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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
Faundes, Víctor; Jennings, Martin D; Crilly, Siobhan; Legraie, Sarah; Withers, Sarah E; Cuvertino, Sara; Davies, Sally J; Douglas, Andrew G L; Fry, Andrew E; Harrison, Victoria; Amiel, Jeanne; Lehalle, Daphné; Newman, William G; Newkirk, Patricia; Ranells, Judith; Splitt, Miranda; Cross, Laura A; Saunders, Carol J; Sullivan, Bonnie R; Granadillo, Jorge L; Gordon, Christopher T; Kasher, Paul R; Pavitt, Graham D; Banka, Siddharth.
Affiliation
  • Faundes V; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Jennings MD; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
  • Crilly S; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Legraie S; Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
  • Withers SE; Division of Neuroscience & Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Cuvertino S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Davies SJ; Division of Neuroscience & Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Douglas AGL; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • Amiel J; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.
  • Lehalle D; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Newman WG; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK.
  • Newkirk P; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • Ranells J; Department of Genetics, AP-HP, Hôpital Necker Enfants Malades, Paris, France.
  • Splitt M; 1Laboratory of Embryology and Genetics of Human Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Cross LA; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Saunders CJ; Department of Genetics, AP-HP, Hôpital Necker Enfants Malades, Paris, France.
  • Sullivan BR; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Granadillo JL; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • Gordon CT; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, UK.
  • Kasher PR; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, UK.
  • Pavitt GD; Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne, UK.
  • Banka S; Division of Clinical Genetics, Children's Mercy, Kansas City, MO, USA.
Nat Commun ; 12(1): 833, 2021 02 05.
Article in En | MEDLINE | ID: mdl-33547280
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Full text: 1 Database: MEDLINE Main subject: Developmental Disabilities / Peptide Initiation Factors / RNA-Binding Proteins / Gene Expression Regulation, Developmental / Microcephaly / Micrognathism Type of study: Etiology_studies / Prognostic_studies Language: En Journal: Nat Commun Year: 2021 Type: Article Affiliation country: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Database: MEDLINE Main subject: Developmental Disabilities / Peptide Initiation Factors / RNA-Binding Proteins / Gene Expression Regulation, Developmental / Microcephaly / Micrognathism Type of study: Etiology_studies / Prognostic_studies Language: En Journal: Nat Commun Year: 2021 Type: Article Affiliation country: United kingdom