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The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Bisello, Giovanni; Kusmierska, Katarzyna; Verbeek, Marcel M; Sykut-Cegielska, Jolanta; Willemsen, Michèl A A P; Wevers, Ron A; Szymanska, Krystyna; Poznanski, Jaroslaw; Drozak, Jakub; Wertheim-Tysarowska, Katarzyna; Rygiel, Agnieszka Magdalena; Bertoldi, Mariarita.
Affiliation
  • Bisello G; Department of Neuroscience, Biomedicine and Movement Sciences, Section of Biochemistry, University of Verona, Strada Le Grazie 8, 37134, Verona, Italy.
  • Kusmierska K; Department of Screening and Metabolic Diagnostics, Institute of Mother and Child, Warsaw, Poland.
  • Verbeek MM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
  • Sykut-Cegielska J; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Cente, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
  • Willemsen MAAP; Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.
  • Wevers RA; Department of Pediatric Neurology, Radboud University Medical Centre, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
  • Szymanska K; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Cente, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
  • Poznanski J; Department of Child and Adolescent Psychiatry, Medical University of Warsaw, Warsaw, Poland.
  • Drozak J; Department of Biophysics, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland.
  • Wertheim-Tysarowska K; Department of Metabolic Regulation, Faculty of Biology, University of Warsaw, Warsaw, Poland.
  • Rygiel AM; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Bertoldi M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Cell Mol Life Sci ; 79(6): 305, 2022 May 20.
Article in En | MEDLINE | ID: mdl-35593933
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aromatic-L-Amino-Acid Decarboxylases / Amino Acid Metabolism, Inborn Errors Limits: Humans Language: En Journal: Cell Mol Life Sci Journal subject: BIOLOGIA MOLECULAR Year: 2022 Document type: Article Affiliation country: Italy Country of publication: Switzerland
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aromatic-L-Amino-Acid Decarboxylases / Amino Acid Metabolism, Inborn Errors Limits: Humans Language: En Journal: Cell Mol Life Sci Journal subject: BIOLOGIA MOLECULAR Year: 2022 Document type: Article Affiliation country: Italy Country of publication: Switzerland