Dtnbp1

Summary

Gene Symbol: Dtnbp1
Description: dystrobrevin binding protein 1
Alias: 5430437B18Rik, AW048963, Bloc1s8, dysbindin, sdy, dysbindin, BLOC-1 subunit 8, HPS7 protein homolog, biogenesis of lysosome-related organelles complex 1 subunit 8, dysbindin-1, hermansky-Pudlak syndrome 7 protein homolog, sandy
Species: mouse
Products:     Dtnbp1

Top Publications

  1. Straub R, Jiang Y, MacLean C, Ma Y, Webb B, Myakishev M, et al. Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia. Am J Hum Genet. 2002;71:337-48 pubmed
    ..this region, single-nucleotide polymorphisms within the 140-kb gene DTNBP1 (dystrobrevin-binding protein 1, or dysbindin) are strongly associated with schizophrenia...
  2. Sillitoe R, Benson M, Blake D, Hawkes R. Abnormal dysbindin expression in cerebellar mossy fiber synapses in the mdx mouse model of Duchenne muscular dystrophy. J Neurosci. 2003;23:6576-85 pubmed
    ..b>Dysbindin is a novel component of the DPC, which binds to beta-dystrobrevin and may serve as an adaptor protein that links ..
  3. Chen X, Feng Y, Hao C, Guo X, He X, Zhou Z, et al. DTNBP1, a schizophrenia susceptibility gene, affects kinetics of transmitter release. J Cell Biol. 2008;181:791-801 pubmed publisher
    ..The dystrobrevin-binding protein 1 (DTNBP1) gene, which encodes a coiled-coil protein, dysbindin, is a major susceptibility gene for schizophrenia...
  4. Okuda H, Kuwahara R, Matsuzaki S, Miyata S, Kumamoto N, Hattori T, et al. Dysbindin regulates the transcriptional level of myristoylated alanine-rich protein kinase C substrate via the interaction with NF-YB in mice brain. PLoS ONE. 2010;5:e8773 pubmed publisher
    An accumulating body of evidence suggests that Dtnbp1 (Dysbindin) is a key susceptibility gene for schizophrenia...
  5. Ji Y, Yang F, Papaleo F, Wang H, Gao W, Weinberger D, et al. Role of dysbindin in dopamine receptor trafficking and cortical GABA function. Proc Natl Acad Sci U S A. 2009;106:19593-8 pubmed publisher
    b>Dysbindin has been implicated in the pathogenesis of schizophrenia, but little is known about how dysbindin affects neuronal function in the circuitry underlying psychosis and related behaviors...
  6. Numakawa T, Yagasaki Y, Ishimoto T, Okada T, Suzuki T, Iwata N, et al. Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia. Hum Mol Genet. 2004;13:2699-708 pubmed
    Genetic variation in dysbindin (DTNBP1: dystrobrevin-binding protein 1) has recently been shown to be associated with schizophrenia. The dysbindin gene is located at chromosome 6p22...
  7. Di Pietro S, Falcon Perez J, Tenza D, Setty S, Marks M, Raposo G, et al. BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Mol Biol Cell. 2006;17:4027-38 pubmed
    ..These findings support the idea that BLOC-1 and -2 represent hitherto unknown components of the endosomal protein trafficking machinery. ..
  8. Cox M, Tucker A, Tang J, Talbot K, Richer D, Yeh L, et al. Neurobehavioral abnormalities in the dysbindin-1 mutant, sandy, on a C57BL/6J genetic background. Genes Brain Behav. 2009;8:390-7 pubmed publisher
    Sandy mice have a deletion mutation in the gene encoding dysbindin-1, Dtnbp1, with consequent reduction of the protein in heterozygotes and its loss in homozygotes. The sandy mouse thus serves as an animal model of dysbindin-1 function...
  9. Bhardwaj S, Baharnoori M, Sharif Askari B, Kamath A, Williams S, Srivastava L. Behavioral characterization of dysbindin-1 deficient sandy mice. Behav Brain Res. 2009;197:435-41 pubmed publisher
    b>Dysbindin-1 (dystrobrevin binding protein-1) has been reported as a candidate gene associated with schizophrenia...

More Information

Publications73

  1. Gokhale A, Larimore J, Werner E, So L, Moreno De Luca A, Lese Martin C, et al. Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1. J Neurosci. 2012;32:3697-711 pubmed publisher
    ..Organelles Complex 1 (BLOC-1) is a protein complex containing the schizophrenia susceptibility factor dysbindin, which is encoded by the gene DTNBP1...
  2. Benson M, Newey S, Martin Rendon E, Hawkes R, Blake D. Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain. J Biol Chem. 2001;276:24232-41 pubmed
    ..Here we describe the identification of a dysbindin, a novel dystrobrevin-binding protein...
  3. Tang T, Yang F, Chen B, Lu Y, Ji Y, Roche K, et al. Dysbindin regulates hippocampal LTP by controlling NMDA receptor surface expression. Proc Natl Acad Sci U S A. 2009;106:21395-400 pubmed publisher
    Abnormalities in NMDA receptor (NMDAR) function have been implicated in schizophrenia. Here, we show that dysbindin, a schizophrenia-susceptibility gene widely expressed in the forebrain, controls the surface expression of NMDARs in a ..
  4. Papaleo F, Yang F, Garcia S, Chen J, Lu B, Crawley J, et al. Dysbindin-1 modulates prefrontal cortical activity and schizophrenia-like behaviors via dopamine/D2 pathways. Mol Psychiatry. 2012;17:85-98 pubmed publisher
    b>Dysbindin-1 regulates D2-receptor trafficking and is implicated in schizophrenia and related cognitive abnormalities, but whether this molecular effect mediates the clinical manifestations of the disorder is unknown...
  5. Nazarian R, Starcevic M, Spencer M, Dell Angelica E. Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein. Biochem J. 2006;395:587-98 pubmed
    b>Dysbindin was identified as a dystrobrevin-binding protein potentially involved in the pathogenesis of muscular dystrophy...
  6. Setty S, Tenza D, Truschel S, Chou E, Sviderskaya E, Theos A, et al. BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol Biol Cell. 2007;18:768-80 pubmed
  7. Larimore J, Ryder P, Kim K, Ambrose L, Chapleau C, Calfa G, et al. MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons. PLoS ONE. 2013;8:e65069 pubmed publisher
    ..ASD gene MECP2 which cause Rett syndrome affect the expression of genes encoding the schizophrenia risk factor dysbindin, a subunit of the biogenesis of lysosome-related organelles complex-1 (BLOC-1), and associated interacting ..
  8. Kubota K, Kumamoto N, Matsuzaki S, Hashimoto R, Hattori T, Okuda H, et al. Dysbindin engages in c-Jun N-terminal kinase activity and cytoskeletal organization. Biochem Biophys Res Commun. 2009;379:191-5 pubmed publisher
    A number of reports have provided genetic evidence for an association between the DTNBP1 gene (coding dysbindin) and schizophrenia...
  9. Ma X, Fei E, Fu C, Ren H, Wang G. Dysbindin-1, a schizophrenia-related protein, facilitates neurite outgrowth by promoting the transcriptional activity of p53. Mol Psychiatry. 2011;16:1105-16 pubmed publisher
    Genetic variations in the DTNBP1 gene (encoding the protein dysbindin-1) have been implicated as risk factors in the pathogenesis of schizophrenia...
  10. Jentsch J, Trantham Davidson H, Jairl C, Tinsley M, Cannon T, Lavin A. Dysbindin modulates prefrontal cortical glutamatergic circuits and working memory function in mice. Neuropsychopharmacology. 2009;34:2601-8 pubmed publisher
    ..The protein coded for by DTNBP1, dysbindin, is expressed within forebrain glutamatergic neurons, in which it interacts with proteins involved in vesicular ..
  11. Takao K, Toyama K, Nakanishi K, Hattori S, Takamura H, Takeda M, et al. Impaired long-term memory retention and working memory in sdy mutant mice with a deletion in Dtnbp1, a susceptibility gene for schizophrenia. Mol Brain. 2008;1:11 pubmed publisher
    ..The dystrobrevin-binding protein 1 (DTNBP1: dysbindin-1) gene is a major susceptibility gene for schizophrenia...
  12. Feng Y, Zhou Z, He X, Wang H, Guo X, Hao C, et al. Dysbindin deficiency in sandy mice causes reduction of snapin and displays behaviors related to schizophrenia. Schizophr Res. 2008;106:218-28 pubmed publisher
    Schizophrenia (SCZ) is a complex trait with a high heritability. The DTNBP1 gene (encoding dysbindin) is one of the leading susceptible genes of SCZ...
  13. Hattori S, Murotani T, Matsuzaki S, Ishizuka T, Kumamoto N, Takeda M, et al. Behavioral abnormalities and dopamine reductions in sdy mutant mice with a deletion in Dtnbp1, a susceptibility gene for schizophrenia. Biochem Biophys Res Commun. 2008;373:298-302 pubmed publisher
    ..Genetic evidence for an association between the dysbindin-1 gene (DTNBP1: dystrobrevin binding protein 1) and schizophrenia has been repeatedly reported in various ..
  14. Murotani T, Ishizuka T, Hattori S, Hashimoto R, Matsuzaki S, Yamatodani A. High dopamine turnover in the brains of Sandy mice. Neurosci Lett. 2007;421:47-51 pubmed
    ..From previous studies, dopaminergic neurons are believed to be related to schizophrenic symptoms. Dysbindin (DTNBP1: dystrobrevin binding protein 1) gene is a susceptibility gene for schizophrenia, but the involvement of ..
  15. Benson M, Tinsley C, Blake D. Myospryn is a novel binding partner for dysbindin in muscle. J Biol Chem. 2004;279:10450-8 pubmed
    b>Dysbindin is a coiled-coil-containing protein that was initially identified in a screen for dystrobrevin-interacting proteins...
  16. Larimore J, Tornieri K, Ryder P, Gokhale A, Zlatic S, Craige B, et al. The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol Biol Cell. 2011;22:4854-67 pubmed publisher
    b>Dysbindin assembles into the biogenesis of lysosome-related organelles complex 1 (BLOC-1), which interacts with the adaptor protein complex 3 (AP-3), mediating a common endosome-trafficking route...
  17. Nian H, Fan C, Liao S, Shi Y, Zhang K, Liu Y, et al. RNF151, a testis-specific RING finger protein, interacts with dysbindin. Arch Biochem Biophys. 2007;465:157-63 pubmed
    ..Yeast two-hybrid screening identified the physical interaction of mouse RNF151 and dysbindin, which was confirmed by the co-immunoprecipitation of the proteins and by their co-localization in intact cells...
  18. Talbot K, Cho D, Ong W, Benson M, Han L, Kazi H, et al. Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin. Hum Mol Genet. 2006;15:3041-54 pubmed
    Variations in the gene encoding the novel protein dysbindin-1 (DTNBP1) are among the most commonly reported genetic variations associated with schizophrenia...
  19. Karlsgodt K, Robleto K, Trantham Davidson H, Jairl C, Cannon T, Lavin A, et al. Reduced dysbindin expression mediates N-methyl-D-aspartate receptor hypofunction and impaired working memory performance. Biol Psychiatry. 2011;69:28-34 pubmed publisher
    ..The gene encoding dystrobrevin-binding-protein-1 (dysbindin) is a putative candidate gene associated with cognitive impairments, including memory deficits, in both ..
  20. Li W, Zhang Q, Oiso N, Novak E, Gautam R, O Brien E, et al. 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. 2003;35:84-9 pubmed
    ..7). Here we show that the sdy mutant mouse expresses no dysbindin protein owing to a deletion in the gene Dtnbp1 (encoding dysbindin) and that mutation of the human ortholog ..
  21. Larimore J, Zlatic S, Gokhale A, Tornieri K, Singleton K, Mullin A, et al. Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes. J Biol Chem. 2014;289:14291-300 pubmed publisher
    Post-mortem analysis has revealed reduced levels of the protein dysbindin in the brains of those suffering from the neurodevelopmental disorder schizophrenia...
  22. Hikita T, Taya S, Fujino Y, Taneichi Kuroda S, Ohta K, Tsuboi D, et al. Proteomic analysis reveals novel binding partners of dysbindin, a schizophrenia-related protein. J Neurochem. 2009;110:1567-74 pubmed publisher
    ..Dystrobrevin binding protein 1, a gene encoding dysbindin protein, is a susceptibility gene for schizophrenia that was identified by family-based association analysis...
  23. Nihonmatsu Kikuchi N, Hashimoto R, Hattori S, Matsuzaki S, Shinozaki T, Miura H, et al. Reduced rate of neural differentiation in the dentate gyrus of adult dysbindin null (sandy) mouse. PLoS ONE. 2011;6:e15886 pubmed publisher
    Genetic variations in the gene encoding dysbindin has consistently been associated with schizophrenia and bipolar disorder, although little is known about the neural functions carried out by dysbindin...
  24. Hao Z, Wei L, Feng Y, Chen X, Du W, Ma J, et al. Impaired maturation of large dense-core vesicles in muted-deficient adrenal chromaffin cells. J Cell Sci. 2015;128:1365-74 pubmed publisher
    ..In mu chromaffin cells, the size of readily releasable pool and the vesicle release frequency were reduced. Our studies suggest that the muted protein is involved in the selective export of CgA during the biogenesis of LDCVs. ..
  25. Cope Z, Powell S, Young J. Modeling neurodevelopmental cognitive deficits in tasks with cross-species translational validity. Genes Brain Behav. 2016;15:27-44 pubmed publisher
  26. Swank R, Novak E, McGarry M, Rusiniak M, Feng L. Mouse models of Hermansky Pudlak syndrome: a review. Pigment Cell Res. 1998;11:60-80 pubmed
  27. Papaleo F, Burdick M, Callicott J, Weinberger D. Epistatic interaction between COMT and DTNBP1 modulates prefrontal function in mice and in humans. Mol Psychiatry. 2014;19:311-6 pubmed publisher
    ..experiment a consistent non-linear interaction between two genes--catechol-O-methyl transferase (COMT) and dysbindin (dys; dystrobrevin-binding protein 1 (DTNBP1))--implicated through different mechanisms in cortical dopamine ..
  28. Bhardwaj S, Stojkovic K, Kiessling S, Srivastava L, Cermakian N. Constant light uncovers behavioral effects of a mutation in the schizophrenia risk gene Dtnbp1 in mice. Behav Brain Res. 2015;284:58-68 pubmed publisher
    ..wheel-running behavior of Sandy (Sdy) mice, which have a loss-of-function mutation in the schizophrenia risk gene Dtnbp1, and exhibit several behavioral features of schizophrenia...
  29. Monis W, Faundez V, Pazour G. BLOC-1 is required for selective membrane protein trafficking from endosomes to primary cilia. J Cell Biol. 2017;216:2131-2150 pubmed publisher
    ..This is the first demonstration of a role for BLOC-1 in ciliary assembly and highlights the complexity of pathways taken to the cilium. ..
  30. Yang W, Zhu C, Shen Y, Xu Q. The pathogenic mechanism of dysbindin-1B toxic aggregation: BLOC-1 and intercellular vesicle trafficking. Neuroscience. 2016;333:78-91 pubmed publisher
    DTNBP1, which encodes dysbindin-1, is associated with cognitive impairment. Genetic evidence indicates that the C allele of rs117610176 leads to an increase in DTNBP-1b mRNA splicing in patients with paranoid schizophrenia...
  31. Bhardwaj S, Ryan R, Wong T, Srivastava L. Loss of dysbindin-1, a risk gene for schizophrenia, leads to impaired group 1 metabotropic glutamate receptor function in mice. Front Behav Neurosci. 2015;9:72 pubmed publisher
    The expression of dysbindin-1, a protein coded by the risk gene dtnbp1, is reduced in the brains of schizophrenia patients. Evidence indicates a role of dysbindin-1 in dopaminergic and glutamatergic transmission...
  32. Taneichi Kuroda S, Taya S, Hikita T, Fujino Y, Kaibuchi K. Direct interaction of Dysbindin with the AP-3 complex via its mu subunit. Neurochem Int. 2009;54:431-8 pubmed publisher
    ..Recent studies have revealed the association between genetic variation of Dysbindin (DTNBP1) and schizophrenia...
  33. Molyneaux B, Goff L, Brettler A, Chen H, Hrvatin S, Rinn J, et al. DeCoN: genome-wide analysis of in vivo transcriptional dynamics during pyramidal neuron fate selection in neocortex. Neuron. 2015;85:275-288 pubmed publisher
    ..This multifaceted study generates a powerful resource and informs understanding of the transcriptional regulation underlying pyramidal neuron diversity in the neocortex. ..
  34. Nagai T, Kitahara Y, Shiraki A, Hikita T, Taya S, Kaibuchi K, et al. Dysfunction of dopamine release in the prefrontal cortex of dysbindin deficient sandy mice: an in vivo microdialysis study. Neurosci Lett. 2010;470:134-8 pubmed publisher
    Dystrobrevin binding protein-1 gene (DTNBP1), which encodes dysbindin protein, has been identified as a schizophrenia susceptibility gene...
  35. Bossi G, Booth S, Clark R, Davis E, Liesner R, Richards K, et al. Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV. Traffic. 2005;6:243-51 pubmed
    ..We find that CTL function is normal in HPS patients and pale-ear mice deficient in BLOC-3, pallid, muted and sandy mice deficient in BLOC-1, ruby-eye mice deficient in BLOC-2 and buff mice deficient in Vps33a...
  36. White R, Siegel S. Cellular and circuit models of increased resting-state network gamma activity in schizophrenia. Neuroscience. 2016;321:66-76 pubmed publisher
    ..We address how modeling this aspect of the illness in animals may help treatment development as well as providing insights into the etiology of SCZ. ..
  37. Di Giovanni J, Sheng Z. Regulation of synaptic activity by snapin-mediated endolysosomal transport and sorting. EMBO J. 2015;34:2059-77 pubmed publisher
    ..acts as a dynein adaptor that mediates the retrograde transport of late endosomes (LEs) and interacts with dysbindin, a subunit of the endosomal sorting complex BLOC-1...
  38. Rangrez A, Bernt A, Poyanmehr R, Harazin V, Boomgaarden I, Kuhn C, et al. Dysbindin is a potent inducer of RhoA-SRF-mediated cardiomyocyte hypertrophy. J Cell Biol. 2013;203:643-56 pubmed publisher
    b>Dysbindin is an established schizophrenia susceptibility gene thoroughly studied in the context of the brain...
  39. Han M, Hu Z, Chen C, Chen Y, Gucek M, Li Z, et al. Dysbindin-associated proteome in the p2 synaptosome fraction of mouse brain. J Proteome Res. 2014;13:4567-80 pubmed publisher
    The gene DTNBP1 encodes the protein dysbindin and is among the most promising and highly investigated schizophrenia-risk genes. Accumulating evidence suggests that dysbindin plays an important role in the regulation of neuroplasticity...
  40. Carlson G, Talbot K, Halene T, Gandal M, Kazi H, Schlosser L, et al. Dysbindin-1 mutant mice implicate reduced fast-phasic inhibition as a final common disease mechanism in schizophrenia. Proc Natl Acad Sci U S A. 2011;108:E962-70 pubmed publisher
    ..In schizophrenia, the encoded protein dystrobrevin-binding protein 1 (dysbindin-1) is often reduced in excitatory cortical limbic synapses...
  41. Ghiani C, Starcevic M, Rodriguez Fernandez I, Nazarian R, Cheli V, Chan L, et al. The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. Mol Psychiatry. 2010;15:115, 204-15 pubmed publisher
    Previous studies have implicated DTNBP1 as a schizophrenia susceptibility gene and its encoded protein, dysbindin, as a potential regulator of synaptic vesicle physiology...
  42. Jia J, Hu Z, Nordman J, Li Z. The schizophrenia susceptibility gene dysbindin regulates dendritic spine dynamics. J Neurosci. 2014;34:13725-36 pubmed publisher
    b>Dysbindin is a schizophrenia susceptibility gene required for the development of dendritic spines...
  43. Carr G, Jenkins K, Weinberger D, Papaleo F. Loss of dysbindin-1 in mice impairs reward-based operant learning by increasing impulsive and compulsive behavior. Behav Brain Res. 2013;241:173-84 pubmed publisher
    The dystrobrevin-binding protein 1 (DTNBP1) gene, which encodes the dysbindin-1 protein, is a potential schizophrenia susceptibility gene. Polymorphisms in the DTNBP1 gene have been associated with altered cognitive abilities...
  44. Kvajo M, McKellar H, Gogos J. Avoiding mouse traps in schizophrenia genetics: lessons and promises from current and emerging mouse models. Neuroscience. 2012;211:136-64 pubmed publisher
    ..Finally, we discuss emerging mouse models, such as second-generation pathophysiology models based on innovative approaches that are facilitated by the information gathered from the current genetic mouse models. ..
  45. Orozco I, Koppensteiner P, Ninan I, Arancio O. The schizophrenia susceptibility gene DTNBP1 modulates AMPAR synaptic transmission and plasticity in the hippocampus of juvenile DBA/2J mice. Mol Cell Neurosci. 2014;58:76-84 pubmed publisher
    ..While no causative mutations have been found, reduced expression of the encoded protein, dysbindin, was reported in patients...
  46. Chen Y, Bang S, McMullen M, Kazi H, Talbot K, Ho M, et al. Neuronal Activity-Induced Sterol Regulatory Element Binding Protein-1 (SREBP1) is Disrupted in Dysbindin-Null Mice-Potential Link to Cognitive Impairment in Schizophrenia. Mol Neurobiol. 2017;54:1699-1709 pubmed publisher
    ..Dystrobrevin-binding protein 1 (DTNBP1 or dysbindin) is one of the Research Domain Constructs (RDoC) associated with cognition and is significantly reduced in the ..
  47. Gokhale A, Hartwig C, Freeman A, Das R, Zlatic S, Vistein R, et al. 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. J Neurosci. 2016;36:12393-12411 pubmed
    ..We tested this idea by determining the proteome sensitive to genetic defects in a locus encoding dysbindin, a protein required for synapse biology and implicated in schizophrenia risk...
  48. Blasius A, Arnold C, Georgel P, Rutschmann S, Xia Y, Lin P, et al. Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells. Proc Natl Acad Sci U S A. 2010;107:19973-8 pubmed publisher
    ..These proteins are not necessary for TLR7 or TLR9 signaling in conventional DCs and thus comprise a membrane trafficking pathway uniquely required for endosomal TLR signaling in pDCs. ..
  49. Fei E, Ma X, Zhu C, Xue T, Yan J, Xu Y, et al. Nucleocytoplasmic shuttling of dysbindin-1, a schizophrenia-related protein, regulates synapsin I expression. J Biol Chem. 2010;285:38630-40 pubmed publisher
    b>Dysbindin-1 is a 50-kDa coiled-coil-containing protein encoded by the gene DTNBP1 (dystrobrevin-binding protein 1), a candidate genetic factor for schizophrenia...
  50. Soma M, Wang M, Suo S, Ishiura S. Dysbindin-1, a schizophrenia-related protein, interacts with HDAC3. Neurosci Lett. 2014;582:120-4 pubmed publisher
    DTNBP1 is a key candidate gene associated with schizophrenia. The expression of its protein product, dysbindin-1, is altered in the brains of schizophrenic patients; however, the physiological functions of dysbindin-1 in the central ..
  51. Lee S, Kim S, Suh B, Sun H, Park Y, Hong J, et al. Disrupted-in-schizophrenia 1 (DISC1) regulates dysbindin function by enhancing its stability. J Biol Chem. 2015;290:7087-96 pubmed publisher
    b>Dysbindin and DISC1 are schizophrenia susceptibility factors playing roles in neuronal development...
  52. Watanabe A, Toyota T, Owada Y, Hayashi T, Iwayama Y, Matsumata M, et al. Fabp7 maps to a quantitative trait locus for a schizophrenia endophenotype. PLoS Biol. 2007;5:e297 pubmed
    ..We also discuss the results from the perspective of fetal programming. ..
  53. Wang H, Yuan Y, Zhang Z, Yan H, Feng Y, Li W. Dysbindin-1C is required for the survival of hilar mossy cells and the maturation of adult newborn neurons in dentate gyrus. J Biol Chem. 2014;289:29060-72 pubmed publisher
    DTNBP1 (dystrobrevin-binding protein 1), which encodes dysbindin-1, is one of the leading susceptibility genes for schizophrenia...
  54. Glen W, Horowitz B, Carlson G, Cannon T, Talbot K, Jentsch J, et al. Dysbindin-1 loss compromises NMDAR-dependent synaptic plasticity and contextual fear conditioning. Hippocampus. 2014;24:204-13 pubmed publisher
    Genetic variants in DTNBP1 encoding the protein dysbindin-1 have often been associated with schizophrenia and with the cognitive deficits prominent in that disorder...
  55. Saggu S, Cannon T, Jentsch J, Lavin A. Potential molecular mechanisms for decreased synaptic glutamate release in dysbindin-1 mutant mice. Schizophr Res. 2013;146:254-63 pubmed publisher
    ..The protein encoded by DTNBP1, dysbindin-1, is expressed in forebrain neurons where it interacts with proteins mediating vesicular trafficking and ..
  56. Nguyen T, Wei M. Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentation. J Invest Dermatol. 2004;122:452-60 pubmed
    ..that all strains examined here except for ashen have defects in morphogenesis, the most severely affected is sandy, muted, and buff followed by subtle gray...
  57. Xie T, Nguyen T, Hupe M, Wei M. Multidrug resistance decreases with mutations of melanosomal regulatory genes. Cancer Res. 2009;69:992-9 pubmed publisher
    ..Independent mutations in three separate genes that regulate melanosome biogenesis (Dtnbp1, Pldn, Vps33a) also result in increased cis-platin sensitivity...
  58. Schmieg N, Rocchi C, Romeo S, Maggio R, Millan M, Mannoury La Cour C. Dysbindin-1 modifies signaling and cellular localization of recombinant, human D₃ and D₂ receptors. J Neurochem. 2016;136:1037-51 pubmed publisher
    Dystrobrevin binding protein-1 (dysbindin-1), a candidate gene for schizophrenia, modulates cognition, synaptic plasticity and frontocortical circuitry and interacts with glutamatergic and dopaminergic transmission...
  59. Yang Q, He X, Yang L, Zhou Z, Cullinane A, Wei A, et al. The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic. 2012;13:1160-9 pubmed publisher
    ..Mild defects in the melanosomes of the retinal pigment epithelia and in the platelet dense granules of the Kxd1-KO mouse were observed, mimicking a mouse model of mild Hermansky-Pudlak syndrome that affects the biogenesis of LROs. ..
  60. Kobayashi K, Umeda Yano S, Yamamori H, Takeda M, Suzuki H, Hashimoto R. Correlated alterations in serotonergic and dopaminergic modulations at the hippocampal mossy fiber synapse in mice lacking dysbindin. PLoS ONE. 2011;6:e18113 pubmed publisher
    b>Dysbindin-1 (dystrobrevin-binding protein 1, DTNBP1) is one of the promising schizophrenia susceptibility genes...
  61. Arnold M, Cross R, Singleton K, Zlatic S, Chapleau C, Mullin A, et al. The Endosome Localized Arf-GAP AGAP1 Modulates Dendritic Spine Morphology Downstream of the Neurodevelopmental Disorder Factor Dysbindin. Front Cell Neurosci. 2016;10:218 pubmed
    ..Finally, we determined the sensitivity of AGAP1 expression to mutations in the DTNBP1 gene, which is associated with neurodevelopmental disorder, and found that AGAP1 mRNA and protein levels are ..
  62. Swank R, Sweet H, Davisson M, Reddington M, Novak E. Sandy: a new mouse model for platelet storage pool deficiency. Genet Res. 1991;58:51-62 pubmed
    b>Sandy (sdy) is a mouse mutant with diluted pigmentation which recently arose in the DBA/2J strain. Genetic tests indicate it is caused by an autosomal recessive mutation on mouse Chromosome 13 near the cr and Xt genetic loci...
  63. Gokhale A, Vrailas Mortimer A, Larimore J, Comstra H, Zlatic S, Werner E, et al. Neuronal copper homeostasis susceptibility by genetic defects in dysbindin, a schizophrenia susceptibility factor. Hum Mol Genet. 2015;24:5512-23 pubmed publisher
    ..Here we focus on the schizophrenia susceptibility gene DTNBP1 and its product dysbindin, a subunit of the BLOC-1 complex, and describe a neuronal pathway modulating copper metabolism via ATP7A...
  64. Zhang W, Daly K, Liang B, Zhang L, Li X, Li Y, et al. BDNF rescues prefrontal dysfunction elicited by pyramidal neuron-specific DTNBP1 deletion in vivo. J Mol Cell Biol. 2017;9:117-131 pubmed publisher
    Dystrobrevin-binding protein 1 (Dtnbp1) is one of the earliest identified schizophrenia susceptibility genes. Reduced expression of DTNBP1 is commonly found in brain areas of schizophrenic patients...