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Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
Dohrn, Maike F; Beijer, Danique; Lone, Museer A; Bayraktar, Elif; Oflazer, Piraye; Orbach, Rotem; Donkervoort, Sandra; Foley, A Reghan; Rose, Aubrey; Lyons, Michael; Louie, Raymond J; Gable, Kenneth; Dunn, Teresa; Chen, Sitong; Danzi, Matt C; Synofzik, Matthis; Bönnemann, Carsten G; Nazli Basak, A; Hornemann, Thorsten; Zuchner, Stephan.
Afiliação
  • Dohrn MF; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.
  • Beijer D; Department of Neurology, Medical Faculty RWTH Aachen University, Aachen, Germany.
  • Lone MA; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.
  • Bayraktar E; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Oflazer P; Institute of Clinical Chemistry, University Hospital Zürich, Zürich, Switzerland.
  • Orbach R; Koç University, School of Medicine, Translational Medicine Research Center- NDAL, Istanbul, Turkey.
  • Donkervoort S; Koç University, School of Medicine, Department of Neurology, Istanbul, Turkey.
  • Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.
  • Rose A; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.
  • Lyons M; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.
  • Louie RJ; Greenwood Genetic Center Foundation, Greenwood, South Carolina, USA.
  • Gable K; Greenwood Genetic Center Foundation, Greenwood, South Carolina, USA.
  • Dunn T; Greenwood Genetic Center Foundation, Greenwood, South Carolina, USA.
  • Chen S; Department of Biochemistry and Molecular Biology, Uniformed Services University, Bethesda, Maryland, USA.
  • Danzi MC; Department of Biochemistry and Molecular Biology, Uniformed Services University, Bethesda, Maryland, USA.
  • Synofzik M; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.
  • Bönnemann CG; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.
  • Nazli Basak A; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Hornemann T; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
  • Zuchner S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.
J Neurol Neurosurg Psychiatry ; 95(3): 201-205, 2024 Feb 14.
Article em En | MEDLINE | ID: mdl-38041684
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Serina C-Palmitoiltransferase / Esclerose Lateral Amiotrófica Limite: Humans Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Serina C-Palmitoiltransferase / Esclerose Lateral Amiotrófica Limite: Humans Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos