ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2019
Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior.
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Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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43 citing papers in PubMed, 62 citations in OpenAlex.
- Strong connections of locally clustered neurons in the upper-layer cortex underlie schizophrenia-related auditory deviance detection.Science advances · 2026Article
- Mitochondrial dynamics in neurodevelopment and neurodevelopmental disorders.Nature reviews. Neuroscience · 2026Review
- How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle.Psychiatry and clinical neurosciences · 2026Review
- Convergent effects of neurodevelopmental disorder-associated variants at mitochondria.bioRxiv : the preprint server for biology · 2026Article
- Suppressive Genetic Interactions Between Haploinsufficient Mitochondrial Genes Encoded in the 22q11.2 Microdeletion Locus Define Brain and Cardiac Phenotypes.bioRxiv : the preprint server for biology · 2026Article
- Proteomic Signatures of Hippocampal Nonsynaptic and Synaptosome-Enriched Mitochondria in Rats Resilient to Chronic Social Isolation.Biomolecules · 2025Review
- Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant.Nucleic acids research · 2025Article
- An ace in the hole? Opportunities and limits of using mice to understand schizophrenia neurobiology.Molecular psychiatry · 2025Review
- Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry.Journal of autism and developmental disorders · 2025Article
- The multifaceted role of mitochondria in autism spectrum disorder.Molecular psychiatry · 2025Review
- Neuronal Synaptic Communication and Mitochondrial Energetics in Human Health and Disease.Advances in experimental medicine and biology · 2025Review
- Mitochondrial dysfunction in psychiatric disorders.Schizophrenia research · 2024Review
- The mitochondrial citrate carrier SLC25A1 regulates metabolic reprogramming and morphogenesis in the developing heart.Communications biology · 2024Article
- Anatomical and molecular characterization of parvalbumin-cholecystokinin co-expressing inhibitory interneurons: implications for neuropsychiatric conditions.Molecular psychiatry · 2023Article
- Review: Genes Involved in Mitochondrial Physiology Within 22q11.2 Deleted Region and Their Relevance to Schizophrenia.Schizophrenia bulletin · 2023Article
- Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.Science advances · 2023Article
- Article
- Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia.Molecular psychiatry · 2023Article
- 17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis.Disease models & mechanisms · 2022Article
- Review
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Authors and funding
22 authors at 11 institutions in 5 countries.
Avanti GokhaleDepartments of Cell Biology.ORCID 0000-0001-7432-8541
Cortnie HartwigDepartments of Cell Biology.ORCID 0000-0002-6612-0780
Amanda A H FreemanDepartments of Cell Biology.ORCID 0000-0003-0084-7618
Julia L BassellDepartments of Cell Biology.
Stephanie A ZlaticDepartments of Cell Biology.ORCID 0000-0003-0758-9500
Christie Sapp SavasDepartment of Chemistry, Agnes Scott College, Decatur, Georgia 30030.
Trishna VadlamudiDepartment of Chemistry, Agnes Scott College, Decatur, Georgia 30030.
Farida AbudulaiDepartment of Chemistry, Agnes Scott College, Decatur, Georgia 30030.
Tyler T PhamPsychiatry.
Amanda CrockerProgram in Neuroscience, Middlebury College, Middlebury, Vermont 05753.ORCID 0000-0003-1768-7841
Erica WernerRadiation Oncology.
Zhexing WenPsychiatry.
Gabriela M RepettoCentro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
Joseph A GogosDepartments of Neuroscience and Physiology, Columbia University, New York, New York 10032.
Steven M ClaypoolDepartment of Physiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.ORCID 0000-0001-5316-1623
Jennifer K ForsythSemel Institute for Neuroscience and Human Behavior and Department of Psychology, UCLA, Los Angeles, California, 90095, and.
Carrie E BeardenSemel Institute for Neuroscience and Human Behavior and Department of Psychology, UCLA, Los Angeles, California, 90095, and.ORCID 0000-0002-8516-923X
Jill GlausierDepartments of Psychiatry and Neuroscience, University of Pittsburgh, Pittsburgh, Pennsylvania, 15213.
David A LewisDepartments of Psychiatry and Neuroscience, University of Pittsburgh, Pittsburgh, Pennsylvania, 15213.ORCID 0000-0002-3225-6778
Nicholas T SeyfriedBiochemistry.
Jennifer Q KwongPediatrics, Emory University, Atlanta, Georgia, 30322.
Victor FaundezDepartments of Cell Biology, vfaunde@emory.edu.ORCID 0000-0002-2114-5271
Institute of Cell Biology · UAAgnes Scott College · USCenter for Neurosciences · USUniversity of Pittsburgh · USClínica Alemana · CLColumbia University · USEmory University · USInstitute of Cytochemistry and Molecular Pharmacology · RUJohns Hopkins University · USMiddlebury College · USRadiation Oncology Associates · US
Funding
Implementing a Maternal health and PRegnancy Outcomes Vision for Everyone (IMPROVE)UL1TR002378 · NCATS · EMORY UNIVERSITY · PI Andres J Garcia, Elizabeth O. Ofili · 2017 to 2026
$92.1MIRACDA Fellowships in Research and Science Training (FIRST)K12GM000680 · NIGMS · EMORY UNIVERSITY · PI BROWN, LOU ANN S, MCCARTY, NAEL A · 2000 to 2024
$41.2MResource Component: Acquisition, maintenance and distribution of Drosophila stocksP40OD018537 · OD · TRUSTEES OF INDIANA UNIVERSITY · PI KEVIN R COOK · 2014 to 2026
$13.5MThe Intellectual and Developmental Disabilities Research Center at CHOP/PennU54HD086984 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI SCHULTZ, ROBERT THOMAS · 2016 to 2020
$6.3MNeurodevelopment and Psychosis in the 22q11.2 Deletion SyndromeR01MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2010 to 2020
$6.2MMicroRNA Dysregulation in Pyschiatric Disorders and Cognitive DysfunctionR01MH097879 · NIMH · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GOGOS, JOSEPH A · 2012 to 2021
$5.4MNeurodevelopment and Psychosis in the 22q11.2 Copy Number VariantsR37MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CARRIE E BEARDEN · 2023 to 2026
$2.9MTraining Grant in Neurobehavioral GeneticsT32MH073526 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E, GESCHWIND, DANIEL H · 2006 to 2020
$2.4MCardiolipin and the mitochondrial ADP/ATP carrier interactomeR01HL108882 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI CLAYPOOL, STEVEN MICHAEL · 2013 to 2017
$2.0MSynaptic Mechanisms of a Neurodevelopmental Disorder Interactome in DrosophilaR56MH111459 · NIMH · EMORY UNIVERSITY · PI FAUNDEZ, VICTOR · 2017 to 2018
$1.1MNCATS NIH HHS UL1 TR002378NHLBI NIH HHS R01 HL108882NICHD NIH HHS U54 HD086984NIGMS NIH HHS K12 GM000680NIH HHS P40 OD018537NIMH NIH HHS R01 MH097879NIMH NIH HHS R37 MH085953NIMH NIH HHS R56 MH111459NIMH NIH HHS T32 MH073526
Abstract
Neurodevelopmental disorders offer insight into synaptic mechanisms. To unbiasedly uncover these mechanisms, we studied the 22q11.2 syndrome, a recurrent copy number variant, which is the highest schizophrenia genetic risk factor. We quantified the proteomes of 22q11.2 mutant human fibroblasts from both sexes and mouse brains carrying a 22q11.2-like defect,
Indexed as
22q11 Deletion SyndromeAdenine Nucleotide Translocator 1AnimalsBehavior, AnimalBrainCell LineChromosome DeletionChromosomes, Human, Pair 22DrosophilaFemaleFibroblastsHumansMaleMitochondriaMitochondrial ProteinsNeuronsAdenine Nucleotide Translocator 1Mitochondrial ProteinsOrganic Anion TransportersProteomeSlc25a1 protein, humanSLC25A4 protein, human22q11.2 microdeletionmitochondriaschizophreniaSLC25A1SLC25A4synapse
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.