المؤلفون: Taira R; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Highashi-ku, Fukuoka, 812-8582, Japan.; Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan., Akamine S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Highashi-ku, Fukuoka, 812-8582, Japan., Okuzono S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Highashi-ku, Fukuoka, 812-8582, Japan., Fujii F; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Highashi-ku, Fukuoka, 812-8582, Japan., Hatai E; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Highashi-ku, Fukuoka, 812-8582, Japan., Yonemoto K; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Highashi-ku, Fukuoka, 812-8582, Japan., Takemoto R; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Highashi-ku, Fukuoka, 812-8582, Japan., Kato H; Department of Molecular Cell Biology and Oral Anatomy, Graduate School of Dental Science, Kyushu University, Fukuoka, Japan., Masuda K; Section of Oral Medicine for Children, Division of Oral Health, Growth and Development, Faculty of Dental Science, Kyushu University, Fukuoka, Japan., Kato TA; Department of Neuropsychiatry, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Kira R; Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan., Tsujimura K; Group of Brain Function and Development, Neuroscience Institute of the Graduate School of Science, Nagoya University, Aichi, Japan.; Research Unit for Developmental Disorders, Institute for Advanced Research, Nagoya University, Nagoya, Japan.; Shionogi Pharma Co., Ltd., Settsu, Osaka, Japan., Yamamura K; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Highashi-ku, Fukuoka, 812-8582, Japan., Ozaki N; Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Nagoya, Japan., Ohga S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Highashi-ku, Fukuoka, 812-8582, Japan., Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Highashi-ku, Fukuoka, 812-8582, Japan. sakai.yasunari.530@m.kyushu-u.ac.jp.

المصدر: Scientific reports [Sci Rep] 2024 Jul 24; Vol. 14 (1), pp. 17097. Date of Electronic Publication: 2024 Jul 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: GTP-Binding Protein alpha Subunits, Gi-Go*/metabolism , GTP-Binding Protein alpha Subunits, Gi-Go*/genetics , Neurons*/metabolism , Signal Transduction* , Induced Pluripotent Stem Cells*/metabolism , Induced Pluripotent Stem Cells*/cytology , rho GTP-Binding Proteins*/metabolism , rho GTP-Binding Proteins*/genetics , Cell Differentiation*, Humans ; Mice ; Animals ; rho-Associated Kinases/metabolism ; Organoids/metabolism ; Amides/pharmacology ; Pyridines

المؤلفون: Solis GP; Translational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Koval A; Translational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Valnohova J; Translational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Kazemzadeh A; Translational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Savitsky M; Translational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Katanaev VL; Translational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; School of Medicine and Life Sciences, Department of Pharmacy and Pharmacology, Far Eastern Federal University, Vladivostok, Russia.

المصدر: The Journal of clinical investigation [J Clin Invest] 2024 Jun 14; Vol. 134 (15). Date of Electronic Publication: 2024 Jun 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: GTP-Binding Protein alpha Subunits, Gi-Go*/genetics , GTP-Binding Protein alpha Subunits, Gi-Go*/metabolism, Animals ; Female ; Humans ; Male ; Brain Diseases/genetics ; Brain Diseases/metabolism ; Brain Diseases/pathology ; Drosophila melanogaster ; Guanine Nucleotide Exchange Factors/genetics ; Guanine Nucleotide Exchange Factors/metabolism ; HEK293 Cells ; Mutation

المؤلفون: Roy S; Department of Cellular and Molecular Medicine, University of California San Diego, San Diego, CA 92093, USA., Sinha S; Department of Cellular and Molecular Medicine, University of California San Diego, San Diego, CA 92093, USA., Silas AJ; Department of Cellular and Molecular Medicine, University of California San Diego, San Diego, CA 92093, USA., Ghassemian M; Department of Chemistry and Biochemistry, Biomolecular and Proteomics Mass Spectrometry Facility, University of California San Diego, San Diego, CA 92093, USA., Kufareva I; Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, San Diego, CA 92093, USA., Ghosh P; Department of Cellular and Molecular Medicine, University of California San Diego, San Diego, CA 92093, USA.; Department of Medicine, University of California San Diego, San Diego, CA 92093, USA.; Moores Comprehensive Cancer Center, University of California San Diego, San Diego, CA 92093, USA.

المصدر: Science signaling [Sci Signal] 2024 Jun 04; Vol. 17 (839), pp. eade8041. Date of Electronic Publication: 2024 Jun 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101465400 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1937-9145 (Electronic) Linking ISSN: 19450877 NLM ISO Abbreviation: Sci Signal Subsets: MEDLINE

مواضيع طبية MeSH: Signal Transduction* , GTP-Binding Protein alpha Subunits, Gi-Go*/metabolism , GTP-Binding Protein alpha Subunits, Gi-Go*/genetics , GTP-Binding Protein alpha Subunits, Gi-Go*/chemistry , Receptors, CXCR4*/metabolism , Receptors, CXCR4*/genetics, Phosphorylation ; Humans ; HEK293 Cells ; Epidermal Growth Factor/metabolism ; Epidermal Growth Factor/genetics ; Receptors, G-Protein-Coupled/metabolism ; Receptors, G-Protein-Coupled/genetics ; Animals

المؤلفون: Roy AJ; Department of Pharmacology and Toxicology (A.J.R., J.R.L., R.R.N.), Department of Microbiology and Molecular Genetics (A.J.R.), and Nicholas V. Perricone, M.D., Division of Dermatology, Department of Medicine (R.R.N.), Michigan State University, East Lansing, Michigan; Department of Translational Neuroscience (J.R.P., A.C.S., C.J.K., C.E.S.), Michigan State University, Grand Rapids, Michigan; Hauenstein Neuroscience Center, Mercy Health Saint Mary's, Grand Rapids, Michigan (C.E.S.); and Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research (Z.-T.D.O., T.M., A.R.B., M.S.-E.) and Department of Neurology (Z.-T.D.O., T.M., A.R.B., M.S.-E.), UMass Chan Medical School, Worcester, Massachusetts., Leipprandt JR; Department of Pharmacology and Toxicology (A.J.R., J.R.L., R.R.N.), Department of Microbiology and Molecular Genetics (A.J.R.), and Nicholas V. Perricone, M.D., Division of Dermatology, Department of Medicine (R.R.N.), Michigan State University, East Lansing, Michigan; Department of Translational Neuroscience (J.R.P., A.C.S., C.J.K., C.E.S.), Michigan State University, Grand Rapids, Michigan; Hauenstein Neuroscience Center, Mercy Health Saint Mary's, Grand Rapids, Michigan (C.E.S.); and Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research (Z.-T.D.O., T.M., A.R.B., M.S.-E.) and Department of Neurology (Z.-T.D.O., T.M., A.R.B., M.S.-E.), UMass Chan Medical School, Worcester, Massachusetts., Patterson JR; Department of Pharmacology and Toxicology (A.J.R., J.R.L., R.R.N.), Department of Microbiology and Molecular Genetics (A.J.R.), and Nicholas V. Perricone, M.D., Division of Dermatology, Department of Medicine (R.R.N.), Michigan State University, East Lansing, Michigan; Department of Translational Neuroscience (J.R.P., A.C.S., C.J.K., C.E.S.), Michigan State University, Grand Rapids, Michigan; Hauenstein Neuroscience Center, Mercy Health Saint Mary's, Grand Rapids, Michigan (C.E.S.); and Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research (Z.-T.D.O., T.M., A.R.B., M.S.-E.) and Department of Neurology (Z.-T.D.O., T.M., A.R.B., M.S.-E.), UMass Chan Medical School, Worcester, Massachusetts., Stoll AC; Department of Pharmacology and Toxicology (A.J.R., J.R.L., R.R.N.), Department of Microbiology and Molecular Genetics (A.J.R.), and Nicholas V. Perricone, M.D., Division of Dermatology, Department of Medicine (R.R.N.), Michigan State University, East Lansing, Michigan; Department of Translational Neuroscience (J.R.P., A.C.S., C.J.K., C.E.S.), Michigan State University, Grand Rapids, Michigan; Hauenstein Neuroscience Center, Mercy Health Saint Mary's, Grand Rapids, Michigan (C.E.S.); and Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research (Z.-T.D.O., T.M., A.R.B., M.S.-E.) and Department of Neurology (Z.-T.D.O., T.M., A.R.B., M.S.-E.), UMass Chan Medical School, Worcester, Massachusetts., Kemp CJ; Department of Pharmacology and Toxicology (A.J.R., J.R.L., R.R.N.), Department of Microbiology and Molecular Genetics (A.J.R.), and Nicholas V. Perricone, M.D., Division of Dermatology, Department of Medicine (R.R.N.), Michigan State University, East Lansing, Michigan; Department of Translational Neuroscience (J.R.P., A.C.S., C.J.K., C.E.S.), Michigan State University, Grand Rapids, Michigan; Hauenstein Neuroscience Center, Mercy Health Saint Mary's, Grand Rapids, Michigan (C.E.S.); and Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research (Z.-T.D.O., T.M., A.R.B., M.S.-E.) and Department of Neurology (Z.-T.D.O., T.M., A.R.B., M.S.-E.), UMass Chan Medical School, Worcester, Massachusetts., Oula ZD; Department of Pharmacology and Toxicology (A.J.R., J.R.L., R.R.N.), Department of Microbiology and Molecular Genetics (A.J.R.), and Nicholas V. Perricone, M.D., Division of Dermatology, Department of Medicine (R.R.N.), Michigan State University, East Lansing, Michigan; Department of Translational Neuroscience (J.R.P., A.C.S., C.J.K., C.E.S.), Michigan State University, Grand Rapids, Michigan; Hauenstein Neuroscience Center, Mercy Health Saint Mary's, Grand Rapids, Michigan (C.E.S.); and Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research (Z.-T.D.O., T.M., A.R.B., M.S.-E.) and Department of Neurology (Z.-T.D.O., T.M., A.R.B., M.S.-E.), UMass Chan Medical School, Worcester, Massachusetts., Mola T; Department of Pharmacology and Toxicology (A.J.R., J.R.L., R.R.N.), Department of Microbiology and Molecular Genetics (A.J.R.), and Nicholas V. Perricone, M.D., Division of Dermatology, Department of Medicine (R.R.N.), Michigan State University, East Lansing, Michigan; Department of Translational Neuroscience (J.R.P., A.C.S., C.J.K., C.E.S.), Michigan State University, Grand Rapids, Michigan; Hauenstein Neuroscience Center, Mercy Health Saint Mary's, Grand Rapids, Michigan (C.E.S.); and Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research (Z.-T.D.O., T.M., A.R.B., M.S.-E.) and Department of Neurology (Z.-T.D.O., T.M., A.R.B., M.S.-E.), UMass Chan Medical School, Worcester, Massachusetts., Batista AR; Department of Pharmacology and Toxicology (A.J.R., J.R.L., R.R.N.), Department of Microbiology and Molecular Genetics (A.J.R.), and Nicholas V. Perricone, M.D., Division of Dermatology, Department of Medicine (R.R.N.), Michigan State University, East Lansing, Michigan; Department of Translational Neuroscience (J.R.P., A.C.S., C.J.K., C.E.S.), Michigan State University, Grand Rapids, Michigan; Hauenstein Neuroscience Center, Mercy Health Saint Mary's, Grand Rapids, Michigan (C.E.S.); and Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research (Z.-T.D.O., T.M., A.R.B., M.S.-E.) and Department of Neurology (Z.-T.D.O., T.M., A.R.B., M.S.-E.), UMass Chan Medical School, Worcester, Massachusetts., Sortwell CE; Department of Pharmacology and Toxicology (A.J.R., J.R.L., R.R.N.), Department of Microbiology and Molecular Genetics (A.J.R.), and Nicholas V. Perricone, M.D., Division of Dermatology, Department of Medicine (R.R.N.), Michigan State University, East Lansing, Michigan; Department of Translational Neuroscience (J.R.P., A.C.S., C.J.K., C.E.S.), Michigan State University, Grand Rapids, Michigan; Hauenstein Neuroscience Center, Mercy Health Saint Mary's, Grand Rapids, Michigan (C.E.S.); and Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research (Z.-T.D.O., T.M., A.R.B., M.S.-E.) and Department of Neurology (Z.-T.D.O., T.M., A.R.B., M.S.-E.), UMass Chan Medical School, Worcester, Massachusetts., Sena-Esteves M; Department of Pharmacology and Toxicology (A.J.R., J.R.L., R.R.N.), Department of Microbiology and Molecular Genetics (A.J.R.), and Nicholas V. Perricone, M.D., Division of Dermatology, Department of Medicine (R.R.N.), Michigan State University, East Lansing, Michigan; Department of Translational Neuroscience (J.R.P., A.C.S., C.J.K., C.E.S.), Michigan State University, Grand Rapids, Michigan; Hauenstein Neuroscience Center, Mercy Health Saint Mary's, Grand Rapids, Michigan (C.E.S.); and Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research (Z.-T.D.O., T.M., A.R.B., M.S.-E.) and Department of Neurology (Z.-T.D.O., T.M., A.R.B., M.S.-E.), UMass Chan Medical School, Worcester, Massachusetts., Neubig RR; Department of Pharmacology and Toxicology (A.J.R., J.R.L., R.R.N.), Department of Microbiology and Molecular Genetics (A.J.R.), and Nicholas V. Perricone, M.D., Division of Dermatology, Department of Medicine (R.R.N.), Michigan State University, East Lansing, Michigan; Department of Translational Neuroscience (J.R.P., A.C.S., C.J.K., C.E.S.), Michigan State University, Grand Rapids, Michigan; Hauenstein Neuroscience Center, Mercy Health Saint Mary's, Grand Rapids, Michigan (C.E.S.); and Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research (Z.-T.D.O., T.M., A.R.B., M.S.-E.) and Department of Neurology (Z.-T.D.O., T.M., A.R.B., M.S.-E.), UMass Chan Medical School, Worcester, Massachusetts RNeubig@msu.edu.

المصدر: The Journal of pharmacology and experimental therapeutics [J Pharmacol Exp Ther] 2024 Jul 18; Vol. 390 (2), pp. 250-259. Date of Electronic Publication: 2024 Jul 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Pharmacology and Experimental Therapeutics Country of Publication: United States NLM ID: 0376362 Publication Model: Electronic Cited Medium: Internet ISSN: 1521-0103 (Electronic) Linking ISSN: 00223565 NLM ISO Abbreviation: J Pharmacol Exp Ther Subsets: MEDLINE

مواضيع طبية MeSH: GTP-Binding Protein alpha Subunits, Gi-Go*/genetics , Dependovirus*/genetics , Heterozygote*, Animals ; Mice ; Humans ; Male ; Genetic Vectors/administration & dosage ; Genetic Vectors/genetics ; Hyperkinesis/genetics ; Mutation ; Genetic Therapy/methods ; Mice, Inbred C57BL ; Locomotion/genetics

المؤلفون: Ludlam WG; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA., Soliani L; IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.; Dipartimento Di Scienze Mediche E Chirurgiche (DIMEC), Università Di Bologna, Bologna, Italy., Domínguez-Carral J; Epilepsy Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Cordelli DM; IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.; Dipartimento Di Scienze Mediche E Chirurgiche (DIMEC), Università Di Bologna, Bologna, Italy., Marchiani V; IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy., Gorría-Redondo N; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Navarra, Pamplona, Spain.; Navarrabiomed Biomedical Research Center, Pamplona, Spain., Aguilera-Albesa S; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Navarra, Pamplona, Spain.; Navarrabiomed Biomedical Research Center, Pamplona, Spain., Martemyanov KA; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA. kmartemyanov@ufl.edu.; Department of Neuroscience, The Scripps Research Institute, Jupiter, FL, 33458, USA. kmartemyanov@ufl.edu., Ortigoza-Escobar JD; Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. juandario.ortigoza@sjd.es.; U-703 Center for Biomedical Research On Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. juandario.ortigoza@sjd.es.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain. juandario.ortigoza@sjd.es.; Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Passeig Sant Joan de Déu 2, 08950, Barcelona, Spain. juandario.ortigoza@sjd.es.

المصدر: Journal of neurology [J Neurol] 2024 Jul; Vol. 271 (7), pp. 3777-3781. Date of Electronic Publication: 2024 May 10.

نوع المنشور: Letter

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy* , GTP-Binding Protein alpha Subunits, Gi-Go*/genetics, Humans ; Autistic Disorder ; Male

المؤلفون: Guo L; Stomatology Clinic, MeiZhou People's Hospital, Meizhou Academy of Medical Sciences, Meizhou, Guangdong 514000, China. Electronic address: Guoling_2021@163.com., Sun H; Stomatology Clinic, MeiZhou People's Hospital, Meizhou Academy of Medical Sciences, Meizhou, Guangdong 514000, China., Pu J; Stomatology Clinic, MeiZhou People's Hospital, Meizhou Academy of Medical Sciences, Meizhou, Guangdong 514000, China.

المصدر: Archives of oral biology [Arch Oral Biol] 2024 Jul; Vol. 163, pp. 105974. Date of Electronic Publication: 2024 Apr 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Pergamon Press Country of Publication: England NLM ID: 0116711 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1506 (Electronic) Linking ISSN: 00039969 NLM ISO Abbreviation: Arch Oral Biol Subsets: MEDLINE

مواضيع طبية MeSH: Cell Differentiation*/drug effects , Inflammasomes*/metabolism , NF-kappa B*/metabolism , NLR Family, Pyrin Domain-Containing 3 Protein*/metabolism , Osteogenesis*/drug effects , Periodontal Ligament*/cytology , Periodontal Ligament*/metabolism , RNA-Binding Proteins*/metabolism , Stem Cells*/metabolism , Stem Cells*/drug effects , GTP-Binding Protein alpha Subunits, Gi-Go*/metabolism, Humans ; Apoptosis/drug effects ; Blotting, Western ; Cells, Cultured ; Enzyme-Linked Immunosorbent Assay ; Flow Cytometry ; Inflammation/metabolism ; Lipopolysaccharides/pharmacology ; Periodontitis/metabolism ; Real-Time Polymerase Chain Reaction ; Signal Transduction

المؤلفون: Falsaperla R; Neonatal Intensive Care Unit and Neonatal Accompaniment Unit, Azienda Ospedaliero-Universitaria Policlinico 'Rodolico-San Marco', San Marco Hospital, University of Catania, Catania, Italy. raffaelefalsaperla@hotmail.com.; Unit of Clinical Paediatrics, Azienda Ospedaliero-Universitaria Policlinico, 'Rodolico-San Marco', San Marco Hospital, Catania, Italy. raffaelefalsaperla@hotmail.com.; Pediatric Clinic, University of Ferrara, Ferrara, Italy. raffaelefalsaperla@hotmail.com., Sortino V; Unit of Clinical Paediatrics, Azienda Ospedaliero-Universitaria Policlinico, 'Rodolico-San Marco', San Marco Hospital, Catania, Italy., Marino SD; Unit of Clinical Paediatrics, Azienda Ospedaliero-Universitaria Policlinico, 'Rodolico-San Marco', San Marco Hospital, Catania, Italy., Collotta AD; Unit of Clinical Paediatrics, Azienda Ospedaliero-Universitaria Policlinico, 'Rodolico-San Marco', San Marco Hospital, Catania, Italy.; Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Gammeri C; Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Sipala FM; Department of Drug and Health Sciences, University of Catania, Viale A. Doria 6, 95125, Catania, Italy., Volti GL; Department of Biomedical and Biotechnological Sciences, University of Catania, Via S. Sofia 87, 95125, Catania, Italy., Ruggieri M; Unit of Clinical Pediatrics, Unit of Rare Diseases, AOU 'Policlinico', PO 'G. Rodolico', University of Catania, Catania, Italy., Ronsisvalle S; Department of Drug and Health Sciences, University of Catania, Viale A. Doria 6, 95125, Catania, Italy.

المصدر: Molecular diagnosis & therapy [Mol Diagn Ther] 2024 May; Vol. 28 (3), pp. 329-337. Date of Electronic Publication: 2024 Apr 06.

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

بيانات الدورية: Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 101264260 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-2000 (Electronic) Linking ISSN: 11771062 NLM ISO Abbreviation: Mol Diagn Ther Subsets: MEDLINE

مواضيع طبية MeSH: Molecular Dynamics Simulation* , GTP-Binding Protein alpha Subunits, Gi-Go*/genetics , GTP-Binding Protein alpha Subunits, Gi-Go*/metabolism , Tetrabenazine*/therapeutic use, Humans ; Mutation ; Brain Diseases/drug therapy ; Brain Diseases/genetics ; Precision Medicine/methods ; Signal Transduction/drug effects

المؤلفون: Lefevre TJ; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, Michigan, USA; Program in Chemical Biology, University of Michigan, Ann Arbor, Michigan, USA., Wei W; Department of Computational and Quantitative Medicine, Beckman Research Institute of the City of Hope, Duarte, California, USA., Mukhaleva E; Department of Computational and Quantitative Medicine, Beckman Research Institute of the City of Hope, Duarte, California, USA., Meda Venkata SP; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, Michigan, USA., Chandan NR; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, Michigan, USA; Genentech, South San Francisco, California, USA., Abraham S; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, Michigan, USA., Li Y; Department of Integrative Biology and Pharmacology McGovern Medical School, UTHealth, Houston, Texas, USA., Dessauer CW; Department of Integrative Biology and Pharmacology McGovern Medical School, UTHealth, Houston, Texas, USA., Vaidehi N; Department of Computational and Quantitative Medicine, Beckman Research Institute of the City of Hope, Duarte, California, USA., Smrcka AV; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, Michigan, USA. Electronic address: avsmrcka@umich.edu.

المصدر: The Journal of biological chemistry [J Biol Chem] 2024 May; Vol. 300 (5), pp. 107211. Date of Electronic Publication: 2024 Mar 22.

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: GTP-Binding Protein alpha Subunits, Gi-Go*/metabolism , GTP-Binding Protein alpha Subunits, Gi-Go*/chemistry , GTP-Binding Protein alpha Subunits, Gi-Go*/genetics , Signal Transduction*, Humans ; Molecular Dynamics Simulation ; GTP-Binding Protein alpha Subunit, Gi2/metabolism ; GTP-Binding Protein alpha Subunit, Gi2/genetics ; GTP-Binding Protein alpha Subunit, Gi2/chemistry ; HEK293 Cells ; Protein Domains ; Protein Stability ; Protein Binding

المؤلفون: Jarysta A; The Jackson Laboratory, Bar Harbor, United States., Tadenev ALD; The Jackson Laboratory, Bar Harbor, United States., Day M; The Jackson Laboratory, Bar Harbor, United States., Krawchuk B; The Jackson Laboratory, Bar Harbor, United States., Low BE; The Jackson Laboratory, Bar Harbor, United States., Wiles MV; The Jackson Laboratory, Bar Harbor, United States., Tarchini B; The Jackson Laboratory, Bar Harbor, United States.; Tufts University School of Medicine, Boston, United States.

المصدر: ELife [Elife] 2024 Apr 23; Vol. 12. Date of Electronic Publication: 2024 Apr 23.

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

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: GTP-Binding Protein alpha Subunits, Gi-Go*/metabolism , GTP-Binding Protein alpha Subunits, Gi-Go*/genetics , Morphogenesis* , Hair Cells, Auditory*/metabolism , Hair Cells, Auditory*/physiology, Animals ; Mice ; Cell Polarity ; GTP-Binding Protein alpha Subunit, Gi2/metabolism ; GTP-Binding Protein alpha Subunit, Gi2/genetics

المؤلفون: Monje MHG; Ken and Ruth Davee Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Blackburn JS; Division of Child Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, Chicago, Illinois, USA., Kinsley L; Ken and Ruth Davee Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Krainc D; Ken and Ruth Davee Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.; Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Mencacci NE; Ken and Ruth Davee Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.; Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 May; Vol. 39 (5), pp. 918-920. Date of Electronic Publication: 2024 Feb 28.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Dystonia*/genetics , GTP-Binding Protein alpha Subunits, Gi-Go*/genetics, Humans ; Male ; Female ; Severity of Illness Index