المؤلفون: Caron-Godon CA; Department of Biology, University of Waterloo, Waterloo, ON N2L 3G1, Canada., Collington E; Department of Biology, University of Waterloo, Waterloo, ON N2L 3G1, Canada., Wolf JL; Department of Biology, University of Waterloo, Waterloo, ON N2L 3G1, Canada., Coletta G; Department of Biology, University of Waterloo, Waterloo, ON N2L 3G1, Canada., Glerum DM; Department of Biology, University of Waterloo, Waterloo, ON N2L 3G1, Canada.; Waterloo Institute for Nanotechnology, University of Waterloo, Waterloo, ON N2L 3G1, Canada.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 29; Vol. 25 (7). Date of Electronic Publication: 2024 Mar 29.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome-c Oxidase Deficiency* , Wine*, Humans ; Saccharomyces cerevisiae/genetics ; Bread ; Electron Transport Complex IV/genetics

المؤلفون: Thind S; Laboratory for Bioanalytics and Electrochemical Sensing, Department of Chemistry, University of Manitoba, Winnipeg, MB R3T 2N2, Canada., Lima D; Laboratory for Bioanalytics and Electrochemical Sensing, Department of Chemistry, University of Manitoba, Winnipeg, MB R3T 2N2, Canada., Booy E; Department of Chemistry, University of Manitoba, Winnipeg, MB R3T 2N2, Canada., Trinh D; Laboratoire des Sciences de l'Ingénieur Pour l'Environnement, UMR CNRS 7356, Université de La Rochelle, Pôle Sciences et Technologie 17042, La Rochelle, Cedex 1, France., McKenna SA; Department of Chemistry, University of Manitoba, Winnipeg, MB R3T 2N2, Canada., Kuss S; Laboratory for Bioanalytics and Electrochemical Sensing, Department of Chemistry, University of Manitoba, Winnipeg, MB R3T 2N2, Canada.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Jan 02; Vol. 121 (1), pp. e2310288120. Date of Electronic Publication: 2023 Dec 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome-c Oxidase Deficiency*/genetics, Infant ; Humans ; Adolescent ; Microscopy, Electrochemical, Scanning ; Quality of Life ; Electron Transport Complex IV/metabolism ; Fibroblasts/metabolism

المؤلفون: Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Garbellini M; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Magri F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Menni F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for expanded newborn screening, Milan, Italy., Meneri M; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Bedeschi MF; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Milan, Italy., Dilena R; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, UO Neurofisiopatologia, Milan, Italy., Cecchetti V; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neonatal Intensive Care Unit, Milan, Italy., Picciolli I; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neonatal Intensive Care Unit, Milan, Italy., Furlan F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for expanded newborn screening, Milan, Italy., Polimeni V; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neonatal Intensive Care Unit, Milan, Italy., Salani S; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Pezzoli L; ASST Papa Giovanni XXIII, Laboratorio di Genetica Medica, Bergamo, Italy., Fortunato F; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Bellini M; ASST Papa Giovanni XXIII, Laboratorio di Genetica Medica, Bergamo, Italy., Piga D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Ripolone M; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy., Zanotti S; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy., Napoli L; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy., Ciscato P; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy., Sciacco M; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy., Mangili G; ASST Papa Giovanni XXIII, Neonatology and NICU, Bergamo, Italy., Mosca F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neonatal Intensive Care Unit, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Corti S; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy., Iascone M; ASST Papa Giovanni XXIII, Laboratorio di Genetica Medica, Bergamo, Italy., Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. giacomo.comi@unimi.it.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy. giacomo.comi@unimi.it.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Dec; Vol. 31 (12), pp. 1414-1420. Date of Electronic Publication: 2023 Jul 19.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome-c Oxidase Deficiency*/genetics , Muscular Diseases*, Female ; Humans ; Infant ; Electron Transport Complex IV/genetics ; Electron Transport Complex IV/metabolism ; HEK293 Cells ; Mitochondrial Proteins/genetics ; Mutation

المؤلفون: Garone C; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna, Italy. caterina.garone@unibo.it.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età pediatrica, Bologna, Italia. caterina.garone@unibo.it.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Dec; Vol. 31 (12), pp. 1344-1345. Date of Electronic Publication: 2023 Oct 04.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome-c Oxidase Deficiency* , Muscular Diseases*, Infant, Newborn ; Pregnancy ; Female ; Humans ; Cytochromes c ; Mitochondria ; Heart

المؤلفون: Haroon S; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Yoon H; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Seiler C; Zebrafish Core, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Osei-Frimpong B; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., He J; Scheie Eye Center, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Nair RM; Scheie Eye Center, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Mathew ND; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Burg L; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kose M; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Venkata CRM; Scheie Eye Center, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Anderson VE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Nakamaru-Ogiso E; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

المصدر: Human molecular genetics [Hum Mol Genet] 2023 Jun 05; Vol. 32 (12), pp. 1988-2004.

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

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Leigh Disease*/drug therapy , Leigh Disease*/genetics , Leigh Disease*/metabolism , Cytochrome-c Oxidase Deficiency*, Animals ; Adult ; Humans ; Zebrafish/genetics ; Zebrafish/metabolism ; Acetylcysteine ; Cysteamine/pharmacology ; Azides/metabolism ; Brain Death ; Membrane Proteins/metabolism ; Mitochondrial Proteins/metabolism ; Electron Transport Complex IV/genetics ; Electron Transport Complex IV/metabolism ; Glutathione/metabolism ; Lactates

المؤلفون: Hedberg-Oldfors C; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden., Lindgren U; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.; Neuromuscular Center, Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden., Visuttijai K; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden., Lööf D; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden., Roos S; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden., Thomsen C; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden., Oldfors A; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

المصدر: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2022 Dec; Vol. 48 (7), pp. e12841. Date of Electronic Publication: 2022 Aug 06.

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

بيانات الدورية: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7609829 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2990 (Electronic) Linking ISSN: 03051846 NLM ISO Abbreviation: Neuropathol Appl Neurobiol Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome-c Oxidase Deficiency*/metabolism , Cytochrome-c Oxidase Deficiency*/pathology , Dermatomyositis*/pathology, Adult ; Humans ; Succinate Dehydrogenase/analysis ; Succinate Dehydrogenase/metabolism ; Electron Transport ; Muscle Fibers, Skeletal/chemistry ; Muscle Fibers, Skeletal/metabolism ; Muscle Fibers, Skeletal/pathology ; DNA, Mitochondrial/genetics ; Electron Transport Complex IV/analysis ; Electron Transport Complex IV/genetics ; Electron Transport Complex IV/metabolism ; Muscle, Skeletal/pathology

المؤلفون: Saini PK; Univ. Grenoble Alpes, CNRS, UMR 5525, VetAgro Sup, Grenoble INP, TIMC, 38000 Grenoble, France., Dawitz H; Department of Biochemistry and Biophysics, Stockholm University, Stockholm 10691, Sweden., Aufschnaiter A; Department of Biochemistry and Biophysics, Stockholm University, Stockholm 10691, Sweden., Bondarev S; Department of Genetics and Biotechnology, St. Petersburg State University, St. Petersburg, Russia., Thomas J; Univ. Grenoble Alpes, CNRS, UMR 5525, VetAgro Sup, Grenoble INP, TIMC, 38000 Grenoble, France., Amblard A; Univ. Grenoble Alpes, CNRS, UMR 5525, VetAgro Sup, Grenoble INP, TIMC, 38000 Grenoble, France., Stewart J; Max Planck Institute for Biology of Ageing, Joseph-Stelzmann-Str. 9b, 50931 Cologne, Germany.; Wellcome Centre for Mitochondrial Research, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, United Kingdom., Thierry-Mieg N; Univ. Grenoble Alpes, CNRS, UMR 5525, VetAgro Sup, Grenoble INP, TIMC, 38000 Grenoble, France., Ott M; Department of Biochemistry and Biophysics, Stockholm University, Stockholm 10691, Sweden.; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg 40530, Sweden., Pierrel F; Univ. Grenoble Alpes, CNRS, UMR 5525, VetAgro Sup, Grenoble INP, TIMC, 38000 Grenoble, France.

المصدر: Molecular biology of the cell [Mol Biol Cell] 2022 Dec 01; Vol. 33 (14), pp. ar130. Date of Electronic Publication: 2022 Sep 21.

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

بيانات الدورية: Publisher: American Society for Cell Biology Country of Publication: United States NLM ID: 9201390 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-4586 (Electronic) Linking ISSN: 10591524 NLM ISO Abbreviation: Mol Biol Cell Subsets: MEDLINE

مواضيع طبية MeSH: Prions*/genetics , Saccharomyces cerevisiae Proteins*/genetics , Saccharomyces cerevisiae Proteins*/metabolism , Cytochrome-c Oxidase Deficiency*, Humans ; Peptide Termination Factors/metabolism ; Heat-Shock Proteins/metabolism ; Saccharomyces cerevisiae/metabolism ; Electron Transport Complex IV/metabolism

المؤلفون: Li L; College of Fisheries, Key Laboratory of Freshwater Animal Breeding, Ministry of Agriculture, Huazhong Agricultural University, Wuhan, China., Chen M; College of Fisheries, Key Laboratory of Freshwater Animal Breeding, Ministry of Agriculture, Huazhong Agricultural University, Wuhan, China., Liu W; College of Fisheries, Key Laboratory of Freshwater Animal Breeding, Ministry of Agriculture, Huazhong Agricultural University, Wuhan, China., Tai P; College of Fisheries, Key Laboratory of Freshwater Animal Breeding, Ministry of Agriculture, Huazhong Agricultural University, Wuhan, China., Liu X; CAS Key Laboratory of Regenerative Biology, Joint School of Life Science, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Science; Guangzhou Medical University, Guangzhou, China., Liu JX; College of Fisheries, Key Laboratory of Freshwater Animal Breeding, Ministry of Agriculture, Huazhong Agricultural University, Wuhan, China.

المصدر: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2022 Nov; Vol. 36 (11), pp. e22596.

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

بيانات الدورية: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome-c Oxidase Deficiency*/metabolism , Zebrafish*/metabolism, Adenosine Triphosphate/metabolism ; Animals ; Carbonyl Cyanide m-Chlorophenyl Hydrazone ; Electron Transport Complex IV/genetics ; Electron Transport Complex IV/metabolism ; Erythropoiesis ; Hypoxia/metabolism ; LIM Domain Proteins/metabolism ; Mitochondria/metabolism ; Transcription Factors/metabolism ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism ; beta Catenin/metabolism

المؤلفون: Roos S; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Hedberg-Oldfors C; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Visuttijai K; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Stein M; Department of Pediatrics, Helsingborg Hospital, Helsingborg, Sweden., Kollberg G; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Elíasdóttir Ó; Department of Neurology, Neuromuscular Center, Sahlgrenska University Hospital, Gothenburg, Sweden., Lindberg C; Department of Neurology, Neuromuscular Center, Sahlgrenska University Hospital, Gothenburg, Sweden., Darin N; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden., Oldfors A; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

المصدر: Brain pathology (Zurich, Switzerland) [Brain Pathol] 2022 Jul; Vol. 32 (4), pp. e13038. Date of Electronic Publication: 2021 Nov 21.

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

بيانات الدورية: Publisher: International Society of Neuropathology Country of Publication: Switzerland NLM ID: 9216781 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1750-3639 (Electronic) Linking ISSN: 10156305 NLM ISO Abbreviation: Brain Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome-c Oxidase Deficiency*/genetics , Cytochrome-c Oxidase Deficiency*/pathology , Mitochondrial Myopathies*/genetics , Mitochondrial Myopathies*/pathology, DNA, Mitochondrial/genetics ; Electron Transport ; Humans ; Muscle, Skeletal/pathology ; Mutation

المؤلفون: Douiev L; Department of Genetics, Hadassah Medical Center, Jerusalem 9112001, Israel., Miller C; Department of Genetics, Hadassah Medical Center, Jerusalem 9112001, Israel., Keller G; Department of Genetics, Hadassah Medical Center, Jerusalem 9112001, Israel., Benyamini H; Info-CORE, Bioinformatics Unit of the I-CORE, Hebrew University of Jerusalem, Jerusalem 9112001, Israel., Abu-Libdeh B; Department of Pediatrics and Genetics, Makassed Hospital and Al-Quds University, East Jerusalem, Palestinian Territories 91220, Israel., Saada A; Department of Genetics, Hadassah Medical Center, Jerusalem 9112001, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112001, Israel.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2022 Apr 08; Vol. 23 (8). Date of Electronic Publication: 2022 Apr 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome-c Oxidase Deficiency* , Mitochondrial Diseases*, Cell Nucleus/genetics ; Cell Nucleus/metabolism ; DNA Damage ; Electron Transport Complex IV/genetics ; Electron Transport Complex IV/metabolism ; Humans