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Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.

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Title: Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.
Authors: Jiang H; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Alahmad A; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Kuwait Medical Genetics Centre, Kuwait City, Kuwait., Fu S; Graduate School of Peking Union Medical College, Beijing, China.; National Institute of Biological Sciences, Beijing, China., Fu X; Department of Pediatrics, Guizhou Provincial People's Hospital, Guiyang, China., Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Han X; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Li L; National Institute of Biological Sciences, Beijing, China., Song T; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Xu M; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Liu S; Graduate School of Peking Union Medical College, Beijing, China.; National Institute of Biological Sciences, Beijing, China., Wang J; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Albash B; Kuwait Medical Genetics Centre, Kuwait City, Kuwait., Alaqeel A; Kuwait Medical Genetics Centre, Kuwait City, Kuwait., Catalina V; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany., Prokisch H; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Mar; Vol. 45 (2), pp. 264-277. Date of Electronic Publication: 2022 Jan 08.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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An: 34873722
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  Data: Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.
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  Data: <searchLink fieldCode="AU" term="%22Jiang+H%22">Jiang H</searchLink>; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Alahmad+A%22">Alahmad A</searchLink>; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Kuwait Medical Genetics Centre, Kuwait City, Kuwait.<br /><searchLink fieldCode="AU" term="%22Fu+S%22">Fu S</searchLink>; Graduate School of Peking Union Medical College, Beijing, China.; National Institute of Biological Sciences, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Fu+X%22">Fu X</searchLink>; Department of Pediatrics, Guizhou Provincial People's Hospital, Guiyang, China.<br /><searchLink fieldCode="AU" term="%22Liu+Z%22">Liu Z</searchLink>; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Han+X%22">Han X</searchLink>; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Li+L%22">Li L</searchLink>; National Institute of Biological Sciences, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Song+T%22">Song T</searchLink>; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Xu+M%22">Xu M</searchLink>; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Liu+S%22">Liu S</searchLink>; Graduate School of Peking Union Medical College, Beijing, China.; National Institute of Biological Sciences, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Wang+J%22">Wang J</searchLink>; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Albash+B%22">Albash B</searchLink>; Kuwait Medical Genetics Centre, Kuwait City, Kuwait.<br /><searchLink fieldCode="AU" term="%22Alaqeel+A%22">Alaqeel A</searchLink>; Kuwait Medical Genetics Centre, Kuwait City, Kuwait.<br /><searchLink fieldCode="AU" term="%22Catalina+V%22">Catalina V</searchLink>; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Prokisch+H%22">Prokisch H</searchLink>; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Taylor+RW%22">Taylor RW</searchLink>; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22McFarland+R%22">McFarland R</searchLink>; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Fang+F%22">Fang F</searchLink>; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
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  Data: <searchLink fieldCode="JN" term="%227910918%22">Journal of inherited metabolic disease</searchLink> [J Inherit Metab Dis] 2022 Mar; Vol. 45 (2), pp. 264-277. <i>Date of Electronic Publication: </i>2022 Jan 08.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7910918 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-2665 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2201418955%22">01418955 </searchLink><i>NLM ISO Abbreviation: </i>J Inherit Metab Dis <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1002/jimd.12462
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      – Code: eng
        Text: English
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        StartPage: 264
    Titles:
      – TitleFull: Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.
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              Text: 2022 Mar
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