View in EDS HTML Full Text PDF Full Text

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Saved in:
Bibliographic Details
Title: KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Authors: Metz KA; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD., Teng X; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China., Coppens I; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD., Lamb HM; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD., Wagner BE; Histopathology Department, Royal Hallamshire Hospital, Sheffield, United Kingdom., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Chen X; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China., Zhang Y; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China., Kim HJ; Department of Biological Chemistry, David Geffen School of Medicine at UCLA, Los Angeles, CA., Meadow ME; Department of Biological Chemistry, David Geffen School of Medicine at UCLA, Los Angeles, CA., Wang TS; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD., Haberlandt ED; Clinical Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.; Department of Child and Youth Health, Hospital of Dornbirn, Dornbirn, Austria., Anderson GW; Histopathology Department, Great Ormond Street Hospital for Children, London, United Kingdom., Leshinsky-Silver E; Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Markello TC; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Pratt M; Department of Pediatrics, University of Oklahoma College of Medicine, Oklahoma City, OK., Makhseed N; Department of Pediatrics, Jahra Hospital, Ministry of Health, Al Jahra, Kuwait., Garnica A; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR., Danylchuk NR; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR., Burrow TA; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL., McKnight D; GeneDx, Gaithersburg, MD., Agadi S; Department of Neurology, Texas Children's Hospital, Houston, TX., Gbedawo H; Vital Kids Medicine, Seattle, WA., Stanley C; Courtagen Life Sciences, Woburn, MA., Alber M; Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany., Prehl I; Practice for Human Genetics, CeGaT, Tübingen, Germany., Peariso K; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH., Ong MT; Department of Paediatric Neurology, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom., Mordekar SR; Department of Paediatric Neurology, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom., Crooks D; Department of Neuropathology, Walton Centre National Health Service Foundation Trust, Liverpool, United Kingdom., Agrawal PB; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA., Berry GT; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA., Loddenkemper T; Department of Neurology, Boston Children's Hospital, Boston, MA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Maegawa GHB; Department of Pediatrics/Genetics and Metabolism, University of Florida, Gainesville, FL., Aouacheria A; Montpellier Institute of Evolution Sciences, University of Montpellier, CNRS, EPHE, IRD, Montpellier, France., Markle JG; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD., Wohlschlegel JA; Department of Biological Chemistry, David Geffen School of Medicine at UCLA, Los Angeles, CA., Hartman AL; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD., Hardwick JM; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
Source: Annals of neurology [Ann Neurol] 2018 Nov; Vol. 84 (5), pp. 766-780. Date of Electronic Publication: 2018 Nov 08.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 30295347
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Metz+KA%22">Metz KA</searchLink>; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.<br /><searchLink fieldCode="AU" term="%22Teng+X%22">Teng X</searchLink>; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China.<br /><searchLink fieldCode="AU" term="%22Coppens+I%22">Coppens I</searchLink>; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.<br /><searchLink fieldCode="AU" term="%22Lamb+HM%22">Lamb HM</searchLink>; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.<br /><searchLink fieldCode="AU" term="%22Wagner+BE%22">Wagner BE</searchLink>; Histopathology Department, Royal Hallamshire Hospital, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Chen+X%22">Chen X</searchLink>; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China.<br /><searchLink fieldCode="AU" term="%22Zhang+Y%22">Zhang Y</searchLink>; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China.<br /><searchLink fieldCode="AU" term="%22Kim+HJ%22">Kim HJ</searchLink>; Department of Biological Chemistry, David Geffen School of Medicine at UCLA, Los Angeles, CA.<br /><searchLink fieldCode="AU" term="%22Meadow+ME%22">Meadow ME</searchLink>; Department of Biological Chemistry, David Geffen School of Medicine at UCLA, Los Angeles, CA.<br /><searchLink fieldCode="AU" term="%22Wang+TS%22">Wang TS</searchLink>; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD.<br /><searchLink fieldCode="AU" term="%22Haberlandt+ED%22">Haberlandt ED</searchLink>; Clinical Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.; Department of Child and Youth Health, Hospital of Dornbirn, Dornbirn, Austria.<br /><searchLink fieldCode="AU" term="%22Anderson+GW%22">Anderson GW</searchLink>; Histopathology Department, Great Ormond Street Hospital for Children, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Leshinsky-Silver+E%22">Leshinsky-Silver E</searchLink>; Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel.<br /><searchLink fieldCode="AU" term="%22Bi+W%22">Bi W</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Markello+TC%22">Markello TC</searchLink>; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Pratt+M%22">Pratt M</searchLink>; Department of Pediatrics, University of Oklahoma College of Medicine, Oklahoma City, OK.<br /><searchLink fieldCode="AU" term="%22Makhseed+N%22">Makhseed N</searchLink>; Department of Pediatrics, Jahra Hospital, Ministry of Health, Al Jahra, Kuwait.<br /><searchLink fieldCode="AU" term="%22Garnica+A%22">Garnica A</searchLink>; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR.<br /><searchLink fieldCode="AU" term="%22Danylchuk+NR%22">Danylchuk NR</searchLink>; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR.<br /><searchLink fieldCode="AU" term="%22Burrow+TA%22">Burrow TA</searchLink>; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR.<br /><searchLink fieldCode="AU" term="%22Jayakar+P%22">Jayakar P</searchLink>; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL.<br /><searchLink fieldCode="AU" term="%22McKnight+D%22">McKnight D</searchLink>; GeneDx, Gaithersburg, MD.<br /><searchLink fieldCode="AU" term="%22Agadi+S%22">Agadi S</searchLink>; Department of Neurology, Texas Children's Hospital, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Gbedawo+H%22">Gbedawo H</searchLink>; Vital Kids Medicine, Seattle, WA.<br /><searchLink fieldCode="AU" term="%22Stanley+C%22">Stanley C</searchLink>; Courtagen Life Sciences, Woburn, MA.<br /><searchLink fieldCode="AU" term="%22Alber+M%22">Alber M</searchLink>; Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Prehl+I%22">Prehl I</searchLink>; Practice for Human Genetics, CeGaT, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Peariso+K%22">Peariso K</searchLink>; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.<br /><searchLink fieldCode="AU" term="%22Ong+MT%22">Ong MT</searchLink>; Department of Paediatric Neurology, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Mordekar+SR%22">Mordekar SR</searchLink>; Department of Paediatric Neurology, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Parker+MJ%22">Parker MJ</searchLink>; Sheffield Clinical Genetics Service, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Crooks+D%22">Crooks D</searchLink>; Department of Neuropathology, Walton Centre National Health Service Foundation Trust, Liverpool, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Agrawal+PB%22">Agrawal PB</searchLink>; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Berry+GT%22">Berry GT</searchLink>; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Loddenkemper+T%22">Loddenkemper T</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Yang+Y%22">Yang Y</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Maegawa+GHB%22">Maegawa GHB</searchLink>; Department of Pediatrics/Genetics and Metabolism, University of Florida, Gainesville, FL.<br /><searchLink fieldCode="AU" term="%22Aouacheria+A%22">Aouacheria A</searchLink>; Montpellier Institute of Evolution Sciences, University of Montpellier, CNRS, EPHE, IRD, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Markle+JG%22">Markle JG</searchLink>; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.<br /><searchLink fieldCode="AU" term="%22Wohlschlegel+JA%22">Wohlschlegel JA</searchLink>; Department of Biological Chemistry, David Geffen School of Medicine at UCLA, Los Angeles, CA.<br /><searchLink fieldCode="AU" term="%22Hartman+AL%22">Hartman AL</searchLink>; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.<br /><searchLink fieldCode="AU" term="%22Hardwick+JM%22">Hardwick JM</searchLink>; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%227707449%22">Annals of neurology</searchLink> [Ann Neurol] 2018 Nov; Vol. 84 (5), pp. 766-780. <i>Date of Electronic Publication: </i>2018 Nov 08.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, N.I.H., Extramural; 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>7707449 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1531-8249 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203645134%22">03645134 </searchLink><i>NLM ISO Abbreviation: </i>Ann Neurol
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30295347
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ana.25351
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 766
    Titles:
      – TitleFull: KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Metz KA
      – PersonEntity:
          Name:
            NameFull: Teng X
      – PersonEntity:
          Name:
            NameFull: Coppens I
      – PersonEntity:
          Name:
            NameFull: Lamb HM
      – PersonEntity:
          Name:
            NameFull: Wagner BE
      – PersonEntity:
          Name:
            NameFull: Rosenfeld JA
      – PersonEntity:
          Name:
            NameFull: Chen X
      – PersonEntity:
          Name:
            NameFull: Zhang Y
      – PersonEntity:
          Name:
            NameFull: Kim HJ
      – PersonEntity:
          Name:
            NameFull: Meadow ME
      – PersonEntity:
          Name:
            NameFull: Wang TS
      – PersonEntity:
          Name:
            NameFull: Haberlandt ED
      – PersonEntity:
          Name:
            NameFull: Anderson GW
      – PersonEntity:
          Name:
            NameFull: Leshinsky-Silver E
      – PersonEntity:
          Name:
            NameFull: Bi W
      – PersonEntity:
          Name:
            NameFull: Markello TC
      – PersonEntity:
          Name:
            NameFull: Pratt M
      – PersonEntity:
          Name:
            NameFull: Makhseed N
      – PersonEntity:
          Name:
            NameFull: Garnica A
      – PersonEntity:
          Name:
            NameFull: Danylchuk NR
      – PersonEntity:
          Name:
            NameFull: Burrow TA
      – PersonEntity:
          Name:
            NameFull: Jayakar P
      – PersonEntity:
          Name:
            NameFull: McKnight D
      – PersonEntity:
          Name:
            NameFull: Agadi S
      – PersonEntity:
          Name:
            NameFull: Gbedawo H
      – PersonEntity:
          Name:
            NameFull: Stanley C
      – PersonEntity:
          Name:
            NameFull: Alber M
      – PersonEntity:
          Name:
            NameFull: Prehl I
      – PersonEntity:
          Name:
            NameFull: Peariso K
      – PersonEntity:
          Name:
            NameFull: Ong MT
      – PersonEntity:
          Name:
            NameFull: Mordekar SR
      – PersonEntity:
          Name:
            NameFull: Parker MJ
      – PersonEntity:
          Name:
            NameFull: Crooks D
      – PersonEntity:
          Name:
            NameFull: Agrawal PB
      – PersonEntity:
          Name:
            NameFull: Berry GT
      – PersonEntity:
          Name:
            NameFull: Loddenkemper T
      – PersonEntity:
          Name:
            NameFull: Yang Y
      – PersonEntity:
          Name:
            NameFull: Maegawa GHB
      – PersonEntity:
          Name:
            NameFull: Aouacheria A
      – PersonEntity:
          Name:
            NameFull: Markle JG
      – PersonEntity:
          Name:
            NameFull: Wohlschlegel JA
      – PersonEntity:
          Name:
            NameFull: Hartman AL
      – PersonEntity:
          Name:
            NameFull: Hardwick JM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 11
              Text: 2018 Nov
              Type: published
              Y: 2018
          Identifiers:
            – Type: issn-electronic
              Value: 1531-8249
          Numbering:
            – Type: volume
              Value: 84
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: Annals of neurology
              Type: main
ResultId 1