View in EDS HTML Full Text PDF Full Text

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.

Saved in:
Bibliographic Details
Title: Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Authors: Erdinc D; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Rodríguez-Luis A; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Fassad MR; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Mackenzie S; The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Watson CM; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK.; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK., Valenzuela S; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Xie X; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Menger KE; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Sergeant K; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Craig K; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Hopton S; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Falkous G; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Poulton J; Nuffield Department of Women's & Reproductive Health, The Women's Centre, University of Oxford, Oxford, UK., Garcia-Moreno H; Department of Clinical and Movement Neurosciences, Ataxia Centre, UCL Queen Square Institute of Neurology, London, UK., Giunti P; Department of Clinical and Movement Neurosciences, Ataxia Centre, UCL Queen Square Institute of Neurology, London, UK., de Moura Aschoff CA; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Morales Saute JA; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Kirby AJ; Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC, USA., Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Wolfe L; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Novacic D; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Greenbaum L; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Eliyahu A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Barel O; Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Tel Hashomer, Israel., Anikster Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., McFarland R; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Gorman GS; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Schaefer AM; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Gustafsson CM; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden., Taylor RW; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Falkenberg M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Nicholls TJ; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Corporate Authors: Genomics England Research Consortium
Source: EMBO molecular medicine [EMBO Mol Med] 2023 May 08; Vol. 15 (5), pp. e16775. Date of Electronic Publication: 2023 Apr 04.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med 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: 37013609
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Erdinc+D%22">Erdinc D</searchLink>; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Rodríguez-Luis+A%22">Rodríguez-Luis A</searchLink>; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Fassad+MR%22">Fassad MR</searchLink>; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Mackenzie+S%22">Mackenzie S</searchLink>; The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Watson+CM%22">Watson CM</searchLink>; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK.; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Valenzuela+S%22">Valenzuela S</searchLink>; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Xie+X%22">Xie X</searchLink>; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Menger+KE%22">Menger KE</searchLink>; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Sergeant+K%22">Sergeant K</searchLink>; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Craig+K%22">Craig K</searchLink>; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Hopton+S%22">Hopton S</searchLink>; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Falkous+G%22">Falkous G</searchLink>; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Poulton+J%22">Poulton J</searchLink>; Nuffield Department of Women's & Reproductive Health, The Women's Centre, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Garcia-Moreno+H%22">Garcia-Moreno H</searchLink>; Department of Clinical and Movement Neurosciences, Ataxia Centre, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Giunti+P%22">Giunti P</searchLink>; Department of Clinical and Movement Neurosciences, Ataxia Centre, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22de+Moura+Aschoff+CA%22">de Moura Aschoff CA</searchLink>; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.<br /><searchLink fieldCode="AU" term="%22Morales+Saute+JA%22">Morales Saute JA</searchLink>; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.<br /><searchLink fieldCode="AU" term="%22Kirby+AJ%22">Kirby AJ</searchLink>; Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC, USA.<br /><searchLink fieldCode="AU" term="%22Toro+C%22">Toro C</searchLink>; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Wolfe+L%22">Wolfe L</searchLink>; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Novacic+D%22">Novacic D</searchLink>; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Greenbaum+L%22">Greenbaum L</searchLink>; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Eliyahu+A%22">Eliyahu A</searchLink>; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Barel+O%22">Barel O</searchLink>; Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Anikster+Y%22">Anikster Y</searchLink>; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22McFarland+R%22">McFarland R</searchLink>; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Gorman+GS%22">Gorman GS</searchLink>; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Schaefer+AM%22">Schaefer AM</searchLink>; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Gustafsson+CM%22">Gustafsson CM</searchLink>; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Taylor+RW%22">Taylor RW</searchLink>; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Falkenberg+M%22">Falkenberg M</searchLink>; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Nicholls+TJ%22">Nicholls TJ</searchLink>; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
– Name: AuthorCorporate
  Label: Corporate Authors
  Group: Au
  Data: <searchLink fieldCode="CA" term="%22Genomics+England+Research+Consortium%22">Genomics England Research Consortium</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101487380%22">EMBO molecular medicine</searchLink> [EMBO Mol Med] 2023 May 08; Vol. 15 (5), pp. e16775. <i>Date of Electronic Publication: </i>2023 Apr 04.
– 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="%22EMBO+Press%22">EMBO Press </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>101487380 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1757-4684 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217574676%22">17574676 </searchLink><i>NLM ISO Abbreviation: </i>EMBO Mol Med <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37013609
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.15252/emmm.202216775
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: e16775
    Titles:
      – TitleFull: Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Erdinc D
      – PersonEntity:
          Name:
            NameFull: Rodríguez-Luis A
      – PersonEntity:
          Name:
            NameFull: Fassad MR
      – PersonEntity:
          Name:
            NameFull: Mackenzie S
      – PersonEntity:
          Name:
            NameFull: Watson CM
      – PersonEntity:
          Name:
            NameFull: Valenzuela S
      – PersonEntity:
          Name:
            NameFull: Xie X
      – PersonEntity:
          Name:
            NameFull: Menger KE
      – PersonEntity:
          Name:
            NameFull: Sergeant K
      – PersonEntity:
          Name:
            NameFull: Craig K
      – PersonEntity:
          Name:
            NameFull: Hopton S
      – PersonEntity:
          Name:
            NameFull: Falkous G
      – PersonEntity:
          Name:
            NameFull: Poulton J
      – PersonEntity:
          Name:
            NameFull: Garcia-Moreno H
      – PersonEntity:
          Name:
            NameFull: Giunti P
      – PersonEntity:
          Name:
            NameFull: de Moura Aschoff CA
      – PersonEntity:
          Name:
            NameFull: Morales Saute JA
      – PersonEntity:
          Name:
            NameFull: Kirby AJ
      – PersonEntity:
          Name:
            NameFull: Toro C
      – PersonEntity:
          Name:
            NameFull: Wolfe L
      – PersonEntity:
          Name:
            NameFull: Novacic D
      – PersonEntity:
          Name:
            NameFull: Greenbaum L
      – PersonEntity:
          Name:
            NameFull: Eliyahu A
      – PersonEntity:
          Name:
            NameFull: Barel O
      – PersonEntity:
          Name:
            NameFull: Anikster Y
      – PersonEntity:
          Name:
            NameFull: McFarland R
      – PersonEntity:
          Name:
            NameFull: Gorman GS
      – PersonEntity:
          Name:
            NameFull: Schaefer AM
      – PersonEntity:
          Name:
            NameFull: Gustafsson CM
      – PersonEntity:
          Name:
            NameFull: Taylor RW
      – PersonEntity:
          Name:
            NameFull: Falkenberg M
      – PersonEntity:
          Name:
            NameFull: Nicholls TJ
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 08
              M: 05
              Text: 2023 May 08
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 1757-4684
          Numbering:
            – Type: volume
              Value: 15
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: EMBO molecular medicine
              Type: main
ResultId 1