المؤلفون: Aboheimed GI; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia; Department of Pharmacology, The School of Pharmacy, University College London, London, United Kingdom., AlRasheed MM; Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia., Almudimeegh S; Department of Pharmacology, The School of Pharmacy, University College London, London, United Kingdom; Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia., Peña-Guerra KA; Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia., Cardona-Londoño KJ; Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia., Salih MA; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia., Seidahmed MZ; Department of Pediatrics, Security Forces Hospital, Riyadh, Kingdom of Saudi Arabia., Al-Mohanna F; Department of Cell Biology, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia., Colak D; Department of Molecular Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia., Harvey RJ; School of Health and Behavioural Sciences, University of the Sunshine Coast, Maroochydore, Queensland, Australia; Sunshine Coast Health Institute, Birtinya, Queensland, Australia., Harvey K; Department of Pharmacology, The School of Pharmacy, University College London, London, United Kingdom., Arold ST; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France., Kaya N; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia. Electronic address: nkaya@kfshrc.edu.sa., Ruiz AJ; Department of Pharmacology, The School of Pharmacy, University College London, London, United Kingdom. Electronic address: a.ruiz@ucl.ac.uk.

المصدر: The Journal of biological chemistry [J Biol Chem] 2022 Jul; Vol. 298 (7), pp. 102018. Date of Electronic Publication: 2022 May 06.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Hyperekplexia*/genetics , Receptors, Glycine*/genetics, Humans ; Infant, Newborn ; Muscle Rigidity ; Mutation ; Mutation, Missense

المؤلفون: Giménez C; Departamento de Biología Molecular and Centro de Biología Molecular Severo Ochoa, (Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid), Madrid 28049, Spain., Pérez-Siles G, Martínez-Villarreal J, Arribas-González E, Jiménez E, Núñez E, de Juan-Sanz J, Fernández-Sánchez E, García-Tardón N, Ibáñez I, Romanelli V, Nevado J, James VM, Topf M, Chung SK, Thomas RH, Desviat LR, Aragón C, Zafra F, Rees MI, Lapunzina P, Harvey RJ, López-Corcuera B

المصدر: The Journal of biological chemistry [J Biol Chem] 2012 Aug 17; Vol. 287 (34), pp. 28986-9002. Date of Electronic Publication: 2012 Jun 29.

نوع المنشور: Clinical Trial; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Dominant* , Genetic Diseases, Inborn*/genetics , Genetic Diseases, Inborn*/metabolism , Glycine Plasma Membrane Transport Proteins*/genetics , Glycine Plasma Membrane Transport Proteins*/metabolism , Mutation, Missense* , Nerve Tissue Proteins*/genetics , Nerve Tissue Proteins*/metabolism , Nervous System Diseases*/genetics , Nervous System Diseases*/metabolism, Amino Acid Substitution ; Animals ; Female ; Glycine/genetics ; Glycine/metabolism ; Humans ; Ion Transport/genetics ; Male ; Presynaptic Terminals ; Protein Transport/genetics ; Spain ; United Kingdom

المؤلفون: Carta E; Department of Pharmacology, UCL School of Pharmacy, London WC1N 1AX, United Kingdom., Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ

المصدر: The Journal of biological chemistry [J Biol Chem] 2012 Aug 17; Vol. 287 (34), pp. 28975-85. Date of Electronic Publication: 2012 Jun 14.

نوع المنشور: Clinical Trial; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Diseases, Inborn*/genetics , Genetic Diseases, Inborn*/metabolism , Glycine Plasma Membrane Transport Proteins*/genetics , Glycine Plasma Membrane Transport Proteins*/metabolism , Mutation* , Nerve Tissue Proteins*/genetics , Nerve Tissue Proteins*/metabolism , Neurodegenerative Diseases*/genetics , Neurodegenerative Diseases*/metabolism, Glycine/*metabolism, Animals ; DNA Mutational Analysis ; Female ; Glycine/genetics ; Heterozygote ; Homozygote ; Humans ; Ion Transport/genetics ; Male ; Protein Structure, Tertiary ; Receptors, Glycine/genetics ; Receptors, Glycine/metabolism ; Xenopus laevis

المؤلفون: Tretter V; Department of Biochemistry and Molecular Biology, Center for Brain Research, Medical University Vienna, Spitalgasse 4, 1090 Vienna, Austria., Kerschner B, Milenkovic I, Ramsden SL, Ramerstorfer J, Saiepour L, Maric HM, Moss SJ, Schindelin H, Harvey RJ, Sieghart W, Harvey K

المصدر: The Journal of biological chemistry [J Biol Chem] 2011 Oct 28; Vol. 286 (43), pp. 37702-11. Date of Electronic Publication: 2011 Aug 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Carrier Proteins/*metabolism , Cell Membrane/*metabolism , GABAergic Neurons/*metabolism , Hippocampus/*metabolism , Membrane Proteins/*metabolism , Receptors, GABA-A/*metabolism , Synapses/*metabolism, Amino Acid Motifs ; Animals ; Carrier Proteins/genetics ; Cell Membrane/genetics ; GABAergic Neurons/cytology ; HEK293 Cells ; Hippocampus/cytology ; Humans ; Membrane Proteins/genetics ; Protein Structure, Tertiary ; Protein Transport/physiology ; Rats ; Receptors, GABA-A/genetics ; Synapses/genetics

المؤلفون: Kriebel M; Naturwissenschaftliches und Medizinisches Institut an der Universität Tübingen, 72770 Reutlingen, Germany., Metzger J, Trinks S, Chugh D, Harvey RJ, Harvey K, Volkmer H

المصدر: The Journal of biological chemistry [J Biol Chem] 2011 Jul 08; Vol. 286 (27), pp. 24385-93. Date of Electronic Publication: 2011 May 16.

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

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Axons/*metabolism , Cell Adhesion Molecules/*metabolism , Dentate Gyrus/*metabolism , Nerve Growth Factors/*metabolism , Receptors, GABA-A/*metabolism , Signal Transduction/*physiology, Animals ; Carrier Proteins/genetics ; Carrier Proteins/metabolism ; Cell Adhesion Molecules/genetics ; Dentate Gyrus/cytology ; Female ; Gene Knockdown Techniques ; HeLa Cells ; Humans ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Nerve Growth Factors/genetics ; Rats ; Rats, Sprague-Dawley ; Receptor, Fibroblast Growth Factor, Type 1/genetics ; Receptor, Fibroblast Growth Factor, Type 1/metabolism ; Receptors, GABA-A/genetics

المؤلفون: Chiou TT; Department of Physiology and Neurobiology, University of Connecticut, Storrs, Connecticut 06269, USA., Bonhomme B, Jin H, Miralles CP, Xiao H, Fu Z, Harvey RJ, Harvey K, Vicini S, De Blas AL

المصدر: The Journal of biological chemistry [J Biol Chem] 2011 Jun 24; Vol. 286 (25), pp. 22456-68. Date of Electronic Publication: 2011 May 03.

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

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Guanine Nucleotide Exchange Factors/*metabolism , Receptors, GABA-A/*metabolism , Synapses/*metabolism, Animals ; Carrier Proteins/metabolism ; Guanine Nucleotide Exchange Factors/chemistry ; HEK293 Cells ; Humans ; Inhibitory Postsynaptic Potentials ; Membrane Proteins/metabolism ; Neurons/metabolism ; Protein Isoforms/chemistry ; Protein Isoforms/metabolism ; Protein Transport ; Rats ; Rats, Sprague-Dawley ; Rho Guanine Nucleotide Exchange Factors ; Transfection ; gamma-Aminobutyric Acid/metabolism ; src Homology Domains

المؤلفون: Ogino K; Center for Frontier Research, National Institute of Genetics, 1111 Yata, Mishima 411-8540, Japan., Ramsden SL, Keib N, Schwarz G, Harvey RJ, Hirata H

المصدر: The Journal of biological chemistry [J Biol Chem] 2011 Jan 07; Vol. 286 (1), pp. 806-17. Date of Electronic Publication: 2010 Sep 14.

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

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Alternative Splicing* , Escape Reaction* , Gene Duplication*, Carrier Proteins/*genetics , Coenzymes/*biosynthesis , Membrane Proteins/*genetics , Metalloproteins/*biosynthesis , Receptors, Glycine/*chemistry , Zebrafish/*genetics, Amino Acid Sequence ; Animals ; Carrier Proteins/chemistry ; Carrier Proteins/metabolism ; Evolution, Molecular ; Gene Expression Regulation ; Humans ; Membrane Proteins/chemistry ; Membrane Proteins/metabolism ; Mice ; Molecular Sequence Data ; Molybdenum Cofactors ; Neurons/metabolism ; Protein Isoforms/chemistry ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Protein Multimerization ; Protein Structure, Quaternary ; Pteridines ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Rats ; Receptors, Glycine/metabolism ; Synapses/genetics ; Zebrafish/metabolism

المؤلفون: Saiepour L; Department of Pharmacology, The School of Pharmacy, University of London, 29-39 Brunswick Square, London WC1N 1AX, United Kingdom., Fuchs C, Patrizi A, Sassoè-Pognetto M, Harvey RJ, Harvey K

المصدر: The Journal of biological chemistry [J Biol Chem] 2010 Sep 17; Vol. 285 (38), pp. 29623-31. Date of Electronic Publication: 2010 Jul 09.

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

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Carrier Proteins/*metabolism , Guanine Nucleotide Exchange Factors/*metabolism , Membrane Proteins/*metabolism , Receptors, GABA-A/*metabolism, Blotting, Western ; Carrier Proteins/genetics ; Cell Line ; Guanine Nucleotide Exchange Factors/genetics ; Humans ; Immunohistochemistry ; Immunoprecipitation ; Membrane Proteins/genetics ; Microscopy, Confocal ; Models, Biological ; Mutagenesis, Site-Directed ; Protein Binding/genetics ; Protein Binding/physiology ; Receptors, GABA-A/genetics ; Rho Guanine Nucleotide Exchange Factors ; Two-Hybrid System Techniques

المؤلفون: Melzer N; From the Institut für Biochemie (Emil-Fischer-Zentrum), Universität Erlangen-Nürnberg, Erlangen 91054, Germany., Villmann C; From the Institut für Biochemie (Emil-Fischer-Zentrum), Universität Erlangen-Nürnberg, Erlangen 91054, Germany., Becker K; From the Institut für Biochemie (Emil-Fischer-Zentrum), Universität Erlangen-Nürnberg, Erlangen 91054, Germany., Harvey K; the Department of Pharmacology, The School of Pharmacy, London WC1N 1AX, United Kingdom, and., Harvey RJ; the Department of Pharmacology, The School of Pharmacy, London WC1N 1AX, United Kingdom, and., Vogel N; From the Institut für Biochemie (Emil-Fischer-Zentrum), Universität Erlangen-Nürnberg, Erlangen 91054, Germany., Kluck CJ; From the Institut für Biochemie (Emil-Fischer-Zentrum), Universität Erlangen-Nürnberg, Erlangen 91054, Germany., Kneussel M; the Zentrum für Molekulare Neurobiologie Hamburg, ZMNH, Universität Hamburg, Hamburg 20251, Germany., Becker CM; From the Institut für Biochemie (Emil-Fischer-Zentrum), Universität Erlangen-Nürnberg, Erlangen 91054, Germany. Electronic address: cmb@biochem.uni-erlangen.de.

المصدر: The Journal of biological chemistry [J Biol Chem] 2010 Feb 05; Vol. 285 (6), pp. 3730-3739. Date of Electronic Publication: 2009 Dec 03.

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

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Motifs*, Cell Nucleus/*metabolism , Receptors, Glycine/*metabolism, Active Transport, Cell Nucleus ; Adult ; Amino Acid Sequence ; Animals ; Binding Sites/genetics ; Blotting, Western ; Cell Line ; Cells, Cultured ; Green Fluorescent Proteins/genetics ; Green Fluorescent Proteins/metabolism ; Humans ; Microscopy, Confocal ; Molecular Sequence Data ; Neurons/cytology ; Neurons/metabolism ; Protein Binding ; Protein Subunits/genetics ; Protein Subunits/metabolism ; Protein Transport ; Rats ; Rats, Wistar ; Receptors, Glycine/genetics ; Sequence Homology, Amino Acid ; Two-Hybrid System Techniques ; alpha Karyopherins/genetics ; alpha Karyopherins/metabolism

المؤلفون: Rees MI; Department of Molecular Medicine, Faculty of Medical and Health Sciences, University of Auckland, Private bag 92019, New Zealand. m.rees@auckland.ac.nz, Harvey K, Ward H, White JH, Evans L, Duguid IC, Hsu CC, Coleman SL, Miller J, Baer K, Waldvogel HJ, Gibbon F, Smart TG, Owen MJ, Harvey RJ, Snell RG

المصدر: The Journal of biological chemistry [J Biol Chem] 2003 Jul 04; Vol. 278 (27), pp. 24688-96. Date of Electronic Publication: 2003 Apr 08.

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

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Print ISSN: 0021-9258 (Print) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Carrier Proteins/*genetics , Membrane Proteins/*genetics , Motor Neuron Disease/*genetics , Receptors, Glycine/*metabolism, Alternative Splicing ; Amino Acid Sequence ; Animals ; Binding Sites/genetics ; Carrier Proteins/metabolism ; Exons/genetics ; Genetic Variation ; Humans ; Membrane Proteins/metabolism ; Mice ; Molecular Sequence Data ; Motor Neuron Disease/metabolism ; Mutation ; Protein Binding ; Protein Isoforms/genetics ; Receptors, Glycine/genetics ; Sequence Alignment