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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Siekierska, Aleksandra; Stamberger, Hannah; Deconinck, Tine; Oprescu, Stephanie N; Partoens, Michèle; Zhang, Yifan; Sourbron, Jo; Adriaenssens, Elias; Mullen, Patrick; Wiencek, Patrick; Hardies, Katia; Lee, Jeong-Soo; Giong, Hoi-Khoanh; Distelmaier, Felix; Elpeleg, Orly; Helbig, Katherine L; Hersh, Joseph; Isikay, Sedat; Jordan, Elizabeth; Karaca, Ender; Kecskes, Angela; Lupski, James R; Kovacs-Nagy, Reka; May, Patrick; Narayanan, Vinodh; Pendziwiat, Manuela; Ramsey, Keri; Rangasamy, Sampathkumar; Shinde, Deepali N; Spiegel, Ronen; Timmerman, Vincent; von Spiczak, Sarah; Helbig, Ingo; Weckhuysen, Sarah; Francklyn, Christopher; Antonellis, Anthony; de Witte, Peter; De Jonghe, Peter.
Afiliación
  • Siekierska A; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, 3000, Belgium.
  • Stamberger H; Neurogenetics Group, Center for Molecular Neurology, VIB, University of Antwerp, Antwerp, 2610, Belgium.
  • Deconinck T; Institute Born Bunge, University of Antwerp, Antwerp, 2610, Belgium.
  • Oprescu SN; Department of Neurology, Antwerp University Hospital, Antwerp, 2650, Belgium.
  • Partoens M; Neurogenetics Group, Center for Molecular Neurology, VIB, University of Antwerp, Antwerp, 2610, Belgium.
  • Zhang Y; Institute Born Bunge, University of Antwerp, Antwerp, 2610, Belgium.
  • Sourbron J; Department of Human Genetics, University of Michigan, Ann Arbor, MI, 48109, USA.
  • Adriaenssens E; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, 3000, Belgium.
  • Mullen P; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, 3000, Belgium.
  • Wiencek P; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, 3000, Belgium.
  • Hardies K; Institute Born Bunge, University of Antwerp, Antwerp, 2610, Belgium.
  • Lee JS; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, 2610, Belgium.
  • Giong HK; Department of Biochemistry, University of Vermont, Burlington, VT, 05405, USA.
  • Distelmaier F; Department of Biochemistry, University of Vermont, Burlington, VT, 05405, USA.
  • Elpeleg O; Neurogenetics Group, Center for Molecular Neurology, VIB, University of Antwerp, Antwerp, 2610, Belgium.
  • Helbig KL; Institute Born Bunge, University of Antwerp, Antwerp, 2610, Belgium.
  • Hersh J; Disease Target Structure Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, 34141, Republic of Korea.
  • Isikay S; KRIBB School, University of Science and Technology, Daejeon, 34141, Republic of Korea.
  • Jordan E; Dementia DTC R&D Convergence Program, Korea Institute of Science and Technology, Seoul, 02792, Republic of Korea.
  • Karaca E; Disease Target Structure Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, 34141, Republic of Korea.
  • Kecskes A; KRIBB School, University of Science and Technology, Daejeon, 34141, Republic of Korea.
  • Lupski JR; Dementia DTC R&D Convergence Program, Korea Institute of Science and Technology, Seoul, 02792, Republic of Korea.
  • Kovacs-Nagy R; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf, 40225, Germany.
  • May P; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, 01120, Israel.
  • Narayanan V; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
  • Pendziwiat M; Department of Pediatrics, Medicine, University of Louisville School of Medicine, 571S Floyd Street, Louisville, Kentucky, 40202, USA.
  • Ramsey K; Department of Physiotherapy and Rehabilitation, Hasan Kalyoncu University, School of Health Sciences, Gaziantep, 27410, Turkey.
  • Rangasamy S; The Ohio State University Division of Human Genetics, Department of Internal Medicine, 460 W 12th Ave, Columbus, Ohio, 43210, USA.
  • Shinde DN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Spiegel R; Department of Genetics, University of Alabama, Birmingham, AL, 35233, USA.
  • Timmerman V; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, 3000, Belgium.
  • von Spiczak S; Department of Pharmacology and Pharmacotherapy, University of Pecs, Pecs, 7622, Hungary.
  • Helbig I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Weckhuysen S; Texas Children's Hospital, Houston, TX, 77030, USA.
  • Francklyn C; Institute of Human Genetics, Technische Universität München, München, 81675, Germany.
  • Antonellis A; Luxembourg Center for Systems Biomedicine, University Luxembourg, Esch-sur-Alzette, 4365, Luxembourg.
  • de Witte P; Center for Rare Childhood Disorders, The Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.
  • De Jonghe P; Department of Neuropediatrics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, 24105, Germany.
Nat Commun ; 10(1): 708, 2019 02 12.
Article en En | MEDLINE | ID: mdl-30755616
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Valina-ARNt Ligasa / Encefalopatías / Microcefalia Límite: Animals / Female / Humans / Male Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2019 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Valina-ARNt Ligasa / Encefalopatías / Microcefalia Límite: Animals / Female / Humans / Male Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2019 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Reino Unido