Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Caruana NJ"'
Autor:
Reisman EG; Institute for Health and Sport (IHES), Victoria University, Melbourne, VIC, Australia.; Mary MacKillop Institute for Health Research, Australian Catholic University, Melbourne, VIC, Australia., Botella J; Institute for Health and Sport (IHES), Victoria University, Melbourne, VIC, Australia.; Metabolic Research Unit, School of Medicine and Institute for Mental and Physical Health and Clinical Translation (IMPACT), Deakin University, Waurn Ponds, VIC, Australia., Huang C; Monash Proteomics & Metabolomics Facility, Biomedicine Discovery Institute and Department of Biochemistry and Molecular Biology, Monash University, Clayton, VIC, Australia., Schittenhelm RB; Monash Proteomics & Metabolomics Facility, Biomedicine Discovery Institute and Department of Biochemistry and Molecular Biology, Monash University, Clayton, VIC, Australia., Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia., Granata C; Institute for Health and Sport (IHES), Victoria University, Melbourne, VIC, Australia.; Department of Diabetes, Central Clinical School, Monash University, Melbourne, VIC, Australia.; Institute for Clinical Diabetology, German, Diabetes Center, Leibniz Center for Diabetes Research at Heinrich-Heine-University, Düsseldorf, Düsseldorf, Germany.; German Center for Diabetes Research, Partner Düsseldorf, München-Neuherberg, Germany., Chandrasiri OS; Institute for Health and Sport (IHES), Victoria University, Melbourne, VIC, Australia., Ramm G; Ramaciotti Centre for Cryo EM, Biomedicine Discovery Institute and Department of Biochemistry and Molecular Biology, Monash University, Clayton, VIC, Australia., Oorschot V; Ramaciotti Centre for Cryo EM, Biomedicine Discovery Institute and Department of Biochemistry and Molecular Biology, Monash University, Clayton, VIC, Australia.; Electron Microscopy Core Facility, European Molecular Biology Laboratory, Heidelberg, Germany., Caruana NJ; Institute for Health and Sport (IHES), Victoria University, Melbourne, VIC, Australia. nikeisha.caruana@unimelb.edu.au.; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia. nikeisha.caruana@unimelb.edu.au., Bishop DJ; Institute for Health and Sport (IHES), Victoria University, Melbourne, VIC, Australia. David.Bishop@vu.edu.au.
Publikováno v:
Nature communications [Nat Commun] 2024 Sep 03; Vol. 15 (1), pp. 7677. Date of Electronic Publication: 2024 Sep 03.
Autor:
Van Hove JLK; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA. Electronic address: Johan.Vanhove@childrenscolorado.org., Friederich MW; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3052, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Victoria 3052, Australia., Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3052, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Victoria 3052, Australia., Caruana NJ; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3052, Australia., Christians U; iC42 Clinical Research and Development, Department of Anesthesiology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Schniedewind B; iC42 Clinical Research and Development, Department of Anesthesiology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Michel CR; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Reisdorph R; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Lopez Gonzalez EDJ; Department of Diabetes and Cancer Metabolism, Beckman Research Institute, City of Hope, Duarte, CA 91010, USA., Brenner C; Department of Diabetes and Cancer Metabolism, Beckman Research Institute, City of Hope, Duarte, CA 91010, USA., Donovan TE; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Lee JC; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA., Chatfield KC; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA; Department of Pediatrics, Section of Cardiology, University of Colorado, Aurora, CO, USA., Larson AA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA., Baker PR 2nd; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA., McCandless SE; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA., Moore Burk MF; Department of Physical Medicine and Rehabilitation, Children's Hospital Colorado, 13121 East 16(th) Avenue, Aurora, CO, USA.
Publikováno v:
Mitochondrion [Mitochondrion] 2024 Sep; Vol. 78, pp. 101905. Date of Electronic Publication: 2024 May 24.
Autor:
Reisman EG; Institute for Health and Sport (IHES), Victoria University, Melbourne, Australia.; Mary MacKillop Institute for Health Research, Australian Catholic University, Melbourne, Australia., Caruana NJ; Institute for Health and Sport (IHES), Victoria University, Melbourne, Australia.; Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Australia., Bishop DJ; Institute for Health and Sport (IHES), Victoria University, Melbourne, Australia.
Publikováno v:
Critical reviews in biochemistry and molecular biology [Crit Rev Biochem Mol Biol] 2024 Jun-Aug; Vol. 59 (3-4), pp. 221-243. Date of Electronic Publication: 2024 Sep 17.
Autor:
Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA., Huang SJ; Department of Medical Genetics, Marshfield Clinic, Marshfield, WI 54449, USA., Khan A; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA., Golden-Grant K; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Boyd B; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA., Rosenthal EA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Gillentine MA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA., Fleming LR; Department of Genetics, Saint Luke's Genetics and Metabolic Clinic, Boise, ID 83712, USA., Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA., Wolfe L; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA., Allworth A; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Bamshad MJ; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Caruana NJ; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia., Chanprasert S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Chen J; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA., Dargie N; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Doherty D; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Friederich MW; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Hisama FM; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Horike-Pyne M; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Lee JC; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA., Donovan TE; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia., Leppig KA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Miller DE; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA., Mirzaa G; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA., Ranchalis J; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Raskind WH; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Michel CR; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Reisdorph R; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Schwarze U; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA., Sheppeard S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Strohbehn S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia., Sybert VP; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Wener MH; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.; Department of Rheumatology, University of Washington, Seattle, WA 98195, USA., Stergachis AB; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Lam CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Jarvik GP; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Dipple KM; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Van Hove JLK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Glass IA; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Publikováno v:
Rare (Amsterdam, Netherlands) [Rare] 2024; Vol. 2. Date of Electronic Publication: 2024 Aug 14.
Autor:
Lee MJ; Institute for Health and Sport, Victoria University, Melbourne, Victoria, Australia., Caruana NJ; Institute for Health and Sport, Victoria University, Melbourne, Victoria, Australia.; Department of Biochemistry and Pharmacology and Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia., Saner NJ; Institute for Health and Sport, Victoria University, Melbourne, Victoria, Australia., Kuang J; Institute for Health and Sport, Victoria University, Melbourne, Victoria, Australia., Stokes T; Department of Kinesiology, McMaster University, Hamilton, Ontario, Canada., McLeod JC; Department of Kinesiology, McMaster University, Hamilton, Ontario, Canada., Oikawa SY; Department of Kinesiology, McMaster University, Hamilton, Ontario, Canada., Bishop DJ; Institute for Health and Sport, Victoria University, Melbourne, Victoria, Australia., Bartlett JD; Institute for Health and Sport, Victoria University, Melbourne, Victoria, Australia., Phillips SM; Department of Kinesiology, McMaster University, Hamilton, Ontario, Canada.
Publikováno v:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2024 Jan; Vol. 38 (1), pp. e23392.
Autor:
Healy MD; Centre for Cell Biology of Chronic Disease, Institute for Molecular Bioscience, The University of Queensland, St. Lucia, QLD 4072, Australia., McNally KE; School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK; MRC Laboratory of Molecular Biology, CB2 0QH Cambridge, UK. Electronic address: kmcnally@mrc-lmb.cam.ac.uk., Butkovič R; School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK., Chilton M; School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK., Kato K; School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK., Sacharz J; Department of Biochemistry and Pharmacology, The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia., McConville C; Department of Biochemistry and Pharmacology, The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia., Moody ERR; School of Biological Sciences, University of Bristol, BS8 1TD Bristol, UK., Shaw S; School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK., Planelles-Herrero VJ; MRC Laboratory of Molecular Biology, CB2 0QH Cambridge, UK., Yadav SKN; School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK., Ross J; School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK., Borucu U; School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK., Palmer CS; Department of Biochemistry and Pharmacology, The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia., Chen KE; Centre for Cell Biology of Chronic Disease, Institute for Molecular Bioscience, The University of Queensland, St. Lucia, QLD 4072, Australia., Croll TI; Cambridge Institute for Medical Research, University of Cambridge, CB2 0XY Cambridge, UK., Hall RJ; Centre for Cell Biology of Chronic Disease, Institute for Molecular Bioscience, The University of Queensland, St. Lucia, QLD 4072, Australia., Caruana NJ; Department of Biochemistry and Pharmacology, The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia; Institute of Health and Sport (iHeS), Victoria University, Melbourne, VIC Australia., Ghai R; Centre for Cell Biology of Chronic Disease, Institute for Molecular Bioscience, The University of Queensland, St. Lucia, QLD 4072, Australia., Nguyen THD; MRC Laboratory of Molecular Biology, CB2 0QH Cambridge, UK., Heesom KJ; Proteomics Facility, School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK., Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, Japan., Berger I; School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK; Max Planck Bristol Centre for Minimal Biology, Department of Chemistry, University of Bristol, BS8 1TS Bristol, UK., Schaffitzel C; School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK., Williams TA; School of Biological Sciences, University of Bristol, BS8 1TD Bristol, UK., Stroud DA; Department of Biochemistry and Pharmacology, The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC Australia., Derivery E; MRC Laboratory of Molecular Biology, CB2 0QH Cambridge, UK., Collins BM; Centre for Cell Biology of Chronic Disease, Institute for Molecular Bioscience, The University of Queensland, St. Lucia, QLD 4072, Australia. Electronic address: b.collins@imb.uq.edu.au., Cullen PJ; School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK. Electronic address: pete.cullen@bristol.ac.uk.
Publikováno v:
Cell [Cell] 2023 May 11; Vol. 186 (10), pp. 2219-2237.e29.
Autor:
Van Haute L; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 0XY, UK., O'Connor E; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada., Díaz-Maldonado H; Department of Biochemistry and Cell Biology, University of Gothenburg, SE-405 30, Gothenburg, Sweden., Munro B; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK., Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada.; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India., Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, 30 Flemington Road, Parkville, VIC, 3052, Australia., Arunachal G; Department of Human genetics, National Institute of Mental Health and Neurosciences, Bengaluru, India., Athanasiou-Fragkouli A; UCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK., Bardhan M; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India., Barth M; Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers, Angers, France., Bonneau D; Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers, Angers, France., Brunetti-Pierri N; Department of Translational Medicine, University of Naples Federico II, Via s. Pansini, 5, 80131, Naples, Italy., Cappuccio G; Department of Translational Medicine, University of Naples Federico II, Via s. Pansini, 5, 80131, Naples, Italy., Caruana NJ; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, 30 Flemington Road, Parkville, VIC, 3052, Australia.; Institute for Health and Sport (IHES), Victoria University, Melbourne, VIC, 3011, Australia., Dominik N; UCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK., Goel H; Hunter Genetics, Waratah, University of Newcastle, Callaghan, NSW, 2298, Australia., Helman G; Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia., Houlden H; UCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK., Lenaers G; Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers, Angers, France., Mention K; Pediatric Inherited Metabolic Disorders, Hôpital Jeanne de Flandre, Lille, France., Murphy D; UCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK., Nandeesh B; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.; Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, India., Olimpio C; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK., Powell CA; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 0XY, UK., Preethish-Kumar V; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India., Procaccio V; Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers, Angers, France., Rius R; Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3010, Australia., Rebelo-Guiomar P; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 0XY, UK., Simons C; Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia., Vengalil S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311, Egypt., Ziegler A; Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers, Angers, France., Thorburn DR; Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3010, Australia., Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, 30 Flemington Road, Parkville, VIC, 3052, Australia.; Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia., Maroofian R; UCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK., Christodoulou J; Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3010, Australia., Gustafsson C; Department of Biochemistry and Cell Biology, University of Gothenburg, SE-405 30, Gothenburg, Sweden., Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada., Minczuk M; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 0XY, UK. michal.minczuk@mrc-mbu.cam.ac.uk., Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK. rh732@medschl.cam.ac.uk.
Publikováno v:
Nature communications [Nat Commun] 2023 Feb 23; Vol. 14 (1), pp. 1009. Date of Electronic Publication: 2023 Feb 23.
Autor:
Tucker EJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia., Baker MJ; Department of Biochemistry and Pharmacology, The University of Melbourne, Parkville, VIC 3010, Australia.; Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC 3010, Australia., Hock DH; Department of Biochemistry and Pharmacology, The University of Melbourne, Parkville, VIC 3010, Australia.; Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC 3010, Australia., Warren JT; Division of Hematology-Oncology, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA., Jaillard S; Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de recherche en santé, environnement et travail)-UMR_S 1085, F-35000 Rennes, France.; CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033 Rennes, France., Bell KM; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Sreenivasan R; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia., Bakhshalizadeh S; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia., Hanna CA; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Department of Gynaecology, The Royal Children's Hospital, Melbourne, VIC 3052, Australia., Caruana NJ; Department of Biochemistry and Pharmacology, The University of Melbourne, Parkville, VIC 3010, Australia.; Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC 3010, Australia.; Institute for Health and Sport (IHES), Victoria University, Melbourne, VIC, 3011, Australia., Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg 5020, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen 6524, The Netherlands., Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, and Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK., Donadieu J; Sorbonne Université, Service d'Hémato-oncologie Pédiatrique, Assistance Publique-Hopitaux de Paris (AP-HP), Hôpital Trousseau, Paris 75006, France.; Registre Français des Neutropénies Congénitales, Hôpital Trousseau, Paris 75006, France.; Centre de Référence des Neutropénies Chroniques, AP-HP, Hôpital Trousseau, Paris 75006, France., Alimi A; Sorbonne Université, Service d'Hémato-oncologie Pédiatrique, Assistance Publique-Hopitaux de Paris (AP-HP), Hôpital Trousseau, Paris 75006, France.; Registre Français des Neutropénies Congénitales, Hôpital Trousseau, Paris 75006, France.; Centre de Référence des Neutropénies Chroniques, AP-HP, Hôpital Trousseau, Paris 75006, France., Launay V; Hematologie, Centre Hospitalier de St Brieuc, Paris 22027, France., Coppo P; Sorbonne Université, Service d'hématologie Hôpital Saint-Antoine, AP-HP, Paris 75006, France., Christin-Maitre S; Sorbonne Université, Service d'Endocrinologie, diabétologie et médecine de la reproduction Hôpital Saint-Antoine, AP-HP, Paris 75006, France., Robevska G; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., van den Bergen J; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Kline BL; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Ayers KL; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia., Stewart PN; Department of Paediatrics, The Royal Hobart Hospital, Tasmania 7000, Australia., Stroud DA; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Biochemistry and Pharmacology, The University of Melbourne, Parkville, VIC 3010, Australia.; Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC 3010, Australia., Stojanovski D; Department of Biochemistry and Pharmacology, The University of Melbourne, Parkville, VIC 3010, Australia.; Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC 3010, Australia., Sinclair AH; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2022 Nov 25; Vol. 107 (12), pp. 3328-3340.
Autor:
Lin W; College of Exercise and Health, Guangzhou Sport University, Guangzhou, China., Saner NJ; Institute for Health and Sport, Victoria University, Melbourne, VIC, Australia.; Human Integrative Physiology, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia., Weng X; College of Exercise and Health, Guangzhou Sport University, Guangzhou, China., Caruana NJ; Institute for Health and Sport, Victoria University, Melbourne, VIC, Australia.; Department of Biochemistry and Pharmacology and Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia., Botella J; Department of Biochemistry and Pharmacology and Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia., Kuang J; Institute for Health and Sport, Victoria University, Melbourne, VIC, Australia., Lee MJ; Institute for Health and Sport, Victoria University, Melbourne, VIC, Australia., Jamnick NA; Metabolic Research Unit, Institute for Mental and Physical Health and Clinical Translation, School of Medicine, Deakin University, Geelong, VIC, Australia., Pitchford NW; School of Health Sciences, University of Tasmania, Launceston, TAS, Australia., Garnham A; Institute for Health and Sport, Victoria University, Melbourne, VIC, Australia., Bartlett JD; Institute for Health and Sport, Victoria University, Melbourne, VIC, Australia., Chen H; College of Exercise and Health, Guangzhou Sport University, Guangzhou, China., Bishop DJ; Institute for Health and Sport, Victoria University, Melbourne, VIC, Australia.
Publikováno v:
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Jul 22; Vol. 13, pp. 863224. Date of Electronic Publication: 2022 Jul 22 (Print Publication: 2022).
Autor:
Robinson DRL; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia., Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia., Muellner-Wong L; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; The Royal Children's Hospital, Murdoch Children's Research Institute, Parkville, VIC, Australia., Kugapreethan R; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia., Reljic B; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC, Australia., Surgenor EE; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC, Australia.; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia., Rodrigues CHM; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Baker Heart and Diabetes Institute, Melbourne, VIC, Australia., Caruana NJ; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; Institute for Health and Sport (IHES), Victoria University, Melbourne, VIC, Australia., Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.; The Royal Children's Hospital, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Publikováno v:
Frontiers in cell and developmental biology [Front Cell Dev Biol] 2022 Mar 01; Vol. 10, pp. 786268. Date of Electronic Publication: 2022 Mar 01 (Print Publication: 2022).