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

Molecular Neurobiology

Volumn 44, Issue 1, 2011, Pages 53-64

  Mullin, Ariana P ^a,b   Gokhale, Avanti ^b   Larimore, Jennifer ^b   Faundez, Victor ^a,b  

^a EMORY UNIVERSITY   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

AP 3; BLOC 1; DTNBP1; Dysbindin; Hermansky Pudlak; Schizophrenia

Indexed keywords

DOPAMINE 2 RECEPTOR; DYSBINDIN; LYSOSOME RELATED ORGANELLES COMPLEX 1; MESSENGER RNA; SMALL INTERFERING RNA; SNARE PROTEIN; SYNAPTOPHYSIN; UNCLASSIFIED DRUG;

ARTICLE; CYTOLOGY; CYTOSKELETON; GENETIC CONSERVATION; GENETIC MODEL; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HUMAN; IMMUNOCYTOCHEMISTRY; LOSS OF FUNCTION MUTATION; MOLECULAR INTERACTION; MOLECULAR PHYLOGENY; MONOZYGOTIC TWINS; NEUROANATOMY; NEUROBIOLOGY; NONHUMAN; PATHOLOGICAL ANATOMY; PHENOTYPE; PROTEIN DEFICIENCY; SCHIZOPHRENIA; TRANSCRIPTION REGULATION;

EID: 79960265148     PISSN: 08937648     EISSN: 15591182     Source Type: Journal    
DOI: 10.1007/s12035-011-8183-3     Document Type: Article

References (124)

1. MA Benson SE Newey E Martin-Rendon R Hawkes DJ Blake 2001 Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain J Biol Chem 276 26 24232 24241 11316798 1:CAS:528: DC%2BD3MXltVWisbg%3D
2. Talbot K, Ong WY, Blake DJ, Tang D, Louneva N, Carlson GC et al (2009) Dysbindin-1 and its protein family, with special attention to the potential role of dysbindin-1 in neuronal functions and the pathophysiology of schizophrenia. In: Kantrowitz Ja (ed) Handbook of Neurochemistry and Molecular Neurobiology, vol. 27. Springer Science, New York, pp 107-241
3. RE Straub Y Jiang CJ MacLean Y Ma BT Webb MV Myakishev, et al. 2002 Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia Am J Hum Genet 71 2 337 348 12098102 1:CAS:528:DC%2BD38XlvV2qtb4%3D (Pubitemid 34800250)
4. RE Straub CJ MacLean FA O'Neill J Burke B Murphy F Duke, et al. 1995 A potential vulnerability locus for schizophrenia on chromosome 6p24-22: evidence for genetic heterogeneity Nat Genet 11 3 287 293 7581452 1:CAS:528: DyaK2MXptlSjs7g%3D
5. K Talbot WL Eidem CL Tinsley MA Benson EW Thompson RJ Smith, et al. 2004 Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia J Clin Invest 113 9 1353 1363 15124027 1:CAS:528:DC%2BD2cXjvVOqs7k%3D (Pubitemid 39069934)
6. NC Allen S Bagade MB McQueen JP Ioannidis FK Kavvoura MJ Khoury, et al. 2008 Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database Nat Genet 40 7 827 834 18583979 1:CAS:528:DC%2BD1cXnslKku7w%3D (Pubitemid 351913655)
7. Schizophrenia-Research-Forum. 2010 13 March 2010 [cited; Available from: http://www.schizophreniaforum.org/res/sczgene/default.asp
8. AG Cardno EJ Marshall B Coid AM Macdonald TR Ribchester NJ Davies, et al. 1999 Heritability estimates for psychotic disorders: the Maudsley twin psychosis series Arch Gen Psychiatry 56 2 162 168 10025441 1:STN:280: DyaK1M7kvVejug%3D%3D (Pubitemid 29081391)
9. TD Cannon J Kaprio J Lonnqvist M Huttunen M Koskenvuo 1998 The genetic epidemiology of schizophrenia in a Finnish twin cohort. A population-based modeling study Arch Gen Psychiatry 55 1 67 74 9435762 1:STN:280: DyaK1c%2FpvVSmsw%3D%3D (Pubitemid 28069041)
10. PF Sullivan KS Kendler MC Neale 2003 Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies Arch Gen Psychiatry 60 12 1187 1192 14662550 (Pubitemid 37494071)
11. IS Consortium 2008 Rare chromosomal deletions and duplications increase risk of schizophrenia Nature 455 7210 237 241
12. H Stefansson D Rujescu S Cichon OP Pietilainen A Ingason S Steinberg, et al. 2008 Large recurrent microdeletions associated with schizophrenia Nature 455 7210 232 236 18668039 1:CAS:528:DC%2BD1cXhtV2qtL%2FL
13. D Moreno-De-Luca JG Mulle EB Kaminsky SJ Sanders SM Myers MP Adam, et al. 2010 Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia Am J Hum Genet 87 5 618 630 21055719 1:CAS:528:DC%2BC3cXhsVaitLnK
14. M Karayiorgou TJ Simon JA Gogos 2010 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia Nat Rev Neurosci 11 6 402 416 20485365 1:CAS:528:DC%2BC3cXmt1OjtrY%3D
15. JG Mulle AF Dodd JA McGrath PS Wolyniec AA Mitchell AC Shetty, et al. 2010 Microdeletions of 3q29 confer high risk for schizophrenia Am J Hum Genet 87 2 229 236 20691406 1:CAS:528:DC%2BC3cXpvFWrs7c%3D
16. A Ingason D Rujescu S Cichon E Sigurdsson T Sigmundsson OP Pietilainen, et al. 2010 Copy number variations of chromosome 16p13.1 region associated with schizophrenia Mol Psychiatry 16 1 17 25
17. SE McCarthy V Makarov G Kirov AM Addington J McClellan S Yoon, et al. 2009 Microduplications of 16p11.2 are associated with schizophrenia Nat Genet 41 11 1223 1227 19855392 1:CAS:528:DC%2BD1MXhtlSqsLfL
18. NJ Brandon JK Millar C Korth H Sive KK Singh A Sawa 2009 Understanding the role of disc1 in psychiatric disease and during normal development J Neurosci 29 41 12768 12775 19828788 1:CAS:528:DC%2BD1MXhtlSit7bN
19. J Gauthier N Champagne RG Lafreniere L Xiong D Spiegelman E Brustein, et al. 2010 De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia Proc Natl Acad Sci USA 107 17 7863 7868 20385823 1:CAS:528:DC%2BC3cXlsFyiurY%3D
20. J Tarabeux N Champagne E Brustein FF Hamdan J Gauthier M Lapointe, et al. 2010 De novo truncating mutation in kinesin 17 associated with schizophrenia Biol Psychiatry 68 7 649 656 20646681 1:CAS:528:DC%2BC3cXhtFOntb%2FO
21. II Gottesman J Shields 1967 A polygenic theory of schizophrenia Proc Natl Acad Sci USA 58 1 199 205 5231600 1:STN:280:DyaF2s3hsF2mtA%3D%3D
22. N Risch 1990 Linkage strategies for genetically complex traits. I. Multilocus models Am J Hum Genet 46 2 222 228 2301392 1:STN:280: DyaK3c7ksVOgsw%3D%3D
23. SM Purcell NR Wray JL Stone PM Visscher MC O'Donovan PF Sullivan, et al. 2009 Common polygenic variation contributes to risk of schizophrenia and bipolar disorder Nature 460 7256 748 752 19571811 1:CAS:528:DC%2BD1MXotVSgtLg%3D
24. JP Ioannidis P Boffetta J Little TR O'Brien AG Uitterlinden P Vineis, et al. 2008 Assessment of cumulative evidence on genetic associations: interim guidelines Int J Epidemiol 37 1 120 132 17898028 (Pubitemid 351228620)
25. Dwyer S, Carroll L, Mantripragada KK et al. Mutation screening of the DTNBP1 exonic sequence in 669 schizophrenics and 710 controls using high-resolution melting analysis. Am J Med Genet B Neuropsychiatr Genet 153B(3): 766-774
26. W Li Q Zhang N Oiso EK Novak R Gautam EP O'Brien, et al. 2003 Hermansky-Pudlak Syndrome Type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) Nat Genet 35 1 84 89 12923531 1:CAS:528:DC%2BD3sXmslemu7c%3D (Pubitemid 37048600)
27. SG Schwab M Knapp S Mondabon J Hallmayer M Borrmann-Hassenbach M Albus, et al. 2003 Support for association of schizophrenia with genetic variation in the 6p22.3 gene, dysbindin, in sib-pair families with linkage and in an additional sample of triad families Am J Hum Genet 72 1 185 190 12474144 1:CAS:528:DC%2BD3sXis1ynsA%3D%3D (Pubitemid 36056855)
28. NM Williams A Preece DW Morris G Spurlock NJ Bray M Stephens, et al. 2004 Identification in 2 independent samples of a novel schizophrenia risk haplotype of the dystrobrevin binding protein gene (DTNBP1) Arch Gen Psychiatry 61 4 336 344 15066891 1:CAS:528:DC%2BD2cXjslShtL0%3D (Pubitemid 38451542)
29. DW Morris KA McGhee S Schwaiger P Scully J Quinn D Meagher, et al. 2003 No evidence for association of the dysbindin gene [DTNBP1] with schizophrenia in an Irish population-based study Schizophr Res 60 2-3 167 172 12591580 (Pubitemid 36184707)
30. M Mutsuddi DW Morris SG Waggoner MJ Daly EM Scolnick P Sklar 2006 Analysis of high-resolution HapMap of DTNBP1 (dysbindin) suggests no consistency between reported common variant associations and schizophrenia Am J Hum Genet 79 5 903 909 17033966 1:CAS:528:DC%2BD28XhtFygs7zN (Pubitemid 44763404)
31. K Peters S Wiltshire AK Henders M Dragovic JC Badcock D Chandler, et al. 2008 Comprehensive analysis of tagging sequence variants in DTNBP1 shows no association with schizophrenia or with its composite neurocognitive endophenotypes Am J Med Genet B Neuropsychiatr Genet 147B 7 1159 1166 18314870 1:CAS:528:DC%2BD1cXht12ru7vN
32. J Strohmaier J Frank JR Wendland J Schumacher RA Jamra J Treutlein, et al. 2010 A reappraisal of the association between dysbindin (DTNBP1) and schizophrenia in a large combined case-control and family-based sample of German ancestry Schizophr Res 118 1-3 98 105 20083391
33. JA Turunen JO Peltonen OP Pietilainen W Hennah A Loukola T Paunio, et al. 2007 The role of DTNBP1, NRG1, and AKT1 in the genetics of schizophrenia in Finland Schizophr Res 91 1-3 27 36 17300918 (Pubitemid 46335850)
34. B Abazyan J Nomura G Kannan K Ishizuka KL Tamashiro F Nucifora, et al. 2010 Prenatal interaction of mutant DISC1 and immune activation produces adult psychopathology Biol Psychiatry 68 12 1172 1181 21130225 1:CAS:528: DC%2BC3cXhsFWqtbnJ
35. AY Guo J Sun BP Riley DL Thiselton KS Kendler Z Zhao 2009 The dystrobrevin-binding protein 1 gene: features and networks Mol Psychiatry 14 1 18 29 18663367 1:CAS:528:DC%2BD1cXhsFWku7zL
36. J Tang RP LeGros N Louneva L Yeh JW Cohen CG Hahn, et al. 2009 Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression Hum Mol Genet 18 20 3851 3863 19617633 1:CAS:528:DC%2BD1MXhtFyhurfK
37. K Talbot N Louneva JW Cohen H Kazi DJ Blake SE Arnold 2011 Synaptic dysbindin-1 reductions in schizophrenia occur in an isoform-specific manner indicating their subsynaptic location PLoS ONE 6 3 e16886 21390302 1:CAS:528:DC%2BC3MXjtFejtbc%3D
38. NJ Bray A Preece NM Williams V Moskvina PR Buckland MJ Owen, et al. 2005 Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression Hum Mol Genet 14 14 1947 1954 15917270 1:CAS:528:DC%2BD2MXlslyjsrY%3D (Pubitemid 41418031)
39. CS Weickert DA Rothmond TM Hyde JE Kleinman RE Straub 2008 Reduced DTNBP1 (dysbindin-1) mRNA in the hippocampal formation of schizophrenia patients Schizophr Res 98 1-3 105 110 17961984 (Pubitemid 350245587)
40. CS Weickert RE Straub BW McClintock M Matsumoto R Hashimoto TM Hyde, et al. 2004 Human dysbindin (DTNBP1) gene expression in normal brain and in schizophrenic prefrontal cortex and midbrain Arch Gen Psychiatry 61 6 544 555 15184234 1:CAS:528:DC%2BD2cXlsFCju7Y%3D (Pubitemid 38747309)
41. G Donohoe T Frodl D Morris I Spoletini DM Cannon A Cherubini, et al. 2010 Reduced occipital and prefrontal brain volumes in dysbindin-associated schizophrenia Neuropsychopharmacology 35 2 368 373 19794403
42. G Donohoe DW Morris S Clarke KA McGhee S Schwaiger JM Nangle, et al. 2007 Variance in neurocognitive performance is associated with dysbindin-1 in schizophrenia: a preliminary study Neuropsychologia 45 2 454 458 16930638 (Pubitemid 44828767)
43. G Donohoe DW Morris P De Sanctis E Magno JL Montesi HP Garavan, et al. 2008 Early visual processing deficits in dysbindin-associated schizophrenia Biol Psychiatry 63 5 484 489 17945199 (Pubitemid 351220791)
44. KL Narr PR Szeszko T Lencz RP Woods LS Hamilton O Phillips, et al. 2009 DTNBP1 is associated with imaging phenotypes in schizophrenia Hum Brain Mapp 30 11 3783 3794 19449336
45. AJ Fallgatter MJ Herrmann C Hohoff AC Ehlis TA Jarczok CM Freitag, et al. 2006 DTNBP1 (dysbindin) gene variants modulate prefrontal brain function in healthy individuals Neuropsychopharmacology 31 9 2002 2010 16407900 1:CAS:528:DC%2BD28XotFKluro%3D
46. V Markov A Krug S Krach C Whitney T Eggermann K Zerres, et al. 2009 Genetic variation in schizophrenia-risk-gene dysbindin 1 modulates brain activation in anterior cingulate cortex and right temporal gyrus during language production in healthy individuals Neuroimage 47 4 2016 2022 19497374 1:STN:280:DC%2BD1MritlSrsw%3D%3D
47. A Mechelli E Viding A Kumar W Pettersson-Yeo P Fusar-Poli S Tognin, et al. 2010 Dysbindin modulates brain function during visual processing in children Neuroimage 49 1 817 822 19631276 1:STN:280:DC%2BD1MjgtVeqtg%3D%3D
48. Wolf C, Jackson MC, Kissling C et al. (2011) Dysbindin-1 genotype effects on emotional working memory. Mol Psychiatry 16(2):145-155
49. CA Ghiani M Starcevic IA Rodriguez-Fernandez R Nazarian VT Cheli LN Chan, et al. 2010 The dysbindin-containing Complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth Mol Psychiatry 15 2 115, 204 215
50. M Starcevic EC Dell'Angelica 2004 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) J Biol Chem 279 27 28393 28401 15102850 1:CAS:528:DC%2BD2cXlt1Clu7s%3D (Pubitemid 38900119)
51. SM Di Pietro EC Dell'Angelica 2005 The cell biology of Hermansky-Pudlak syndrome: recent advances Traffic 6 7 525 533 15941404 (Pubitemid 40872355)
52. VT Cheli RW Daniels R Godoy DJ Hoyle V Kandachar M Starcevic, et al. 2010 Genetic modifiers of abnormal organelle biogenesis in a drosophila model of BLOC-1 deficiency Hum Mol Genet 19 5 861 878 20015953 1:CAS:528: DC%2BC3cXhs1KgtLo%3D
53. R Nazarian M Starcevic MJ Spencer EC Dell'Angelica 2006 Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein Biochem J 395 3 587 598 16448387 1:CAS:528:DC%2BD28XjtlCgsbc%3D
54. YQ Feng ZY Zhou X He H Wang XL Guo CJ Hao, et al. 2008 Dysbindin deficiency in sandy mice causes reduction of snapin and displays behaviors related to schizophrenia Schizophr Res 106 2-3 218 228 18774265
55. W Li ME Rusiniak S Chintala R Gautam EK Novak RT Swank 2004 Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles BioEssays 26 6 616 628 15170859 1:CAS:528:DC%2BD2cXltlGjtbw%3D (Pubitemid 38758339)
56. ML Wei 2006 Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function Pigment Cell Res 19 1 19 42 16420244 1:CAS:528: DC%2BD28XjtVCqs7w%3D
57. NV Morgan S Pasha CA Johnson JR Ainsworth RA Eady B Dawood, et al. 2006 A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak Syndrome (HPS8) Am J Hum Genet 78 1 160 166 16385460 1:CAS:528:DC%2BD28XhslKrug%3D%3D (Pubitemid 41833170)
58. K Talbot 2009 The sandy (sdy) mouse: a dysbindin-1 mutant relevant to schizophrenia research Prog Brain Res 179 87 94 20302821 1:CAS:528: DC%2BC3cXhtFekt7s%3D
59. DK Dickman GW Davis 2009 The schizophrenia susceptibility gene dysbindin controls synaptic homeostasis Science 326 5956 1127 1130 19965435 1:CAS:528:DC%2BD1MXhsVentLjO
60. K Newell-Litwa S Chintala S Jenkins JF Pare L McGaha Y Smith, et al. 2010 Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus J Neurosci 30 3 820 831 20089890 1:CAS:528:DC%2BC3cXhtlKmtLg%3D
61. K Newell-Litwa G Salazar Y Smith V Faundez 2009 Roles of BLOC-1 and AP-3 complexes in cargo sorting to synaptic vesicles Mol Biol Cell 20 5 1441 1453 19144828 1:CAS:528:DC%2BD1MXlsFyis7s%3D
62. DW Morris K Murphy N Kenny SM Purcell KA McGhee S Schwaiger, et al. 2008 Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility Biol Psychiatry 63 1 24 31 17618940 1:CAS:528:DC%2BD2sXhsVCgur%2FJ (Pubitemid 350234879)
63. A Gerrish H Williams V Moskvina MJ Owen MC O'Donovan NM Williams 2009 An examination of MUTED as a schizophrenia susceptibility gene Schizophr Res 107 1 110 111 18815010 1:STN:280:DC%2BD1M%2FmtFCmtg%3D%3D
64. W Li Y Feng C Hao X Guo Y Cui M He, et al. 2007 The BLOC interactomes form a network in endosomal transport J Genet Genomics 34 8 669 682 17707211 1:CAS:528:DC%2BD2sXhtVWqsLzK (Pubitemid 47247616)
65. IA Rodriguez-Fernandez EC Dell'Angelica 2009 A data-mining approach to rank candidate protein-binding partners-The case of biogenesis of lysosome-related organelles complex-1 (BLOC-1) J Inherit Metab Dis 32 2 190 203 19083121 1:STN:280:DC%2BD1M3ltVGrtA%3D%3D
66. CL Mead MA Kuzyk A Moradian GM Wilson RA Holt GB Morin 2010 Cytosolic protein interactions of the schizophrenia susceptibility gene dysbindin J Neurochem 113 6 1491 1503 20236384 1:CAS:528:DC%2BC3cXnvFaktb0%3D
67. Fei E, Ma X, Zhu C et al. (2010) Nucleocytoplasmic shuttling of dysbindin-1, a schizophrenia related protein, regulates synapsin I expression. J Biol Chem 285(49):38630-38640
68. H Okuda R Kuwahara S Matsuzaki S Miyata N Kumamoto T Hattori, et al. 2010 Dysbindin regulates the transcriptional level of myristoylated alanine-rich protein kinase C substrate via the interaction with NF-YB in mice brain PLoS ONE 5 1 e8773 20098743
69. S Oyama H Yamakawa N Sasagawa Y Hosoi E Futai S Ishiura 2009 Dysbindin-1, a schizophrenia-related protein, functionally interacts with the DNA-dependent protein kinase complex in an isoform-dependent manner PLoS ONE 4 1 e4199 19142223
70. T Numakawa Y Yagasaki T Ishimoto T Okada T Suzuki N Iwata, et al. 2004 Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia Hum Mol Genet 13 21 2699 2708 15345706 1:CAS:528: DC%2BD2cXovVOis7c%3D (Pubitemid 39485418)
71. F Cesca P Baldelli F Valtorta F Benfenati 2010 The synapsins: key actors of synapse function and plasticity Prog Neurobiol 91 4 313 348 20438797 1:STN:280:DC%2BC3cnkvFGhuw%3D%3D
72. Ito H, Morishita R, Shinoda T et al. Dysbindin-1, WAVE2 and Abi-1 form a complex that regulates dendritic spine formation. Mol Psychiatry 15(10): 976-986
73. JM Falcon-Perez M Starcevic R Gautam EC Dell'Angelica 2002 BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules J Biol Chem 277 31 28191 28199 12019270 1:CAS:528:DC%2BD38XlvFKgu74%3D (Pubitemid 34966773)
74. K Kubota N Kumamoto S Matsuzaki R Hashimoto T Hattori H Okuda, et al. 2009 Dysbindin engages in c-Jun N-terminal kinase activity and cytoskeletal organization Biochem Biophys Res Commun 379 2 191 195 19094965 1:CAS:528:DC%2BD1MXotlyluw%3D%3D
75. K Newell-Litwa E Seong M Burmeister V Faundez 2007 Neuronal and non-neuronal functions of the AP-3 sorting machinery J Cell Sci 120 Pt 4 531 541 17287392 1:CAS:528:DC%2BD2sXjsF2rtLs%3D (Pubitemid 46437888)
76. Dell'angelica EC (2009). AP-3-dependent trafficking and disease: the first decade. Curr Opin Cell Biol 21(4):552-559
77. JS Bonifacino LM Traub 2003 Signals for sorting of transmembrane proteins to endosomes and lysosomes Annu Rev Biochem 72 395 447 12651740 1:CAS:528:DC%2BD3sXntFSgtLc%3D (Pubitemid 36930451)
78. MS Robinson 2004 Adaptable adaptors for coated vesicles Trends Cell Biol 14 4 167 174 15066634 1:CAS:528:DC%2BD2cXivVGjt7w%3D (Pubitemid 38447116)
79. G Salazar B Craige ML Styers KA Newell-Litwa MM Doucette BH Wainer, et al. 2006 BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes Mol Biol Cell 17 9 4014 4026 16760431 1:CAS:528: DC%2BD28Xpt1aksrw%3D (Pubitemid 44330884)
80. SM Di Pietro JM Falcon-Perez D Tenza SR Setty MS Marks G Raposo, et al. 2006 BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes Mol Biol Cell 17 9 4027 4038 16837549 (Pubitemid 44330885)
81. SR Setty D Tenza ST Truschel E Chou EV Sviderskaya AC Theos, et al. 2007 BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles Mol Biol Cell 18 3 768 780 17182842 1:CAS:528:DC%2BD2sXivV2jsb4%3D (Pubitemid 46399484)
82. T Baust M Anitei C Czupalla I Parshyna L Bourel C Thiele, et al. 2008 Protein networks supporting AP-3 function in targeting lysosomal membrane proteins Mol Biol Cell 19 5 1942 1951 18287518 1:CAS:528:DC%2BD1cXlslels74%3D
83. K Janvier JS Bonifacino 2005 Role of the endocytic machinery in the sorting of lysosome-associated membrane proteins Mol Biol Cell 16 9 4231 4242 15987739 1:CAS:528:DC%2BD2MXpvFKlsbo%3D (Pubitemid 41262892)
84. R Le Borgne A Alconada U Bauer B Hoflack 1998 The mammalian AP-3 adaptor-like complex mediates the intracellular transport of lysosomal membrane glycoproteins J Biol Chem 273 45 29451 29461 9792650 (Pubitemid 28509949)
85. Y Iizuka Y Sei DR Weinberger RE Straub 2007 Evidence that the BLOC-1 protein dysbindin modulates dopamine D2 receptor internalization and signaling but not D1 internalization J Neurosci 27 45 12390 12395 17989303 1:CAS:528:DC%2BD2sXhtlartLbP (Pubitemid 350085456)
86. Y Ji F Yang F Papaleo HX Wang WJ Gao DR Weinberger, et al. 2009 Role of dysbindin in dopamine receptor trafficking and cortical GABA function Proc Natl Acad Sci USA 106 46 19593 19598 19887632 1:CAS:528:DC%2BD1MXhsFGitL%2FJ
87. TT Tang F Yang BS Chen Y Lu Y Ji KW Roche, et al. 2009 Dysbindin regulates hippocampal LTP by controlling NMDA receptor surface expression Proc Natl Acad Sci USA 106 50 21395 21400 19955431 1:CAS:528:DC%2BC3cXjvFGqsLg%3D
88. A Marley M von Zastrow 2010 Dysbindin promotes the post-endocytic sorting of G protein-coupled receptors to lysosomes PLoS ONE 5 2 e9325 20174469
89. CS Asensio DW Sirkis RH Edwards 2010 RNAi screen identifies a role for adaptor protein AP-3 in sorting to the regulated secretory pathway J Cell Biol 191 6 1173 1187 21149569 1:CAS:528:DC%2BC3cXhs1SmurfF
90. CP Grabner SD Price A Lysakowski AL Cahill AP Fox 2006 Regulation of large dense-core vesicle volume and neurotransmitter content mediated by adaptor protein 3 Proc Natl Acad Sci USA 103 26 10035 10040 16788073 1:CAS:528:DC%2BD28XmvVajurc%3D (Pubitemid 43993618)
91. G Salazar S Zlatic B Craige AA Peden J Pohl V Faundez 2009 Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells J Biol Chem 284 3 1790 1802 19010779 1:CAS:528:DC%2BD1MXjtFOgsw%3D%3D
92. R Hashimoto K Ohi T Okada Y Yasuda H Yamamori H Hori, et al. 2009 Association analysis between schizophrenia and the AP-3 complex genes Neurosci Res 65 1 113 115 19481122 1:CAS:528:DC%2BD1MXoslWlu74%3D
93. T Hikita S Taya Y Fujino S Taneichi-Kuroda K Ohta D Tsuboi, et al. 2009 Proteomic analysis reveals novel binding partners of dysbindin, a schizophrenia-related protein J Neurochem 110 5 1567 1574 19573021 1:CAS:528:DC%2BD1MXhtVyntb3K
94. S Taneichi-Kuroda S Taya T Hikita Y Fujino K Kaibuchi 2009 Direct interaction of dysbindin with the AP-3 complex via its mu subunit Neurochem Int 54 7 431 438 19428785 1:CAS:528:DC%2BD1MXktF2ltrs%3D
95. JS Bonifacino BS Glick 2004 The mechanisms of vesicle budding and fusion Cell 116 2 153 166 14744428 1:CAS:528:DC%2BD2cXhtValsro%3D (Pubitemid 38167309)
96. V Faundez JT Horng RB Kelly 1998 A function for the AP3 coat complex in synaptic vesicle formation from endosomes Cell 93 3 423 432 9590176 1:CAS:528:DyaK1cXjtFCjtLc%3D (Pubitemid 28232086)
97. CE Ooi EC Dell'Angelica JS Bonifacino 1998 ADP-ribosylation factor 1 (ARF1) regulates recruitment of the AP-3 adaptor complex to membranes J Cell Biol 142 2 391 402 9679139 1:CAS:528:DyaK1cXltFGqsrY%3D (Pubitemid 28361547)
98. GH Borner M Harbour S Hester KS Lilley MS Robinson 2006 Comparative proteomics of clathrin-coated vesicles J Cell Biol 175 4 571 578 17116749 1:CAS:528:DC%2BD28Xht1GksbjM (Pubitemid 44790611)
99. G Salazar B Craige BH Wainer J Guo P De Camilli V Faundez 2005 Phosphatidylinositol-4-kinase type II alpha is a component of adaptor protein-3-derived vesicles Mol Biol Cell 16 8 3692 3704 15944223 1:CAS:528:DC%2BD2MXosVCnsrs%3D (Pubitemid 41077079)
100. B Craige G Salazar V Faundez 2008 Phosphatidylinositol-4-kinase type II alpha contains an AP-3 sorting motif and a kinase domain that are both required for endosome traffic Mol Biol Cell 19 1415 1426 18256276 1:CAS:528: DC%2BD1cXlslemt7c%3D (Pubitemid 351805096)
101. ML Perreault A Hasbi M Alijaniaram T Fan G Varghese PJ Fletcher, et al. 2010 The dopamine D1-D2 receptor heteromer localizes in dynorphin/enkephalin neurons: increased high affinity state following amphetamine and in schizophrenia J Biol Chem 285 47 36625 36634 20864528 1:CAS:528: DC%2BC3cXhsVWgsr3L
102. OD Howes S Kapur 2009 The dopamine hypothesis of schizophrenia: Version III-the final common pathway Schizophr Bull 35 3 549 562 19325164
103. C De Mei M Ramos C Iitaka E Borrelli 2009 Getting specialized: presynaptic and postsynaptic dopamine D2 receptors Curr Opin Pharmacol 9 1 53 58 19138563
104. E Mengual VM Pickel 2002 Ultrastructural immunocytochemical localization of the dopamine D2 receptor and tyrosine hydroxylase in the rat ventral pallidum Synapse 43 3 151 162 11793420 1:CAS:528:DC%2BD38XosFKluw%3D%3D (Pubitemid 34087669)
105. H Wang VM Pickel 2002 Dopamine D2 receptors are present in prefrontal cortical afferents and their targets in patches of the rat caudate-putamen nucleus J Comp Neurol 442 4 392 404 11793342 1:CAS:528:DC%2BD38XlvFCnug%3D%3D (Pubitemid 34027519)
106. NS Bamford H Zhang Y Schmitz NP Wu C Cepeda MS Levine, et al. 2004 Heterosynaptic dopamine neurotransmission selects sets of corticostriatal terminals Neuron 42 4 653 663 15157425 1:CAS:528:DC%2BD2cXkvVyltLY%3D (Pubitemid 38639883)
107. AI Levey SM Hersch DB Rye RK Sunahara HB Niznik CA Kitt, et al. 1993 Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies Proc Natl Acad Sci USA 90 19 8861 8865 8415621 1:CAS:528: DyaK3sXmtFyisL8%3D (Pubitemid 23306410)
108. SR Sesack C Aoki VM Pickel 1994 Ultrastructural localization of D2 receptor-like immunoreactivity in midbrain dopamine neurons and their striatal targets J Neurosci 14 1 88 106 7904306 1:CAS:528:DyaK2cXps1KqsA%3D%3D
109. Setty SR, Tenza D, Sviderskaya EV et al. (2008) Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes. Nature 454(7208):1142-1146
110. R Jahn RH Scheller 2006 SNAREs-engines for membrane fusion Nat Rev Mol Cell Biol 7 9 631 643 16912714 1:CAS:528:DC%2BD28Xot12ju7g%3D
111. W Wickner R Schekman 2008 Membrane fusion Nat Struct Mol Biol 15 7 658 664 18618939 1:CAS:528:DC%2BD1cXotVeqtLk%3D (Pubitemid 351932008)
112. C Brocker S Engelbrecht-Vandre C Ungermann 2010 Multisubunit tethering complexes and their role in membrane fusion Curr Biol 20 21 R943 R952 21056839
113. TC Sudhof JE Rothman 2009 Membrane fusion: grappling with SNARE and SM proteins Science 323 5913 474 477 19164740
114. L Huang YM Kuo J Gitschier 1999 The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency Nat Genet 23 3 329 332 10610180 1:CAS:528:DyaK1MXnt1Gns7s%3D (Pubitemid 29526432)
115. L Lu Q Cai JH Tian ZH Sheng 2009 Snapin associates with late endocytic compartments and interacts with late endosomal snares Biosci Rep 29 4 261 269 19335339 1:CAS:528:DC%2BD1MXmvFehtrc%3D
116. Y Bao JA Lopez DE James W Hunziker 2008 Snapin interacts with the Exo70 subunit of the exocyst and modulates GLUT4 trafficking J Biol Chem 283 1 324 331 17947242 1:CAS:528:DC%2BD1cXhtVOktA%3D%3D
117. JM Ilardi S Mochida ZH Sheng 1999 Snapin: a SNARE-associated protein implicated in synaptic transmission Nat Neurosci 2 2 119 124 10195194 1:CAS:528:DyaK1MXhsl2nsLk%3D (Pubitemid 30491310)
118. P Buxton XM Zhang B Walsh A Sriratana I Schenberg E Manickam, et al. 2003 Identification and characterization of snapin as a ubiquitously expressed SNARE-binding protein that interacts with SNAP23 in non-neuronal cells Biochem J 375 Pt 2 433 440 12877659 1:CAS:528:DC%2BD3sXnvF2rsL4%3D (Pubitemid 37315451)
119. JH Tian ZX Wu M Unzicker L Lu Q Cai C Li, et al. 2005 The role of snapin in neurosecretion: snapin knock-out mice exhibit impaired calcium-dependent exocytosis of large dense-core vesicles in chromaffin cells J Neurosci 25 45 10546 10555 16280592 1:CAS:528:DC%2BD2MXht1KgtbjM (Pubitemid 41628456)
120. PY Pan JH Tian ZH Sheng 2009 Snapin facilitates the synchronization of synaptic vesicle fusion Neuron 61 3 412 424 19217378 1:CAS:528: DC%2BD1MXltFSntLY%3D
121. XW Chen YQ Feng CJ Hao XL Guo X He ZY Zhou, et al. 2008 DTNBP1, a schizophrenia susceptibility gene, affects kinetics of transmitter release J Cell Biol 181 5 791 801 18504299 1:CAS:528:DC%2BD1cXntVClt78%3D (Pubitemid 351786984)
122. T Nagai Y Kitahara A Shiraki T Hikita S Taya K Kaibuchi, et al. 2010 Dysfunction of dopamine release in the prefrontal cortex of dysbindin deficient sandy mice: an in vivo microdialysis study Neurosci Lett 470 2 134 138 20045719 1:CAS:528:DC%2BC3cXhtVKitLw%3D
123. S Schoch F Deak A Konigstorfer M Mozhayeva Y Sara TC Sudhof, et al. 2001 SNARE function analyzed in synaptobrevin/VAMP knockout mice Science 294 5544 1117 1122 11691998 1:CAS:528:DC%2BD3MXot1Kru78%3D (Pubitemid 33041870)
124. P Washbourne PM Thompson M Carta ET Costa JR Mathews G Lopez-Bendito, et al. 2002 Genetic ablation of the t-SNARE SNAP-25 distinguishes mechanisms of neuroexocytosis Nat Neurosci 5 1 19 26 11753414 1:CAS:528:DC%2BD38XjtlCqtQ%3D%3D (Pubitemid 34038778)