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Wyszukujesz frazę ""Cytochrome c oxidase"" wg kryterium: Temat


Tytuł:
Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant.
Autorzy:
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.
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Źródło:
Brain pathology (Zurich, Switzerland) [Brain Pathol] 2022 Jul; Vol. 32 (4), pp. e13038. Date of Electronic Publication: 2021 Nov 21.
Typ publikacji:
Journal Article
MeSH Terms:
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
Czasopismo naukowe
Tytuł:
Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency.
Autorzy:
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.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Apr 08; Vol. 23 (8). Date of Electronic Publication: 2022 Apr 08.
Typ publikacji:
Journal Article
MeSH Terms:
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
Czasopismo naukowe
Tytuł:
A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review.
Autorzy:
Galvão de Oliveira M; Universidade Federal de São Paulo, Unifesp, Departamento de Genética, São Paulo, SP, CEP 04023-061, Brazil. Electronic address: .
Tengan C; Universidade Federal de São Paulo, Unifesp, Departamento de Neurologia, São Paulo, SP, CEP 04039-000, Brazil. Electronic address: .
Micheletti C; Universidade Federal de São Paulo, Unifesp, Departamento de Pediatria, São Paulo, SP, CEP 04023-060, Brazil. Electronic address: .
Ramos de Macedo P; Universidade Federal de São Paulo, Unifesp, Departamento de Neurologia, São Paulo, SP, CEP 04039-000, Brazil. Electronic address: .
Soares Pinho Cernach MC; Universidade Metropolitana de Santos, UNIMES, Departamento de Genética, Santos, SP, CEP 11045-002, Brazil. Electronic address: .
Cavole TR; Universidade Federal de São Paulo, Unifesp, Departamento de Genética, São Paulo, SP, CEP 04023-061, Brazil. Electronic address: .
de França Basto M; Universidade Federal de São Paulo, Unifesp, Departamento de Genética, São Paulo, SP, CEP 04023-061, Brazil. Electronic address: .
Filho JS; Universidade Federal de São Paulo, Unifesp, Departamento de Genética, São Paulo, SP, CEP 04023-061, Brazil. Electronic address: .
Virmond LA; Universidade Federal de São Paulo, Unifesp, Departamento de Genética, São Paulo, SP, CEP 04023-061, Brazil. Electronic address: .
Milanezi F; GeneOne, Diagnósticos da América (DASA), Brazil. Electronic address: .
Nakano V; GeneOne, Diagnósticos da América (DASA), Brazil. Electronic address: .
Falconi A; GeneOne, Diagnósticos da América (DASA), Brazil. Electronic address: .
Perrone E; Universidade Federal de São Paulo, Unifesp, Departamento de Genética, São Paulo, SP, CEP 04023-061, Brazil. Electronic address: .
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Źródło:
European journal of medical genetics [Eur J Med Genet] 2021 May; Vol. 64 (5), pp. 104195. Date of Electronic Publication: 2021 Mar 18.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Cardiomyopathy, Hypertrophic/*genetics
Cytochrome-c Oxidase Deficiency/*genetics
Electron Transport Complex IV/*genetics
Mitochondrial Encephalomyopathies/*genetics
Cardiomyopathy, Hypertrophic/pathology ; Cytochrome-c Oxidase Deficiency/pathology ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Mitochondrial Encephalomyopathies/pathology ; Mutation ; Phenotype
SCR Disease Name:
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Czasopismo naukowe
Tytuł:
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Autorzy:
Wintjes LTM; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.
Kava M; Department of Neurology, Perth Children's Hospital, Perth, Western Australia, Australia.; School of Pediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia.
van den Brandt FA; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.
van den Brand MAM; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.
Lapina O; Department for Radiology and Nuclear Medicine, Oslo University Hospital, Oslo, Norway.
Bliksrud YT; Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
Kulseth MA; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Amundsen SS; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Selberg TR; Department of Pediatrics, Ostfold Hospital Trust, Kalnes, Norway.
Ybema-Antoine M; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.
Tutakhel OAZ; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.
Greed L; Department of Clinical Biochemistry, PathWest, Perth, Western Australia, Australia.
Thorburn DR; Murdoch Children's Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Tangeraas T; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Balasubramaniam S; Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Rodenburg RJT; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.
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Źródło:
Human mutation [Hum Mutat] 2021 Feb; Vol. 42 (2), pp. 135-141. Date of Electronic Publication: 2020 Nov 30.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Acidosis, Lactic*/genetics
Brain Diseases*
Cardiomyopathies*/genetics
Cytochrome-c Oxidase Deficiency*/genetics
Liver Diseases*
Membrane Proteins/*genetics
Mitochondrial Proteins/*genetics
Humans ; Infant, Newborn ; Mitochondrial Proteins/metabolism
Czasopismo naukowe
Tytuł:
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.
Autorzy:
Piro E; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro'. University Hospital 'P.Giaccone', University of Palermo, Piazza delle Cliniche, 2, 90127, Palermo, Italy. .
Serra G; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro'. University Hospital 'P.Giaccone', University of Palermo, Piazza delle Cliniche, 2, 90127, Palermo, Italy.
Antona V; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro'. University Hospital 'P.Giaccone', University of Palermo, Piazza delle Cliniche, 2, 90127, Palermo, Italy.
Giuffrè M; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro'. University Hospital 'P.Giaccone', University of Palermo, Piazza delle Cliniche, 2, 90127, Palermo, Italy.
Giorgio E; Department of Medical Sciences, University of Torino, Via Santena 19, 10126, Torino, Italy.
Sirchia F; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell' Istria, 65, 34137, Trieste, Italy.
Schierz IAM; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro'. University Hospital 'P.Giaccone', University of Palermo, Piazza delle Cliniche, 2, 90127, Palermo, Italy.
Brusco A; Department of Medical Sciences, University of Torino, Via Santena 19, 10126, Torino, Italy.
Corsello G; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro'. University Hospital 'P.Giaccone', University of Palermo, Piazza delle Cliniche, 2, 90127, Palermo, Italy.
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Źródło:
Italian journal of pediatrics [Ital J Pediatr] 2020 Sep 24; Vol. 46 (1), pp. 140. Date of Electronic Publication: 2020 Sep 24.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Cytochrome-c Oxidase Deficiency/*genetics
Leigh Disease/*genetics
Neoplasm Proteins/*genetics
Comparative Genomic Hybridization ; Cytochrome-c Oxidase Deficiency/diagnosis ; Cytochrome-c Oxidase Deficiency/therapy ; Diagnosis, Differential ; Humans ; Infant, Newborn ; Infant, Premature ; Italy ; Leigh Disease/diagnosis ; Leigh Disease/therapy ; Male ; Mutation ; Phenotype
SCR Disease Name:
Leigh syndrome , French Canadian type
Czasopismo naukowe
Tytuł:
Murine cytomegalovirus infection exacerbates complex IV deficiency in a model of mitochondrial disease.
Autorzy:
Ferreira N; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Centre for Medical Research, The University of Western Australia, Nedlands, Western Australia, Australia.
Andoniou CE; Infection and Immunity Program and Department of Microbiology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.; Centre for Experimental Immunology, Lions Eye Institute, Perth, Western Australia, Australia.
Perks KL; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Centre for Medical Research, The University of Western Australia, Nedlands, Western Australia, Australia.
Ermer JA; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Centre for Medical Research, The University of Western Australia, Nedlands, Western Australia, Australia.
Rudler DL; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Centre for Medical Research, The University of Western Australia, Nedlands, Western Australia, Australia.
Rossetti G; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Centre for Medical Research, The University of Western Australia, Nedlands, Western Australia, Australia.
Periyakaruppiah A; School of Biomedical Sciences, The University of Queensland, St. Lucia, Queensland, Australia.
Wong JKY; School of Biomedical Sciences, The University of Queensland, St. Lucia, Queensland, Australia.
Rackham O; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; School of Pharmacy and Biomedical Sciences, Curtin University, Bentley, Western Australia, Australia.; Curtin Health Innovation Research Institute, Curtin University, Bentley, Western Australia, Australia.; Telethon Kids Institute, QEII Medical Centre, Nedlands, Western Australia, Australia.
Noakes PG; School of Biomedical Sciences, The University of Queensland, St. Lucia, Queensland, Australia.; Queensland Brain Institute, The University of Queensland, St. Lucia, Queensland, Australia.
Degli-Esposti MA; Infection and Immunity Program and Department of Microbiology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.; Centre for Experimental Immunology, Lions Eye Institute, Perth, Western Australia, Australia.
Filipovska A; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Centre for Medical Research, The University of Western Australia, Nedlands, Western Australia, Australia.; Telethon Kids Institute, QEII Medical Centre, Nedlands, Western Australia, Australia.; School of Molecular Sciences, The University of Western Australia, Crawley, Western Australia, Australia.
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Źródło:
PLoS genetics [PLoS Genet] 2020 Mar 04; Vol. 16 (3), pp. e1008604. Date of Electronic Publication: 2020 Mar 04 (Print Publication: 2020).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cytochrome-c Oxidase Deficiency/*genetics
Cytomegalovirus Infections/*genetics
Electron Transport Complex IV/*genetics
Mitochondrial Diseases/*genetics
Mitochondrial Proteins/*genetics
Muromegalovirus/*pathogenicity
Animals ; Cytochrome-c Oxidase Deficiency/virology ; Cytomegalovirus Infections/virology ; Disease Models, Animal ; Leigh Disease/genetics ; Leigh Disease/virology ; Mice ; Mice, Inbred C57BL ; Mitochondrial Diseases/virology ; Mutation/genetics ; TOR Serine-Threonine Kinases/genetics
Czasopismo naukowe
Tytuł:
Mitochondrial complex IV mutation increases reactive oxygen species production and reduces lifespan in aged mice.
Autorzy:
Reichart G; Oscar Langendorff Institute of Physiology, Rostock University Medical Center, Rostock, Germany.
Mayer J; Oscar Langendorff Institute of Physiology, Rostock University Medical Center, Rostock, Germany.
Zehm C; Institute of Medical Biochemistry and Molecular Biology, Rostock University Medical Center, Rostock, Germany.
Kirschstein T; Oscar Langendorff Institute of Physiology, Rostock University Medical Center, Rostock, Germany.
Tokay T; Oscar Langendorff Institute of Physiology, Rostock University Medical Center, Rostock, Germany.; Center for Life Sciences, Nazarbayev University, Astana, Kazakhstan.
Lange F; Oscar Langendorff Institute of Physiology, Rostock University Medical Center, Rostock, Germany.
Baltrusch S; Institute of Medical Biochemistry and Molecular Biology, Rostock University Medical Center, Rostock, Germany.
Tiedge M; Institute of Medical Biochemistry and Molecular Biology, Rostock University Medical Center, Rostock, Germany.
Fuellen G; Institute for Biostatistics and Informatics in Medicine and Ageing Research, Rostock, Germany.; Interdisciplinary Faculty, University of Rostock, Rostock, Germany.
Ibrahim S; Department of Dermatology, Lübeck University Medical Center, Lübeck, Germany.
Köhling R; Oscar Langendorff Institute of Physiology, Rostock University Medical Center, Rostock, Germany.; Interdisciplinary Faculty, University of Rostock, Rostock, Germany.
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Źródło:
Acta physiologica (Oxford, England) [Acta Physiol (Oxf)] 2019 Apr; Vol. 225 (4), pp. e13214. Date of Electronic Publication: 2018 Nov 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cytochrome-c Oxidase Deficiency/*metabolism
Electron Transport Complex IV/*genetics
Longevity/*genetics
Reactive Oxygen Species/*metabolism
Animals ; Brain/metabolism ; Cytochrome-c Oxidase Deficiency/genetics ; Glial Fibrillary Acidic Protein/metabolism ; In Vitro Techniques ; Memory/physiology ; Mice, Inbred C57BL ; Mitochondrial Dynamics/genetics ; Superoxide Dismutase/genetics ; Superoxide Dismutase/metabolism ; Superoxides/metabolism
Czasopismo naukowe
Tytuł:
Ophthalmic manifestations in patients with Leigh syndrome, French Canadian type.
Autorzy:
Pesenti F; a Department of Ophthalmology , Centre Hospitalier Universitaire de Sherbrooke , Sherbrooke , Quebec , Canada.
Doucet E; b Department of Ophthalmology , Moncton Hospital , Moncton , New Brunswick , Canada.
Morin C; c Department of Paediatrics , Hôpital de Chicoutimi , Chicoutimi , Quebec , Canada.
Falcao M; a Department of Ophthalmology , Centre Hospitalier Universitaire de Sherbrooke , Sherbrooke , Quebec , Canada.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2018 Dec; Vol. 39 (6), pp. 725-727. Date of Electronic Publication: 2018 Nov 14.
Typ publikacji:
Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Cytochrome-c Oxidase Deficiency/*complications
Eye Diseases/*etiology
Leigh Disease/*complications
Adult ; Amblyopia/diagnosis ; Amblyopia/etiology ; Amblyopia/genetics ; Child ; Child, Preschool ; Chromosomes, Human, Pair 2 ; Cytochrome-c Oxidase Deficiency/diagnosis ; Cytochrome-c Oxidase Deficiency/genetics ; Eye Diseases/diagnosis ; Eye Diseases/genetics ; Female ; Humans ; Hyperopia/diagnosis ; Hyperopia/etiology ; Hyperopia/genetics ; Infant ; Leigh Disease/diagnosis ; Leigh Disease/genetics ; Male ; Neoplasm Proteins/genetics ; Ocular Motility Disorders/diagnosis ; Ocular Motility Disorders/etiology ; Ocular Motility Disorders/genetics ; Strabismus/diagnosis ; Strabismus/etiology ; Strabismus/genetics ; Vision, Low/diagnosis ; Vision, Low/etiology ; Vision, Low/genetics ; Visual Acuity/physiology
SCR Disease Name:
Leigh syndrome , French Canadian type
Czasopismo naukowe
Tytuł:
Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing.
Autorzy:
Hedberg-Oldfors C; Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.
Lindgren U; Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.; Neuromuscular Centre, Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.
Basu S; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.
Visuttijai K; Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.
Lindberg C; Neuromuscular Centre, Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.
Falkenberg M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.
Larsson Lekholm E; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.
Oldfors A; Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.
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Źródło:
Brain pathology (Zurich, Switzerland) [Brain Pathol] 2021 May; Vol. 31 (3), pp. e12931.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA, Mitochondrial/*genetics
Muscle Fibers, Skeletal/*pathology
Myositis, Inclusion Body/*genetics
Myositis, Inclusion Body/*pathology
Aged ; Cytochrome-c Oxidase Deficiency/genetics ; Cytochrome-c Oxidase Deficiency/metabolism ; Cytochrome-c Oxidase Deficiency/pathology ; Female ; Gene Rearrangement/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Mitochondria/metabolism ; Muscle Fibers, Skeletal/metabolism ; Myositis, Inclusion Body/metabolism
Czasopismo naukowe
Tytuł:
Cytochrome c oxidase deficiency.
Autorzy:
Brischigliaro M; Department of Biology, University of Padova, Padova, Italy.
Zeviani M; Department of Neurosciences, University of Padova, Padova, Italy. Electronic address: .
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Źródło:
Biochimica et biophysica acta. Bioenergetics [Biochim Biophys Acta Bioenerg] 2021 Jan 01; Vol. 1862 (1), pp. 148335. Date of Electronic Publication: 2020 Nov 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Cytochrome-c Oxidase Deficiency/*enzymology
Cytochrome-c Oxidase Deficiency/*genetics
Electron Transport Complex IV/*genetics
Electron Transport Complex IV/*metabolism
Animals ; Disease Models, Animal ; Humans ; Mice
Czasopismo naukowe
Tytuł:
Multilevel heterogeneity of mitochondrial respiratory chain deficiency.
Autorzy:
Vincent AE; Wellcome Centre for Mitochondrial Research and Centre for Ageing and Vitality, Newcastle University, Newcastle upon Tyne, UK.
Picard M; Department of Psychiatry, Division of Behavioral Medicine, Columbia University Medical Center, New York, New York, USA.; Department of Neurology and Columbia Translational Neuroscience Initiative, H. Houston Merritt Center, Columbia University Medical Center, New York, New York, USA.; Columbia University Aging Center, Columbia University, New York, New York, USA.
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Źródło:
The Journal of pathology [J Pathol] 2018 Nov; Vol. 246 (3), pp. 261-265. Date of Electronic Publication: 2018 Sep 25.
Typ publikacji:
Journal Article; Comment
MeSH Terms:
Cytochrome-c Oxidase Deficiency*
Mitochondrial Diseases/*genetics
DNA, Mitochondrial/genetics ; Electron Transport Complex IV/genetics ; Humans ; Muscle, Skeletal ; United Kingdom
Czasopismo naukowe
Tytuł:
A novel histochemistry assay to assess and quantify focal cytochrome c oxidase deficiency.
Autorzy:
Simard ML; Max Planck Institute for Biology of Ageing, Cologne, Germany.
Mourier A; Max Planck Institute for Biology of Ageing, Cologne, Germany.; CNRS, Université de Bordeaux, Institut de Biochimie et Génétique Cellulaires, UMR5095, Bordeaux, France.
Greaves LC; Newcastle University LLHW Centre for Ageing and Vitality, Newcastle University, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Stewart JB; Max Planck Institute for Biology of Ageing, Cologne, Germany.
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Źródło:
The Journal of pathology [J Pathol] 2018 Jul; Vol. 245 (3), pp. 311-323. Date of Electronic Publication: 2018 May 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cytochrome-c Oxidase Deficiency/*diagnosis
Electron Transport Complex IV/*metabolism
Single-Cell Analysis/*methods
Staining and Labeling/*methods
Animals ; Cytochrome-c Oxidase Deficiency/enzymology ; Cytochrome-c Oxidase Deficiency/genetics ; Disease Models, Animal ; Drosophila Proteins/metabolism ; Drosophila melanogaster ; Energy Metabolism ; Humans ; Membrane Proteins/deficiency ; Membrane Proteins/genetics ; Methylphenazonium Methosulfate/chemistry ; Mice, Inbred C57BL ; Mice, Knockout ; Mitochondrial Proteins/deficiency ; Mitochondrial Proteins/genetics ; Mutation ; Neoplasm Proteins/deficiency ; Neoplasm Proteins/genetics ; Nitroblue Tetrazolium/chemistry ; Oxidation-Reduction ; Predictive Value of Tests ; RNA, Transfer, Ala/genetics
Czasopismo naukowe
Tytuł:
Low Cytochrome Oxidase 1 Links Mitochondrial Dysfunction to Atherosclerosis in Mice and Pigs.
Autorzy:
Holvoet P; Department of Cardiovascular Sciences, Atherosclerosis and Metabolism Unit, KU Leuven, Belgium.
Vanhaverbeke M; Department of Clinical Cardiology, Leuven, Belgium.
Geeraert B; Department of Cardiovascular Sciences, Atherosclerosis and Metabolism Unit, KU Leuven, Belgium.
De Keyzer D; Department of Cardiovascular Sciences, Atherosclerosis and Metabolism Unit, KU Leuven, Belgium.
Hulsmans M; Department of Cardiovascular Sciences, Atherosclerosis and Metabolism Unit, KU Leuven, Belgium.
Janssens S; Department of Clinical Cardiology, Leuven, Belgium.
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Źródło:
PloS one [PLoS One] 2017 Jan 25; Vol. 12 (1), pp. e0170307. Date of Electronic Publication: 2017 Jan 25 (Print Publication: 2017).
Typ publikacji:
Journal Article
MeSH Terms:
Atherosclerosis/*etiology
Cytochrome-c Oxidase Deficiency/*complications
Cytochrome-c Oxidase Deficiency/*physiopathology
Electron Transport Complex IV/*physiology
Mitochondria/*metabolism
Swine, Miniature/*metabolism
Animals ; Aorta, Thoracic/metabolism ; Aorta, Thoracic/pathology ; Atherosclerosis/enzymology ; Atherosclerosis/genetics ; Caloric Restriction ; Coronary Vessels/metabolism ; Coronary Vessels/pathology ; Cytochrome-c Oxidase Deficiency/pathology ; Diabetes Mellitus, Experimental/genetics ; Diabetes Mellitus, Experimental/metabolism ; Electron Transport Complex IV/genetics ; Energy Metabolism ; Hypercholesterolemia/enzymology ; Hypercholesterolemia/pathology ; Insulin Resistance ; Leptin/deficiency ; Leptin/genetics ; Lipoproteins, LDL/metabolism ; Macrophages/pathology ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mice, Obese ; Nuclear Receptor Coactivators/biosynthesis ; Nuclear Receptor Coactivators/genetics ; Oxidative Stress ; Peroxisome Proliferator-Activated Receptors/biosynthesis ; Peroxisome Proliferator-Activated Receptors/genetics ; Plaque, Atherosclerotic/pathology ; Receptors, LDL/deficiency ; Receptors, LDL/genetics ; Receptors, Leptin/deficiency ; Receptors, Leptin/genetics ; Swine
Czasopismo naukowe
Tytuł:
Hypoxia Promotes Mitochondrial Complex I Abundance via HIF-1α in Complex III and Complex IV Eficient Cells.
Autorzy:
Saldana-Caboverde A; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Nissanka N; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Garcia S; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Lombès A; Institut Cochin, Unité U1016, INSERM, UMR 8104, CNRS, Université Paris 5, F-75014 Paris, France.
Diaz F; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
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Źródło:
Cells [Cells] 2020 Sep 29; Vol. 9 (10). Date of Electronic Publication: 2020 Sep 29.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Electron Transport Complex I/*metabolism
Electron Transport Complex III/*metabolism
Electron Transport Complex IV/*metabolism
Fibroblasts/*metabolism
Hypoxia-Inducible Factor 1, alpha Subunit/*metabolism
Mitochondria/*metabolism
Alkyl and Aryl Transferases/genetics ; Alkyl and Aryl Transferases/metabolism ; Animals ; Cell Hypoxia/genetics ; Cell Line ; Cytochrome-c Oxidase Deficiency/metabolism ; Doxycycline/pharmacology ; Electron Transport Complex III/deficiency ; Electron Transport Complex III/genetics ; Electron Transport Complex IV/genetics ; Gene Knockout Techniques ; Gene Silencing ; Humans ; Hypoxia-Inducible Factor 1, alpha Subunit/genetics ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Mice ; RNA, Small Interfering ; Reactive Oxygen Species/metabolism
Czasopismo naukowe
Tytuł:
MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme.
Autorzy:
Li Y; Koch Institute for Integrative Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA.
Ivica NA; Koch Institute for Integrative Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA.
Dong T; Koch Institute for Integrative Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA.
Papageorgiou DP; Department of Materials Science and Engineering, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA.
He Y; Koch Institute for Integrative Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA.; Department of Chemical Engineering, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA.
Brown DR; Koch Institute for Integrative Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA.
Kleyman M; Koch Institute for Integrative Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA.
Hu G; Koch Institute for Integrative Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA.
Chen WW; Whitehead Institute for Biomedical Research, Cambridge, MA, 02142, USA.; Boston Combined Residency Program, Department of Pediatrics, Boston Children's Hospital, Boston, MA, 02115, USA.
Sullivan LB; Koch Institute for Integrative Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA.
Del Rosario A; Koch Institute for Integrative Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA.
Hammond PT; Koch Institute for Integrative Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA.
Vander Heiden MG; Koch Institute for Integrative Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA.; Dana-Farber Cancer Institute, Boston, MA, 02115, USA.
Chen J; Koch Institute for Integrative Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02139, USA. .
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Źródło:
Nature communications [Nat Commun] 2020 Sep 24; Vol. 11 (1), pp. 4837. Date of Electronic Publication: 2020 Sep 24.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Adenosine Triphosphate/*metabolism
Heme/*metabolism
Membrane Transport Proteins/*metabolism
Mitochondria/*metabolism
Receptors, Virus/*metabolism
Thermogenesis/*physiology
Animals ; Cytochrome-c Oxidase Deficiency ; Electron Transport Complex III ; Electron Transport Complex IV ; Energy Metabolism/physiology ; Gene Knockout Techniques ; HEK293 Cells ; Humans ; Membrane Transport Proteins/genetics ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mitochondrial Membranes/metabolism ; Protein Domains ; Receptors, Virus/genetics ; Sarcoplasmic Reticulum Calcium-Transporting ATPases/metabolism ; Signal Transduction ; THP-1 Cells
Czasopismo naukowe
Tytuł:
Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.
Autorzy:
Ribeiro C; CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal.
do Carmo Macário M; CHUC - Coimbra University Hospitals, Portugal.
Viegas AT; CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal.
Pratas J; CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal.
Santos MJ; CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal.
Simões M; CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal.
Mendes C; CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal.
Bacalhau M; CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal.
Garcia P; Metabolic Unit, Centre for Child Development, Pediatric Hospital of Coimbra - CHUC, Portugal.
Diogo L; Faculty of Medicine, University of Coimbra, Portugal; Metabolic Unit, Centre for Child Development, Pediatric Hospital of Coimbra - CHUC, Portugal.
Grazina M; CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal. Electronic address: .
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Źródło:
Mitochondrion [Mitochondrion] 2016 Nov; Vol. 31, pp. 84-88. Date of Electronic Publication: 2016 Oct 15.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Cytochrome-c Oxidase Deficiency*
Leigh Disease/*diagnosis
Leigh Disease/*pathology
Membrane Proteins/*deficiency
Mitochondrial Proteins/*deficiency
Adult ; Child ; Genes ; Humans ; Male ; Sequence Deletion
Czasopismo naukowe
Tytuł:
Metabolic flexibility of mitochondrial respiratory chain disorders predicted by computer modelling.
Autorzy:
Zieliński ŁP; MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Hills Road, Cambridge, CB2 0XY, UK; University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Hills Road, Cambridge, CB2 0SP, UK.
Smith AC; MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Hills Road, Cambridge, CB2 0XY, UK.
Smith AG; MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Hills Road, Cambridge, CB2 0XY, UK.
Robinson AJ; MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Hills Road, Cambridge, CB2 0XY, UK. Electronic address: .
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Źródło:
Mitochondrion [Mitochondrion] 2016 Nov; Vol. 31, pp. 45-55. Date of Electronic Publication: 2016 Sep 30.
Typ publikacji:
Journal Article
MeSH Terms:
Cytochrome-c Oxidase Deficiency*
Adenosine Triphosphate/*metabolism
Electron Transport Complex I/*deficiency
Electron Transport Complex II/*deficiency
Electron Transport Complex III/*deficiency
Mitochondria/*metabolism
Myocytes, Cardiac/*metabolism
Computer Simulation ; Humans
Czasopismo naukowe
Tytuł:
Mitochondrial disease disrupts hepatic allostasis and lowers the threshold for immune-mediated liver toxicity.
Autorzy:
Jestin M; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Kapnick SM; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Tarasenko TN; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Burke CT; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Zerfas PM; Office of Research Services, National Institutes of Health, Bethesda, MD, 20892, USA.
Diaz F; University of Miami, Department of Neurology, Miller School of Medicine, Miami, FL, 33136, USA.
Vernon H; Kennedy Krieger Institute, Johns Hopkins Medical Center, Baltimore, MD, 21205, USA.
Singh LN; Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Sokol RJ; Section of Pediatric Gastroenterology, Hepatology and Nutrition, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO 80045, USA.
McGuire PJ; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. Electronic address: .
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Źródło:
Molecular metabolism [Mol Metab] 2020 Jul; Vol. 37, pp. 100981. Date of Electronic Publication: 2020 Mar 26.
Typ publikacji:
Journal Article; Research Support, N.I.H., Intramural
MeSH Terms:
Cytochrome-c Oxidase Deficiency/*physiopathology
Liver/*metabolism
Mitochondrial Diseases/*physiopathology
Allostasis/physiology ; Animals ; Disease Models, Animal ; Fatty Liver/metabolism ; Female ; Hepatitis/metabolism ; Hepatitis/pathology ; Hepatocytes/metabolism ; Kupffer Cells/metabolism ; Liver Diseases/metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Mitochondrial Diseases/metabolism ; Orthomyxoviridae Infections
Czasopismo naukowe
Tytuł:
Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency.
Autorzy:
Kushnareva Y; Immune Regulation, La Jolla Institute for Allergy and Immunology, 9420 Athena Circle, La Jolla, CA 92037, USA.
Seong Y; Immune Regulation, La Jolla Institute for Allergy and Immunology, 9420 Athena Circle, La Jolla, CA 92037, USA.
Andreyev AY; Department of Pharmacology, University of California San Diego, La Jolla, CA 92093, USA.
Kuwana T; Immune Regulation, La Jolla Institute for Allergy and Immunology, 9420 Athena Circle, La Jolla, CA 92037, USA.
Kiosses WB; Immune Regulation, La Jolla Institute for Allergy and Immunology, 9420 Athena Circle, La Jolla, CA 92037, USA.
Votruba M; School of Optometry and Vision Sciences, Cardiff University, Cardiff CF24 4LU, UK.; Cardiff Eye Unit, University Hospital Wales, Cardiff CF14 4XW, UK.
Newmeyer DD; Immune Regulation, La Jolla Institute for Allergy and Immunology, 9420 Athena Circle, La Jolla, CA 92037, USA.
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Źródło:
Cell death & disease [Cell Death Dis] 2016 Jul 28; Vol. 7, pp. e2309. Date of Electronic Publication: 2016 Jul 28.
Typ publikacji:
Journal Article
MeSH Terms:
Haploinsufficiency*
Cytochrome-c Oxidase Deficiency/*genetics
Electron Transport Complex IV/*genetics
GTP Phosphohydrolases/*genetics
Mitochondria/*genetics
Optic Atrophy, Autosomal Dominant/*genetics
Alleles ; Animals ; Cytochrome-c Oxidase Deficiency/metabolism ; Cytochrome-c Oxidase Deficiency/pathology ; Disease Models, Animal ; Electron Transport Complex IV/metabolism ; Embryo, Mammalian ; Endoplasmic Reticulum Stress/genetics ; Fibroblasts/metabolism ; Fibroblasts/pathology ; GTP Phosphohydrolases/deficiency ; Gene Expression Regulation ; HeLa Cells ; Heterozygote ; Humans ; Mice ; Mitochondria/metabolism ; Mitochondria/pathology ; Mutation ; Optic Atrophy, Autosomal Dominant/metabolism ; Optic Atrophy, Autosomal Dominant/pathology ; Primary Cell Culture ; bcl-2-Associated X Protein/genetics ; bcl-2-Associated X Protein/metabolism
Czasopismo naukowe
Tytuł:
Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate.
Autorzy:
Hashimura Y; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.; Department of Pediatrics, Takatsuki General Hospital, Takatsuki, Japan.
Morioka I; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Hisamatsu C; Division of Pediatric Surgery, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.
Yokoyama N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.; Department of Pediatrics, Akashi Medical Center, Akashi, Japan.
Taniguchi-Ikeda M; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Yokozaki H; Department of Pathology, Kobe University Graduate School of Medicine, Kobe, Japan.
Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
Ohtake A; Department of Pediatrics, Saitama Medical University, Saitama, Japan.
Itoh K; Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Takeshima Y; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.; Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan.
Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
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Źródło:
Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2016 Jul; Vol. 58 (7), pp. 651-5. Date of Electronic Publication: 2016 Jun 06.
Typ publikacji:
Case Reports
MeSH Terms:
Duodenum*
Cytochrome-c Oxidase Deficiency/*complications
Intestinal Pseudo-Obstruction/*etiology
Mitochondrial Diseases/*complications
Chronic Disease ; Cytochrome-c Oxidase Deficiency/blood ; Cytochrome-c Oxidase Deficiency/diagnosis ; Diagnosis, Differential ; Female ; Humans ; Infant, Newborn ; Intestinal Pseudo-Obstruction/diagnosis ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/metabolism ; Radiography, Abdominal ; Ultrasonography
Raport

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