ArticleCell2018
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.
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Article in Cell, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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48citing papers in PubMed, 1 pooled it
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48 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
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- Mitochondrial dynamics in neurodevelopment and neurodevelopmental disorders.Nature reviews. Neuroscience · 2026Review
- Functions of J-domain proteins in mitochondrial protein biogenesis.Protein science : a publication of the Protein Society · 2026Review
- Unaltered empathy-related behaviors in Williams-Beuren syndrome mouse models.Molecular brain · 2026Article
- Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.World journal of pediatrics : WJP · 2026Review
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- Article
- RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.Journal of genetics and genomics = Yi chuan xue bao · 2024Article
- Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features?BMC pregnancy and childbirth · 2024Article
- Mitochondria: a new intervention target for tumor invasion and metastasis.Molecular medicine (Cambridge, Mass.) · 2024Review
- Multiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitability.The Journal of clinical investigation · 2024Article
- Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.Cell reports · 2024Article
- Leber's hereditary optic neuropathy: Update on the novel genes and therapeutic options.Journal of the Chinese Medical Association : JCMA · 2024Article
- Neuronal Gtf2i deletion alters mitochondrial and autophagic properties.Communications biology · 2023Article
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Authors and funding
25 authors at 5 institutions in 3 countries.
Andrew T N TebbenkampDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
Luis VarelaProgram in Integrative Cell Signaling and Neurobiology of Metabolism, Department of Comparative Medicine, Yale School of Medicine, New Haven, CT 06510, USA.
Jinmyung ChoiDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
Miguel I ParedesDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
Alice M GianiDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
Jae Eun SongProgram in Integrative Cell Signaling and Neurobiology of Metabolism, Department of Comparative Medicine, Yale School of Medicine, New Haven, CT 06510, USA.
Matija Sestan-PesaProgram in Integrative Cell Signaling and Neurobiology of Metabolism, Department of Comparative Medicine, Yale School of Medicine, New Haven, CT 06510, USA.
Daniel FranjicDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
André M M SousaDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
Zhong-Wu LiuProgram in Integrative Cell Signaling and Neurobiology of Metabolism, Department of Comparative Medicine, Yale School of Medicine, New Haven, CT 06510, USA.
Mingfeng LiDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
Candace BichselDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
Marco KochProgram in Integrative Cell Signaling and Neurobiology of Metabolism, Department of Comparative Medicine, Yale School of Medicine, New Haven, CT 06510, USA.
Klara Szigeti-BuckProgram in Integrative Cell Signaling and Neurobiology of Metabolism, Department of Comparative Medicine, Yale School of Medicine, New Haven, CT 06510, USA.
Fuchen LiuDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
Zhuo LiDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
Yuka I KawasawaInstitute for Personalized Medicine and Departments of Biochemistry and Molecular Biology and Pharmacology, Penn State College of Medicine, Hershey, PA 17033, USA.
Constantinos D PaspalasDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
Yann S MineurDepartment of Psychiatry, Yale School of Medicine, New Haven, CT 06510, USA.
Paolo PronteraMedical Genetics Unit, Hospital "Santa Maria della Misericordia," 06129 Perugia, Italy.
Giuseppe MerlaDivision of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Foggia, Italy.
Marina R PicciottoDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Department of Psychiatry, Yale School of Medicine, New Haven, CT 06510, USA.
Amy F T ArnstenDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Department of Psychiatry, Yale School of Medicine, New Haven, CT 06510, USA.
Tamas L HorvathDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Program in Integrative Cell Signaling and Neurobiology of Metabolism, Department of Comparative Medicine, Yale School of Medicine, New Haven, CT 06510, USA; Department of Anatomy and Histology, University of Veterinary Medicine, 1078 Budapest, Hungary.
Nenad SestanDepartment of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Department of Psychiatry, Yale School of Medicine, New Haven, CT 06510, USA; Departments of Genetics and of Comparative Medicine, Program in Cellular Neuroscience, Neurodegeneration and Repair, and Yale Child Study Center, Yale School of Medicine, New Haven, CT 06510, USA. Electronic address: nenad.sestan@yale.edu.
Yale University · USCasa Sollievo della Sofferenza · ITOspedale Santa Maria · ITPennsylvania State University · USUniversity of Veterinary Medicine · HU
Funding
The role of AgRP/Auga-ALK pathway in FGF21's brain action on agingP01AG051459 · NIA · YALE UNIVERSITY · PI PHILIPP E SCHERER · 2016 to 2026
$25.7M Functional Genomics of Human Brain DevelopmentP50MH106934 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2014 to 2019
$7.9M1/2 Cell Type and Region-Specific Regulatory Networks in Human Brain Development and DisordersU01MH116488 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2018 to 2022
$6.5MNEUROBIOLOGY OF CORTICAL SYSTEMST32NS007224 · NINDS · YALE UNIVERSITY · PI CARDIN, JESSICA A · 1985 to 2025
$4.6MHighly evolved brain circuits in primates: molecular vulnerabilities for diseaseDP1AG047744 · NIA · YALE UNIVERSITY · PI ARNSTEN, AMY F.T. · 2013 to 2017
$4.1M2/2 Somatic mosaicism and autism spectrum disorderU01MH106874 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2015 to 2019
$4.0M1/3 Integrative Genomic Analysis of Human Brain Development and AutismR01MH110926 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2016 to 2019
$3.2MPET imaging of AD-related markers in non-human primatesR01AG052986 · NIA · YALE UNIVERSITY · PI HORVATH, TAMAS L, LAWRENCE, MATTHEW SWAN · 2017 to 2020
$2.9MAgRP neurons promote the effects of calorie restriction on lifespanR01AG052005 · NIA · YALE UNIVERSITY · PI HORVATH, TAMAS L · 2017 to 2021
$2.2MFeeding Driven by POMC NeuronsR01DK111178 · NIDDK · YALE UNIVERSITY · PI HORVATH, TAMAS L · 2017 to 2020
$1.9M3/3 Multidimensional investigation of the etiology of autism spectrum disorderR01MH109904 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2016 to 2018
$816kIn vivo and in vitro systems to validate geronic proteins and their mechanisms of actionR56AG052986 · NIA · YALE UNIVERSITY · PI HORVATH, TAMAS L, LAWRENCE, MATTHEW SWAN · 2016 to 2016
$494kNIA NIH HHS DP1 AG047744NIA NIH HHS P01 AG051459NIA NIH HHS R01 AG052005NIA NIH HHS R01 AG052986NIA NIH HHS R56 AG052986NIDDK NIH HHS R01 DK111178NIMH NIH HHS P50 MH106934NIMH NIH HHS R01 MH109904NIMH NIH HHS R01 MH110926NIMH NIH HHS U01 MH106874NIMH NIH HHS U01 MH116488NINDS NIH HHS T32 NS007224
Abstract
Despite the known causality of copy-number variations (CNVs) to human neurodevelopmental disorders, the mechanisms behind each gene's contribution to the constellation of neural phenotypes remain elusive. Here, we investigated the 7q11.23 CNV, whose hemideletion causes Williams syndrome (WS), and uncovered that mitochondrial dysfunction participates in WS pathogenesis. Dysfunction is facilitated in part by the 7q11.23 protein DNAJC30, which interacts with mitochondrial ATP-synthase machinery. Removal of Dnajc30 in mice resulted in hypofunctional mitochondria, diminished morphological features of neocortical pyramidal neurons, and altered behaviors reminiscent of WS. The mitochondrial features are consistent with our observations of decreased integrity of oxidative phosphorylation supercomplexes and ATP-synthase dimers in WS. Thus, we identify DNAJC30 as an auxiliary component of ATP-synthase machinery and reveal mitochondrial maladies as underlying certain defects in brain development and function associated with WS.
Indexed as
AnimalsATP Synthetase ComplexesBrainCells, CulturedFemaleHEK293 CellsHSP40 Heat-Shock ProteinsHumansMacaca mulattaMaleMiceMice, Inbred C57BLMitochondriaOxidative PhosphorylationWilliams SyndromeATP Synthetase ComplexesDnajc30 protein, mouseHSP40 Heat-Shock Proteins
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