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Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency.
Staklinski, Stephen J; Chang, Mario C; Yu, Fang; Collins Ruff, Kathleen; Franz, David N; Qian, Zhijian; Bloom, Linda B; Merritt, Matthew E; McKenna, Robert; Kilberg, Michael S.
Afiliação
  • Staklinski SJ; Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA.
  • Chang MC; Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA.
  • Yu F; Department of Medicine, UF Health Cancer Center, University of Florida College of Medicine, Gainesville, Florida, USA.
  • Collins Ruff K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Franz DN; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Qian Z; Department of Medicine, UF Health Cancer Center, University of Florida College of Medicine, Gainesville, Florida, USA.
  • Bloom LB; Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA.
  • Merritt ME; Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA.
  • McKenna R; Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA.
  • Kilberg MS; Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA. Electronic address: mkilberg72@gmail.com.
J Biol Chem ; 298(9): 102385, 2022 09.
Article em En | MEDLINE | ID: mdl-35985424
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aspartato-Amônia Ligase / Doenças Neurodegenerativas / Erros Inatos do Metabolismo dos Aminoácidos / Deficiência Intelectual / Microcefalia Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aspartato-Amônia Ligase / Doenças Neurodegenerativas / Erros Inatos do Metabolismo dos Aminoácidos / Deficiência Intelectual / Microcefalia Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article