المؤلفون: Manoli I; Metabolic Medicine Branch, National Human Genome Research Institute., Sysol JR; Metabolic Medicine Branch, National Human Genome Research Institute., Head PE; Metabolic Medicine Branch, National Human Genome Research Institute., Epping MW; Metabolic Medicine Branch, National Human Genome Research Institute., Gavrilova O; Mouse Metabolism Core, National Institute of Diabetes and Digestive and Kidney Diseases., Crocker MK; Section on Growth and Obesity, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and., Sloan JL; Metabolic Medicine Branch, National Human Genome Research Institute., Koutsoukos SA; Metabolic Medicine Branch, National Human Genome Research Institute., Wang C; Metabolic Medicine Branch, National Human Genome Research Institute., Ktena YP; Metabolic Medicine Branch, National Human Genome Research Institute., Mendelson S; Section on Growth and Obesity, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and., Pass AR; Metabolic Medicine Branch, National Human Genome Research Institute., Zerfas PM; Office of Research Services, Division of Veterinary Resources, NIH, Bethesda, Maryland, USA., Hoffmann V; Office of Research Services, Division of Veterinary Resources, NIH, Bethesda, Maryland, USA., Vernon HJ; Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Fletcher LA; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases., Reynolds JC; Radiology and Imaging Sciences Department, Clinical Center., Tsokos MG; Ultrastructural Pathology Section, Center for Cancer Research; and., Stratakis CA; Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Voss SD; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Chen KY; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases., Brown RJ; Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases., Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Berry GT; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Chen XS; Laboratory of Molecular Imaging and Nanomedicine, National Institute of Biomedical Imaging and Bioengineering, NIH, Bethesda, Maryland, USA., Yanovski JA; Section on Growth and Obesity, Eunice Kennedy Shriver National Institute of Child Health and Human Development; and., Venditti CP; Metabolic Medicine Branch, National Human Genome Research Institute.

المصدر: JCI insight [JCI Insight] 2024 Feb 22; Vol. 9 (4). Date of Electronic Publication: 2024 Feb 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/complications , Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/metabolism , Fibroblast Growth Factors* , Lipodystrophy*, Animals ; Humans ; Mice ; Mice, Transgenic

SCR Disease Name: Methylmalonic acidemia

المؤلفون: Bourges C; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK.; Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Cambridge, UK., Groff AF; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA., Burren OS; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK.; Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Cambridge, UK., Gerhardinger C; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA., Mattioli K; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA., Hutchinson A; MRC Biostatistics Unit, Cambridge Institute of Public Health, Cambridge, UK., Hu T; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK.; Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Cambridge, UK., Anand T; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK.; Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Cambridge, UK., Epping MW; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK.; Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Cambridge, UK., Wallace C; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK.; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA., Smith KG; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK.; Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Cambridge, UK., Rinn JL; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA.; Department of Biochemistry, BioFrontiers Institute, University of Colorado, Boulder, CO, USA., Lee JC; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK.; Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Cambridge, UK.; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA.

المصدر: EMBO molecular medicine [EMBO Mol Med] 2020 May 08; Vol. 12 (5), pp. e12112. Date of Electronic Publication: 2020 Apr 01.

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

بيانات الدورية: Publisher: EMBO Press Country of Publication: England NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: CD4-Positive T-Lymphocytes* , NF-kappa B*, Autoimmunity ; Humans ; Polymorphism, Single Nucleotide

المؤلفون: Manoli I; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Sysol JR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Epping MW; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Li L; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Wang C; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Sloan JL; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Pass A; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Gagné J; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Ktena YP; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Li L; Kidney Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland, USA., Trivedi NS; Genome Technology Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Ouattara B; Sherbrooke Research and Development Centre, Agriculture and Agri-Food Canada, Sherbrooke, Quebec, Canada.; Péléforo Gbon Coulibaly University, Korhogo, Ivory Coast., Zerfas PM; Office of Research Services, NIH, Bethesda, Maryland, USA., Hoffmann V; Office of Research Services, NIH, Bethesda, Maryland, USA., Abu-Asab M; Ultrastructural Pathology Section, Center for Cancer Research, NIH, Bethesda, Maryland, USA., Tsokos MG; Ultrastructural Pathology Section, Center for Cancer Research, NIH, Bethesda, Maryland, USA., Kleiner DE; Laboratory of Pathology, National Cancer Institute, NIH, Bethesda, Maryland, USA., Garone C; Department of Neurology, Columbia University Medical Center, New York, New York, USA., Cusmano-Ozog K; Division of Medical Genetics, Stanford University, Stanford, California, USA., Enns GM; Division of Medical Genetics, Stanford University, Stanford, California, USA., Vernon HJ; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Andersson HC; Hayward Genetics Center, Tulane University Medical School, New Orleans, Louisiana, USA., Grunewald S; Department of Pediatric Metabolic Medicine, Great Ormond Street Hospital for Children Foundation Trust, Institute of Child Health, UCL, London, United Kingdom., Elkahloun AG; Genome Technology Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Girard CL; Sherbrooke Research and Development Centre, Agriculture and Agri-Food Canada, Sherbrooke, Quebec, Canada., Schnermann J; Kidney Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland, USA., DiMauro S; Department of Neurology, Columbia University Medical Center, New York, New York, USA., Andres-Mateos E; Grousbeck Gene Therapy Center, Schepens Eye Research Institute and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.; Ocular Genomics Institute, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA., Vandenberghe LH; Grousbeck Gene Therapy Center, Schepens Eye Research Institute and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.; Ocular Genomics Institute, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.; Harvard Stem Cell Institute, Harvard University, Cambridge, Massachusetts, USA.; Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Chandler RJ; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Venditti CP; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.

المصدر: JCI insight [JCI Insight] 2018 Dec 06; Vol. 3 (23). Date of Electronic Publication: 2018 Dec 06.

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

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

مواضيع طبية MeSH: Hormesis* , Stress, Physiological*, Amino Acid Metabolism, Inborn Errors/*metabolism , Fibroblast Growth Factors/*metabolism , Methylmalonyl-CoA Mutase/*metabolism, Amino Acid Metabolism, Inborn Errors/genetics ; Amino Acid Metabolism, Inborn Errors/pathology ; Animals ; Biomarkers/blood ; Disease Models, Animal ; Female ; Fibroblast Growth Factors/blood ; Genetic Therapy ; Humans ; Kidney Diseases/metabolism ; Liver/metabolism ; Liver/pathology ; Liver Transplantation ; Male ; Methylmalonyl-CoA Mutase/genetics ; Mice ; Mice, Knockout ; Mice, Transgenic ; Mitochondria/metabolism ; Mitochondria/pathology ; Phenotype ; Transcriptome

SCR Disease Name: Methylmalonic acidemia