Systems Analysis of the 22q11.2 Microdeletion Syndrome ...€¦ · 1/3/2019 · University School...
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Accepted manuscripts are peer-reviewed but have not been through the copyediting, formatting, or proofreading process.
Copyright © 2019 the authors
This Accepted Manuscript has not been copyedited and formatted. The final version may differ fromthis version. A link to any extended data will be provided when the final version is posted online.
Research Articles: Neurobiology of Disease
Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on aMitochondrial Interactome Necessary for Synapse Function and Behavior
Avanti Gokhale1, Cortnie Hartwig1, Amanda A. H. Freeman1,2, Julia L. Bassell1, Stephanie A. Zlatic1,
Christie Sapp Savas3, Trishna Vadlamudi3, Farida Abudulai3, Tyler T. Pham13, Amanda Crocker4, Erica
Werner5, Zhexing Wen6, Gabriela M. Repetto7, Joseph A. Gogos8, Steven M. Claypool9, Jennifer K.
Forsyth10, Carrie E. Bearden10, Jill Glausier11, David A. Lewis11, Nicholas T. Seyfried12, Jennifer Q.
Kwong13 and Victor Faundez1
1Departments of Cell Biology, Emory University, Atlanta, GA, USA, 303222Center for the Study of Human Health, Emory University, Atlanta, GA, USA, 303223Department of Chemistry, Agnes Scott College, Decatur, Georgia 30030.4Program in Neuroscience, Middlebury College, Middlebury, VT 05753.5Radiation Oncology, Emory University, Atlanta, GA, USA, 303226Psychiatry, Emory University, Atlanta, GA, USA, 303227Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago,Chile.8Departments of Neuroscience and Physiology, Columbia University, New York, NY 10032.9Department of Physiology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205.10Semel Institute for Neuroscience and Human Behavior and Department of Psychology, UCLA, Los Angeles,CA, 90095.11Departments of Psychiatry and Neuroscience, University of Pittsburgh, Pittsburgh, PA, 15213.12Biochemistry, Emory University, Atlanta, GA, USA, 3032213Pediatrics, Emory University, Atlanta, GA, USA, 30322
https://doi.org/10.1523/JNEUROSCI.1983-18.2019
Received: 2 August 2018
Revised: 18 January 2019
Accepted: 15 February 2019
Published: 4 March 2019
Author contributions: A.G., C.H., A.F., S.A.Z., A.C., Z.W., C.E.B., D.A.L., J.Q.K., and V.F. designed research;A.G., C.H., A.F., J.L.B., S.A.Z., C.S.S., T.V., F.A., T.T.P., A.C., E.W., Z.W., G.M.R., J.K.F., C.E.B., J.G.,D.A.L., N.T.S., and J.Q.K. performed research; A.G., C.H., A.F., J.L.B., S.A.Z., C.S.S., T.V., F.A., T.T.P.,A.C., E.W., Z.W., G.M.R., J.K.F., C.E.B., J.G., D.A.L., J.Q.K., and V.F. analyzed data; A.G., C.H., A.F., J.L.B.,S.A.Z., J.A.G., S.C., J.K.F., C.E.B., D.A.L., N.T.S., J.Q.K., and V.F. edited the paper; J.A.G., S.C., and N.T.S.contributed unpublished reagents/analytic tools; V.F. wrote the first draft of the paper; V.F. wrote the paper.
Conflict of Interest: The authors declare no competing financial interests.
This work was supported by grants from the National Institutes of Health R56 MH111459 to VF and EmoryCatalyst Grant, Fondecyt-Chile grant 1171014 to GMR, R01HL108882 to SMC, R01MH097879 to JAG. CHis supported by the FIRST postdoctoral fellowship NIH 5K12GM000680. We thank members of the FaundezLab for their comments and insight. Stocks obtained from the Bloomington Drosophila Stock Center (NIHP40OD018537) were used in this study. This study was supported in part by the Emory HPLC BioanalyticalCore (EHBC) and the Emory Imaging Core. EHBC is supported by the Department of Pharmacology, Emory
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University School of Medicine and the Georgia Clinical & Translational Science Alliance of the National Institutesof Health under Award Number UL1TR002378.
Address Correspondence to VF ([email protected]) ORCID 0000-0002-2114-5271
Cite as: J. Neurosci 2019; 10.1523/JNEUROSCI.1983-18.2019
Alerts: Sign up at www.jneurosci.org/alerts to receive customized email alerts when the fully formatted version of thisarticle is published.
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Systems Analysis of the 22q11.2 Microdeletion Syndrome 3
Converges on a Mitochondrial Interactome Necessary for 4
Synapse Function and Behavior. 5
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Avanti Gokhale1*, Cortnie Hartwig1*, Amanda A. H. Freeman1-2*, Julia L. Bassell1*, Stephanie A. 8 Zlatic1, Christie Sapp Savas3, Trishna Vadlamudi3, Farida Abudulai3, Tyler T. Pham13, Amanda 9 Crocker4, Erica Werner5, Zhexing Wen6, Gabriela M. Repetto7, Joseph A. Gogos8, Steven M. 10
Claypool9, Jennifer K. Forsyth10, Carrie E. Bearden10, Jill Glausier11, David A. Lewis11, Nicholas T. 11 Seyfried12, Jennifer Q. Kwong13, Victor Faundez1#**. 12
13 Departments of Cell Biology1, Center for the Study of Human Health2, Radiation Oncology5, Psychiatry6, 14
Biochemistry12, Pediatrics13, Emory University, Atlanta, GA, USA, 30322. Department of Chemistry, Agnes Scott 15 College, Decatur, Georgia 300303. Program in Neuroscience, Middlebury College, Middlebury, VT 057534. Centro 16
de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile7. 17 Departments of Neuroscience and Physiology, Columbia University, New York, NY 100328. Department of 18 Physiology, The Johns Hopkins University School of Medicine, Baltimore, MD 212059. Semel Institute for 19
Neuroscience and Human Behavior and Department of Psychology, UCLA, Los Angeles, CA, 9009510. Departments 20 of Psychiatry and Neuroscience, University of Pittsburgh, Pittsburgh, PA, 1521311. 21
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25 #Address Correspondence to VF ([email protected]) ORCID 0000-0002-2114-5271 26
* These authors contributed equally ** Lead Contact 27
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