View in EDS HTML Full Text PDF Full Text

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Saved in:
Bibliographic Details
Title: Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Authors: Saoura M; York College, The City University of New York, Jamaica, New York., Powell CA; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK., Kopajtich R; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Alahmad A; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.; Kuwait Medical Genetics Center, Kuwait City, Kuwait., Al-Balool HH; Kuwait Medical Genetics Center, Kuwait City, Kuwait., Albash B; Kuwait Medical Genetics Center, Kuwait City, Kuwait., Alfadhel M; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Bertini E; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Bratkovic D; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Carrozzo R; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., Donati MA; Metabolic Unit, A. Meyer Children's Hospital, Florence, Italy., Di Nottia M; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Goldstein A; Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, USA., Haan E; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Horvath R; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Hughes J; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland., Invernizzi F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lucas B; York College, The City University of New York, Jamaica, New York., Pinnock KG; York College, The City University of New York, Jamaica, New York., Pujantell M; York College, The City University of New York, Jamaica, New York., Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK., Rebelo-Guiomar P; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Graduate Program in Areas of Basic and Applied Biology, University of Porto, Porto, Portugal., Santra S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Verrigni D; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., McFarland R; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Prokisch H; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Levinger L; York College, The City University of New York, Jamaica, New York., Minczuk M; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
Source: Human mutation [Hum Mutat] 2019 Oct; Vol. 40 (10), pp. 1731-1748. Date of Electronic Publication: 2019 Jun 18.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 31045291
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Saoura+M%22">Saoura M</searchLink>; York College, The City University of New York, Jamaica, New York.<br /><searchLink fieldCode="AU" term="%22Powell+CA%22">Powell CA</searchLink>; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Kopajtich+R%22">Kopajtich R</searchLink>; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.<br /><searchLink fieldCode="AU" term="%22Alahmad+A%22">Alahmad A</searchLink>; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.; Kuwait Medical Genetics Center, Kuwait City, Kuwait.<br /><searchLink fieldCode="AU" term="%22Al-Balool+HH%22">Al-Balool HH</searchLink>; Kuwait Medical Genetics Center, Kuwait City, Kuwait.<br /><searchLink fieldCode="AU" term="%22Albash+B%22">Albash B</searchLink>; Kuwait Medical Genetics Center, Kuwait City, Kuwait.<br /><searchLink fieldCode="AU" term="%22Alfadhel+M%22">Alfadhel M</searchLink>; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alston+CL%22">Alston CL</searchLink>; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Bertini+E%22">Bertini E</searchLink>; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Bonnen+PE%22">Bonnen PE</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Bratkovic+D%22">Bratkovic D</searchLink>; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Carrozzo+R%22">Carrozzo R</searchLink>; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Donati+MA%22">Donati MA</searchLink>; Metabolic Unit, A. Meyer Children's Hospital, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Nottia+M%22">Di Nottia M</searchLink>; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Ghezzi+D%22">Ghezzi D</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Goldstein+A%22">Goldstein A</searchLink>; Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, USA.<br /><searchLink fieldCode="AU" term="%22Haan+E%22">Haan E</searchLink>; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Horvath+R%22">Horvath R</searchLink>; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Hughes+J%22">Hughes J</searchLink>; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Invernizzi+F%22">Invernizzi F</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Lamantea+E%22">Lamantea E</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Lucas+B%22">Lucas B</searchLink>; York College, The City University of New York, Jamaica, New York.<br /><searchLink fieldCode="AU" term="%22Pinnock+KG%22">Pinnock KG</searchLink>; York College, The City University of New York, Jamaica, New York.<br /><searchLink fieldCode="AU" term="%22Pujantell+M%22">Pujantell M</searchLink>; York College, The City University of New York, Jamaica, New York.<br /><searchLink fieldCode="AU" term="%22Rahman+S%22">Rahman S</searchLink>; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Rebelo-Guiomar+P%22">Rebelo-Guiomar P</searchLink>; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Graduate Program in Areas of Basic and Applied Biology, University of Porto, Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Santra+S%22">Santra S</searchLink>; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Verrigni+D%22">Verrigni D</searchLink>; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22McFarland+R%22">McFarland R</searchLink>; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.<br /><searchLink fieldCode="AU" term="%22Prokisch+H%22">Prokisch H</searchLink>; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.<br /><searchLink fieldCode="AU" term="%22Taylor+RW%22">Taylor RW</searchLink>; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Levinger+L%22">Levinger L</searchLink>; York College, The City University of New York, Jamaica, New York.<br /><searchLink fieldCode="AU" term="%22Minczuk+M%22">Minczuk M</searchLink>; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2019 Oct; Vol. 40 (10), pp. 1731-1748. <i>Date of Electronic Publication: </i>2019 Jun 18.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31045291
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/humu.23777
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 1731
    Titles:
      – TitleFull: Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Saoura M
      – PersonEntity:
          Name:
            NameFull: Powell CA
      – PersonEntity:
          Name:
            NameFull: Kopajtich R
      – PersonEntity:
          Name:
            NameFull: Alahmad A
      – PersonEntity:
          Name:
            NameFull: Al-Balool HH
      – PersonEntity:
          Name:
            NameFull: Albash B
      – PersonEntity:
          Name:
            NameFull: Alfadhel M
      – PersonEntity:
          Name:
            NameFull: Alston CL
      – PersonEntity:
          Name:
            NameFull: Bertini E
      – PersonEntity:
          Name:
            NameFull: Bonnen PE
      – PersonEntity:
          Name:
            NameFull: Bratkovic D
      – PersonEntity:
          Name:
            NameFull: Carrozzo R
      – PersonEntity:
          Name:
            NameFull: Donati MA
      – PersonEntity:
          Name:
            NameFull: Di Nottia M
      – PersonEntity:
          Name:
            NameFull: Ghezzi D
      – PersonEntity:
          Name:
            NameFull: Goldstein A
      – PersonEntity:
          Name:
            NameFull: Haan E
      – PersonEntity:
          Name:
            NameFull: Horvath R
      – PersonEntity:
          Name:
            NameFull: Hughes J
      – PersonEntity:
          Name:
            NameFull: Invernizzi F
      – PersonEntity:
          Name:
            NameFull: Lamantea E
      – PersonEntity:
          Name:
            NameFull: Lucas B
      – PersonEntity:
          Name:
            NameFull: Pinnock KG
      – PersonEntity:
          Name:
            NameFull: Pujantell M
      – PersonEntity:
          Name:
            NameFull: Rahman S
      – PersonEntity:
          Name:
            NameFull: Rebelo-Guiomar P
      – PersonEntity:
          Name:
            NameFull: Santra S
      – PersonEntity:
          Name:
            NameFull: Verrigni D
      – PersonEntity:
          Name:
            NameFull: McFarland R
      – PersonEntity:
          Name:
            NameFull: Prokisch H
      – PersonEntity:
          Name:
            NameFull: Taylor RW
      – PersonEntity:
          Name:
            NameFull: Levinger L
      – PersonEntity:
          Name:
            NameFull: Minczuk M
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 10
              Text: 2019 Oct
              Type: published
              Y: 2019
          Identifiers:
            – Type: issn-electronic
              Value: 1098-1004
          Numbering:
            – Type: volume
              Value: 40
            – Type: issue
              Value: 10
          Titles:
            – TitleFull: Human mutation
              Type: main
ResultId 1