A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

Autor: Rubenstein, John, Sun, Y, Paşca, SP, Portmann, T, Goold, C, Worringer, KA, Guan, W, Chan, KC, Gai, H, Vogt, D, Chen, YJJ

Publikováno v: Rubenstein, John; Sun, Y; Paşca, SP; Portmann, T; Goold, C; Worringer, KA; et al.(2016). A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/6tg8x02v

© Sun et al.Dravet Syndrome is an intractable form of childhood epilepsy associated with deleterious mutations in SCN1A, the gene encoding neuronal sodium channel Nav1.1. Earlier studies using human induced pluripotent stem cells (iPSCs) have produc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::f3958d48e976fb029591f6e3fb20e1ba
http://www.escholarship.org/uc/item/6tg8x02v

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Natural variation in gene expression and viral susceptibility revealed by neural progenitor cell villages.

Autor: Wells MF; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, and Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA; Department of Human Genetics, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, CA 90095, USA; Molecular Biology Institute, University of California, Los Angeles, Los Angeles, CA 90095, USA., Nemesh J; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Ghosh S; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Mitchell JM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, and Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA; Insitro, South San Francisco, CA 94080, USA., Salick MR; Insitro, South San Francisco, CA 94080, USA., Mello CJ; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Meyer D; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Pietilainen O; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, and Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA., Piccioni F; Genetic Perturbation Platform, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA., Guss EJ; Department of Stem Cell and Regenerative Biology, and Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA., Raghunathan K; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, and Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA., Tegtmeyer M; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA., Hawes D; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA., Neumann A; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA., Worringer KA; Department of Neuroscience, Novartis Institute for BioMedical Research, Cambridge, MA 02139, USA., Ho D; Department of Neuroscience, Novartis Institute for BioMedical Research, Cambridge, MA 02139, USA., Kommineni S; Department of Neuroscience, Novartis Institute for BioMedical Research, Cambridge, MA 02139, USA., Chan K; Department of Neuroscience, Novartis Institute for BioMedical Research, Cambridge, MA 02139, USA., Peterson BK; Department of Neuroscience, Novartis Institute for BioMedical Research, Cambridge, MA 02139, USA., Raymond JJ; Department of Neuroscience, Novartis Institute for BioMedical Research, Cambridge, MA 02139, USA., Gold JT; Department of Stem Cell and Regenerative Biology, and Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA; Department of Biology, Davidson College, Davidson, NC 28035, USA., Siekmann MT; Department of Stem Cell and Regenerative Biology, and Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA., Zuccaro E; Department of Stem Cell and Regenerative Biology, and Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA., Nehme R; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, and Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA., Kaykas A; Insitro, South San Francisco, CA 94080, USA., Eggan K; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, and Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA. Electronic address: kevin.eggan@bmrn.com., McCarroll SA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. Electronic address: smccarro@broadinstitute.org.

Publikováno v: Cell stem cell [Cell Stem Cell] 2023 Mar 02; Vol. 30 (3), pp. 312-332.e13. Date of Electronic Publication: 2023 Feb 15.

Genome-Scale CRISPR Screens Identify Human Pluripotency-Specific Genes.

Autor: Ihry RJ; Department of Neuroscience, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA. Electronic address: robert.ihry@novartis.com., Salick MR; Department of Neuroscience, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA; Insitro, South San Francisco, CA 94080, USA., Ho DJ; Department of Neuroscience, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA., Sondey M; Department of Neuroscience, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA; Abbvie, Cambridge, MA 02139, USA., Kommineni S; Department of Neuroscience, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA; Casma Therapeutics, Cambridge, MA 02139, USA., Paula S; Department of Chemical Biology and Therapeutics, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA., Raymond J; Department of Neuroscience, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA., Henry B; Department of Neuroscience, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA., Frias E; Department of Chemical Biology and Therapeutics, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA., Wang Q; Department of Chemical Biology and Therapeutics, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA., Worringer KA; Department of Neuroscience, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA., Ye C; Department of Neuroscience, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA; Blueprint Medicines, Cambridge, MA 02139, USA., Russ C; Department of Chemical Biology and Therapeutics, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA., Reece-Hoyes JS; Department of Chemical Biology and Therapeutics, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA., Altshuler RC; Department of Neuroscience, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA., Randhawa R; Department of Neuroscience, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA; Axcella Health, Cambridge, MA 02139, USA., Yang Z; Department of Chemical Biology and Therapeutics, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA; University of Massachusetts Medical School, Worcester, MA 01655, USA., McAllister G; Department of Chemical Biology and Therapeutics, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA; Sana Biotechnology, Cambridge, MA 02139, USA., Hoffman GR; Department of Chemical Biology and Therapeutics, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA; Sana Biotechnology, Cambridge, MA 02139, USA., Dolmetsch R; Department of Neuroscience, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA., Kaykas A; Department of Neuroscience, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA; Insitro, South San Francisco, CA 94080, USA. Electronic address: akaykas@gmail.com.

Publikováno v: Cell reports [Cell Rep] 2019 Apr 09; Vol. 27 (2), pp. 616-630.e6.

Combining NGN2 Programming with Developmental Patterning Generates Human Excitatory Neurons with NMDAR-Mediated Synaptic Transmission.

Autor: Nehme R; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA., Zuccaro E; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA., Ghosh SD; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA., Li C; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., Sherwood JL; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA., Pietilainen O; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA., Barrett LE; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA., Limone F; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA., Worringer KA; Novartis Institutes for Biomedical Research, Novartis, Cambridge, MA 02139, USA., Kommineni S; Novartis Institutes for Biomedical Research, Novartis, Cambridge, MA 02139, USA., Zang Y; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., Cacchiarelli D; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA., Meissner A; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA., Adolfsson R; Umea University, Faculty of Medicine, Department of Clinical Sciences, Psychiatry, 901 85 Umea, Sweden., Haggarty S; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA., Madison J; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., Muller M; Novartis Institutes for Biomedical Research, Novartis, 4056 Basel, Switzerland., Arlotta P; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA., Fu Z; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., Feng G; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; McGovern Institute for Brain Research in the Department of Brain and Cognitive Sciences at MIT, Cambridge, MA 02139, USA., Eggan K; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA. Electronic address: eggan@mcb.harvard.edu.

Publikováno v: Cell reports [Cell Rep] 2018 May 22; Vol. 23 (8), pp. 2509-2523.