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Article

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

The Journal of biological chemistry - 16 May 2014

Larimore Jennifer, Zlatic Stephanie A, Gokhale Avanti, Tornieri Karine, Singleton Kaela S, Mullin Ariana P, Tang Junxia, Talbot Konrad, Faundez Victor

Abstract excerpt

Post-mortem analysis has revealed reduced levels of the protein dysbindin in the brains of those suffering from the neurodevelopmental disorder schizophrenia. Consequently, mechanisms controlling the cellular levels of dysbindin and its interacting partners may participate in neurodevelopmental p...

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Identifiers

PMID: 24713699
DOI: 10.1074/jbc.M114.553750
PMCID: PMC4022895

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24713699-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes.PMID 24713699Read ↗

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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 SynapseSemantic proximity Read ↗

Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility.Semantic proximity Read ↗

MeCP2 Regulates the Synaptic Expression of a Dysbindin-BLOC-1 Network Component in Mouse Brain and Human Induced Pluripotent Stem Cell-Derived NeuronsSemantic proximity Read ↗

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Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1.Semantic proximity Read ↗

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