interacts with the DNA- dependent protein kinase complex in an isoform-dependent manner.

Oyama S, Yamakawa H, Sasagawa N, Hosoi Y, Futai E, Ishiura S.

PLoS One. 2009;4(1):e4199. doi: 10.1371/journal.pone.0004199. Epub 2009 Jan 14.

15.

Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes.

Setty SR, Tenza D, Sviderskaya EV, Bennett DC, Raposo G, Marks MS.

Nature. 2008 Aug 28;454(7208):1142-6. doi: 10.1038/nature07163. Epub 2008 Jul 23.

16.

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. 2007 Mar;18(3):768-80. Epub 2006 Dec 20. Erratum in: Mol Biol Cell. 2017 Feb 1;28(3):500.

17.

Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes.

Wasmeier C, Romao M, Plowright L, Bennett DC, Raposo G, Seabra MC.

J Cell Biol. 2006 Oct 23;175(2):271-81. Epub 2006 Oct 16.

18.
19.

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RA, Dawood B, McKeown C, Trembath RC, Wilde J, Watson SP, Maher ER.

Am J Hum Genet. 2006 Jan;78(1):160-6. Epub 2005 Nov 28.

20.

Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells.

Chintala S, Li W, Lamoreux ML, Ito S, Wakamatsu K, Sviderskaya EV, Bennett DC, Park YM, Gahl WA, Huizing M, Spritz RA, Ben S, Novak EK, Tan J, Swank RT.

Proc Natl Acad Sci U S A. 2005 Aug 2;102(31):10964-9. Epub 2005 Jul 21.

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