المؤلفون: Kavanaugh BC; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, Rhode Island, USA.; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI, USA., Elacio J; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, Rhode Island, USA.; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI, USA., Best CR; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, Rhode Island, USA.; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI, USA., St Pierre DG; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, Rhode Island, USA.; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI, USA., Pescosolido MF; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, Rhode Island, USA.; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI, USA., Ouyang Q; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, Rhode Island, USA.; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI, USA., Biedermann J; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, Rhode Island, USA.; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI, USA., Bradley RS; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, Rhode Island, USA.; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI, USA., Liu JS; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, Rhode Island, USA.; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI, USA.; Department of Neurology, Rhode Island Hospital, Providence, Rhode Island, USA., Jones RN; Quantitative Sciences Program, Department of Psychiatry and Human Behavior and Department of Neurology, Brown University Warren Alpert Medical School, Providence, Rhode Island, USA., Morrow EM; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, Rhode Island, USA Eric_morrow@brown.edu.; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI, USA.

المصدر: Journal of medical genetics [J Med Genet] 2024 Sep 11. Date of Electronic Publication: 2024 Sep 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

المؤلفون: Dresselhaus EC; Department of Biology, Brandeis University, Waltham, MA, USA., Harris KP; Office of the Vice-Principal, Research and Innovation, University of Toronto Mississauga, Mississauga, Canada., Blanchette CR; Department of Biology, Brandeis University, Waltham, MA, USA., Koles K; Department of Biology, Brandeis University, Waltham, MA, USA., Del Signore SJ; Department of Biology, Brandeis University, Waltham, MA, USA., Pescosolido MF; Department of Biology, Brandeis University, Waltham, MA, USA., Ermanoska B; Department of Biology, Brandeis University, Waltham, MA, USA., Rozencwaig M; Department of Biology, Brandeis University, Waltham, MA, USA., Soslowsky RC; Department of Biology, Brandeis University, Waltham, MA, USA., Parisi MJ; Department of Neuroscience, Vickie and Jack Farber Institute of Neuroscience, Thomas Jefferson University, Philadelphia, PA, USA., Stewart BA; Department of Biology, University of Toronto Mississauga, Mississauga, Canada.; Department of Cell and Systems Biology, University of Toronto, Toronto, Canada., Mosca TJ; Department of Neuroscience, Vickie and Jack Farber Institute of Neuroscience, Thomas Jefferson University, Philadelphia, PA, USA., Rodal AA; Department of Biology, Brandeis University, Waltham, MA, USA.

المصدر: The Journal of cell biology [J Cell Biol] 2024 Sep 02; Vol. 223 (9). Date of Electronic Publication: 2024 Jun 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 0375356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-8140 (Electronic) Linking ISSN: 00219525 NLM ISO Abbreviation: J Cell Biol Subsets: MEDLINE

مواضيع طبية MeSH: Endosomal Sorting Complexes Required for Transport*/metabolism , Endosomal Sorting Complexes Required for Transport*/genetics , Extracellular Vesicles*/metabolism , Drosophila Proteins*/metabolism , Drosophila Proteins*/genetics , Signal Transduction* , Drosophila melanogaster*/metabolism , Synapses*/metabolism , Motor Neurons*/metabolism, Animals ; Autophagy ; Synaptotagmins/metabolism ; Synaptotagmins/genetics ; Neuroglia/metabolism

المؤلفون: Dresselhaus EC; Department of Biology, Brandeis University, Waltham, MA., Harris KP; Office of the Vice-Principal, Research and Innovation, University of Toronto, Mississauga, Mississauga, Canada., Blanchette CR; Department of Biology, Brandeis University, Waltham, MA., Koles K; Department of Biology, Brandeis University, Waltham, MA., Del Signore SJ; Department of Biology, Brandeis University, Waltham, MA., Pescosolido MF; Department of Biology, Brandeis University, Waltham, MA., Ermanoska B; Department of Biology, Brandeis University, Waltham, MA., Rozencwaig M; Department of Biology, Brandeis University, Waltham, MA., Soslowsky RC; Department of Biology, Brandeis University, Waltham, MA., Parisi MJ; Department of Neuroscience, Vickie and Jack Farber Institute of Neuroscience, Thomas Jefferson University, Bluemle Life Sciences Building, Philadelphia, PA., Stewart BA; Department of Biology, University of Toronto Mississauga, Mississauga, Canada; Department of Cell and Systems Biology University of Toronto, Toronto, Canada., Mosca TJ; Department of Neuroscience, Vickie and Jack Farber Institute of Neuroscience, Thomas Jefferson University, Bluemle Life Sciences Building, Philadelphia, PA., Rodal AA; Department of Biology, Brandeis University, Waltham, MA.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2024 May 05. Date of Electronic Publication: 2024 May 05.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: Kavanaugh BC, Elacio J, Best CR, St Pierre DG, Pescosolido MF, Ouyang Q, Caruso P, Buch K, Biedermann J, Bradley RS, Liu JS, Jones RN, Morrow EM

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Nov 12. Date of Electronic Publication: 2023 Nov 12.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Pescosolido MF; Department of Molecular Biology, Cell Biology and Biochemistry; and Carney Institute for Brain Science, Brown University, Laboratories for Molecular Medicine, Providence, RI, USA.; Center for Translational Neuroscience, Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI, USA., Ouyang Q; Department of Molecular Biology, Cell Biology and Biochemistry; and Carney Institute for Brain Science, Brown University, Laboratories for Molecular Medicine, Providence, RI, USA.; Center for Translational Neuroscience, Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI, USA., Liu JS; Department of Molecular Biology, Cell Biology and Biochemistry; and Carney Institute for Brain Science, Brown University, Laboratories for Molecular Medicine, Providence, RI, USA.; Center for Translational Neuroscience, Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI, USA.; Department of Neurology, Rhode Island Hospital, Providence, RI, USA., Morrow EM; Department of Molecular Biology, Cell Biology and Biochemistry; and Carney Institute for Brain Science, Brown University, Laboratories for Molecular Medicine, Providence, RI, USA. eric_morrow@brown.edu.; Center for Translational Neuroscience, Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI, USA. eric_morrow@brown.edu.

المصدر: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2023; Vol. 2683, pp. 213-220.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Exosomes*/metabolism, Multivesicular Bodies/metabolism ; Membrane Fusion ; Cell Communication ; Neurons

المؤلفون: Pescosolido MF; Department of Molecular Biology, Cell Biology and Biochemistry, Laboratories for Molecular Medicine, Brown University, 70 Ship Street, Providence, RI 02912.; Center for Translational Neuroscience, Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, 70 Ship Street, Providence, RI 02912., Ouyang Q; Department of Molecular Biology, Cell Biology and Biochemistry, Laboratories for Molecular Medicine, Brown University, 70 Ship Street, Providence, RI 02912.; Center for Translational Neuroscience, Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, 70 Ship Street, Providence, RI 02912., Liu JS; Department of Molecular Biology, Cell Biology and Biochemistry, Laboratories for Molecular Medicine, Brown University, 70 Ship Street, Providence, RI 02912.; Center for Translational Neuroscience, Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, 70 Ship Street, Providence, RI 02912.; Department of Neurology, Rhode Island Hospital, 593 Eddy Street, Providence, RI 02903., Morrow EM; Department of Molecular Biology, Cell Biology and Biochemistry, Laboratories for Molecular Medicine, Brown University, 70 Ship Street, Providence, RI 02912 eric_morrow@brown.edu.; Center for Translational Neuroscience, Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, 70 Ship Street, Providence, RI 02912.

المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2021 Nov 03; Vol. 41 (44), pp. 9235-9256. Date of Electronic Publication: 2021 Sep 15.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 8102140 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-2401 (Electronic) Linking ISSN: 02706474 NLM ISO Abbreviation: J Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Loss of Function Mutation*, Ataxia/*genetics , Endosomes/*metabolism , Epilepsy/*genetics , Genetic Diseases, X-Linked/*genetics , Intellectual Disability/*genetics , Lysosomes/*metabolism , Microcephaly/*genetics , Neurons/*metabolism , Ocular Motility Disorders/*genetics , Sodium-Hydrogen Exchangers/*genetics, Animals ; Cathepsin D/metabolism ; Cells, Cultured ; Hippocampus/cytology ; Mice ; Protein Transport ; Proteolysis ; Sodium-Hydrogen Exchangers/deficiency ; Sodium-Hydrogen Exchangers/metabolism

SCR Disease Name: Mental Retardation, X-Linked, Syndromic, Christianson Type

المؤلفون: Lizarraga SB; Department of Biological Sciences, University of South Carolina, Columbia, SC 29208, USA.; Center for Childhood Neurotherapeutics, University of South Carolina, Columbia, SC 29208, USA., Ma L; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI 02912, USA., Maguire AM; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.; Hassenfeld Child Health Innovation Institute, Brown University, Providence, RI 02912, USA., van Dyck LI; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA., Wu Q; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI 02912, USA.; Center for Computational Molecular Biology, Brown University, Providence, RI 02912, USA., Ouyang Q; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI 02912, USA., Kavanaugh BC; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI 02912, USA.; Hassenfeld Child Health Innovation Institute, Brown University, Providence, RI 02912, USA.; Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Emma Pendleton Bradley Hospital, East Providence, RI 02915, USA., Nagda D; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA., Livi LL; Department of Molecular Pharmacology, Physiology, and Biotechnology, Brown University, Providence, RI 02912, USA., Pescosolido MF; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI 02912, USA.; Hassenfeld Child Health Innovation Institute, Brown University, Providence, RI 02912, USA.; Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Emma Pendleton Bradley Hospital, East Providence, RI 02915, USA., Schmidt M; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI 02912, USA.; Hassenfeld Child Health Innovation Institute, Brown University, Providence, RI 02912, USA.; Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Emma Pendleton Bradley Hospital, East Providence, RI 02915, USA., Alabi S; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Cowen MH; Department of Biological Sciences, University of South Carolina, Columbia, SC 29208, USA.; Center for Childhood Neurotherapeutics, University of South Carolina, Columbia, SC 29208, USA., Brito-Vargas P; Department of Biological Sciences, University of South Carolina, Columbia, SC 29208, USA.; Center for Childhood Neurotherapeutics, University of South Carolina, Columbia, SC 29208, USA., Hoffman-Kim D; Department of Molecular Pharmacology, Physiology, and Biotechnology, Brown University, Providence, RI 02912, USA.; Robert J. and Nancy D. Carney Institute for Brain Science, Brown University, Providence, RI 02912, USA.; Center for Biomedical Engineering, Brown University, Providence, RI 02912, USA., Gamsiz Uzun ED; Center for Computational Molecular Biology, Brown University, Providence, RI 02912, USA.; Department of Pathology and Laboratory Medicine, Warren Alpert Medical School of Brown University, Providence, RI 02912, USA., Schlessinger A; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Jones RN; Quantitative Sciences Program, Department of Psychiatry and Human Behavior and Department of Neurology, Warren Alpert Medical School of Brown University, Providence, RI 02912, USA., Morrow EM; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA. eric_morrow@brown.edu.; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI 02912, USA.; Hassenfeld Child Health Innovation Institute, Brown University, Providence, RI 02912, USA.; Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Emma Pendleton Bradley Hospital, East Providence, RI 02915, USA.

المصدر: Science translational medicine [Sci Transl Med] 2021 Feb 10; Vol. 13 (580).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells* , Microcephaly*/genetics, Ataxia ; Epilepsy ; Genetic Diseases, X-Linked ; Humans ; Intellectual Disability ; Mutation/genetics ; Neurons ; Ocular Motility Disorders

SCR Disease Name: Mental Retardation, X-Linked, Syndromic, Christianson Type

المؤلفون: Pescosolido MF; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, USA.; Robert J. and Nancy D. Carney Institute for Brain Science, Brown University, Providence, Rhode Island, USA.; Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University and Emma Pendleton Bradley Hospital, East Providence, Rhode Island, USA.; Hassenfeld Child Health Innovation Institute, Brown University, Providence, Rhode Island, USA., Kavanaugh BC; Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University and Emma Pendleton Bradley Hospital, East Providence, Rhode Island, USA.; Hassenfeld Child Health Innovation Institute, Brown University, Providence, Rhode Island, USA., Pochet N; Ann Romney Center for Neurologic Diseases, Harvard Medical School and Brigham and Women's Hospital, Boston, Massachusetts, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA.; Cell Circuits Program, Broad Institute, Massachusetts Institute of Technology and Harvard University, Cambridge, Massachusetts, USA., Schmidt M; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, USA.; Robert J. and Nancy D. Carney Institute for Brain Science, Brown University, Providence, Rhode Island, USA.; Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University and Emma Pendleton Bradley Hospital, East Providence, Rhode Island, USA.; Hassenfeld Child Health Innovation Institute, Brown University, Providence, Rhode Island, USA., Jerskey BA; Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University and Emma Pendleton Bradley Hospital, East Providence, Rhode Island, USA., Rogg JM; Department of Diagnostic Imaging, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA., De Jager PL; Ann Romney Center for Neurologic Diseases, Harvard Medical School and Brigham and Women's Hospital, Boston, Massachusetts, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA.; Cell Circuits Program, Broad Institute, Massachusetts Institute of Technology and Harvard University, Cambridge, Massachusetts, USA., Young-Pearse TL; Ann Romney Center for Neurologic Diseases, Harvard Medical School and Brigham and Women's Hospital, Boston, Massachusetts, USA., Liu JS; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, USA.; Department of Neurology, Rhode Island Hospital, Providence, Rhode Island, USA., Morrow EM; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, USA.; Robert J. and Nancy D. Carney Institute for Brain Science, Brown University, Providence, Rhode Island, USA.; Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University and Emma Pendleton Bradley Hospital, East Providence, Rhode Island, USA.; Hassenfeld Child Health Innovation Institute, Brown University, Providence, Rhode Island, USA.

المصدر: Molecular neuropsychiatry [Mol Neuropsychiatry] 2019 Apr; Vol. 5 (2), pp. 98-108. Date of Electronic Publication: 2019 Mar 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101649121 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2296-9209 (Print) Linking ISSN: 22969179 NLM ISO Abbreviation: Mol Neuropsychiatry Subsets: PubMed not MEDLINE

المؤلفون: Xu M; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912.; Brown Institute for Brain Science, Brown University, Providence, RI 02912.; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital, East Providence, RI 02915., Ouyang Q; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912.; Brown Institute for Brain Science, Brown University, Providence, RI 02912.; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital, East Providence, RI 02915., Gong J; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912.; Brown Institute for Brain Science, Brown University, Providence, RI 02912., Pescosolido MF; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912.; Brown Institute for Brain Science, Brown University, Providence, RI 02912.; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital, East Providence, RI 02915., Pruett BS; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital, East Providence, RI 02915.; Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University, Providence, RI 02912., Mishra S; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912.; Brown Institute for Brain Science, Brown University, Providence, RI 02912.; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital, East Providence, RI 02915., Schmidt M; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912.; Brown Institute for Brain Science, Brown University, Providence, RI 02912.; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital, East Providence, RI 02915., Jones RN; Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University, Providence, RI 02912.; Department of Neurology, Warren Alpert Medical School of Brown University, Providence, RI 02912., Gamsiz Uzun ED; Department of Pathology and Laboratory Medicine, Warren Alpert Medical School of Brown University, Providence, RI 02912.; Center for Computational Molecular Biology, Brown University, Providence, RI 02912., Lizarraga SB; Department of Biological Sciences, University of South Carolina, Columbia, SC 29208.; Center for Childhood Neurotherapeutics, University of South Carolina, Columbia, SC 29208., Morrow EM; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912.; Brown Institute for Brain Science, Brown University, Providence, RI 02912.; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital, East Providence, RI 02915.; Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University, Providence, RI 02912.; Hassenfeld Child Health Innovation Institute, Brown University, Providence, RI 02912.

المصدر: ENeuro [eNeuro] 2018 Jan 17; Vol. 4 (6). Date of Electronic Publication: 2018 Jan 17 (Print Publication: 2017).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 101647362 Publication Model: eCollection Cited Medium: Internet ISSN: 2373-2822 (Electronic) Linking ISSN: 23732822 NLM ISO Abbreviation: eNeuro Subsets: MEDLINE

مواضيع طبية MeSH: Ataxia/*pathology , Brain/*growth & development , Brain/*pathology , Epilepsy/*pathology , Genetic Diseases, X-Linked/*pathology , Intellectual Disability/*pathology , Microcephaly/*pathology , Nerve Degeneration/*pathology , Ocular Motility Disorders/*pathology , Sodium-Hydrogen Exchangers/*deficiency, Aging/pathology ; Animals ; Animals, Newborn ; Disease Models, Animal ; Female ; Male ; Mice, Inbred C57BL ; Mice, Knockout ; Microglia/pathology ; Organ Size ; Sodium-Hydrogen Exchangers/genetics

SCR Disease Name: Mental Retardation, X-Linked, Syndromic, Christianson Type

المؤلفون: Gamsiz ED; Department of Molecular Biology, Cell Biology and Biochemistry (MCB), and Institute for Brain Science, Brown University, Providence, RI, USA., Sciarra LN, Maguire AM, Pescosolido MF, van Dyck LI, Morrow EM

المصدر: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2015 Jul; Vol. 12 (3), pp. 553-71.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Springer Country of Publication: United States NLM ID: 101290381 Publication Model: Print Cited Medium: Internet ISSN: 1878-7479 (Electronic) Linking ISSN: 18787479 NLM ISO Abbreviation: Neurotherapeutics Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Autism Spectrum Disorder/*genetics , Neurodevelopmental Disorders/*genetics, Autism Spectrum Disorder/physiopathology ; Brain/metabolism ; Brain/physiopathology ; Genetic Predisposition to Disease ; Humans ; Neurodevelopmental Disorders/physiopathology