KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
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| Title: | KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. |
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| 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 |
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| ISSN: | 1531-8249 |
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| DOI: | 10.1002/ana.25351 |
