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Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12.
Oussalah, Abderrahim; Siblini, Youssef; Hergalant, Sébastien; Chéry, Céline; Rouyer, Pierre; Cavicchi, Catia; Guerrini, Renzo; Morange, Pierre-Emmanuel; Trégouët, David; Pupavac, Mihaela; Watkins, David; Pastinen, Tomi; Chung, Wendy K; Ficicioglu, Can; Feillet, François; Froese, D Sean; Baumgartner, Matthias R; Benoist, Jean-François; Majewski, Jacek; Morrone, Amelia; Rosenblatt, David S; Guéant, Jean-Louis.
Affiliation
  • Oussalah A; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, 9 Avenue de la Forêt de Haye, 54000, Nancy, France.
  • Siblini Y; Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, 54000, Nancy, France.
  • Hergalant S; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology and Nutrition, University Hospital of Nancy, 54000, Nancy, France.
  • Chéry C; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, 9 Avenue de la Forêt de Haye, 54000, Nancy, France.
  • Rouyer P; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, 9 Avenue de la Forêt de Haye, 54000, Nancy, France.
  • Cavicchi C; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, 9 Avenue de la Forêt de Haye, 54000, Nancy, France.
  • Guerrini R; Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, 54000, Nancy, France.
  • Morange PE; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology and Nutrition, University Hospital of Nancy, 54000, Nancy, France.
  • Trégouët D; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, 9 Avenue de la Forêt de Haye, 54000, Nancy, France.
  • Pupavac M; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Viale Pieraccini 24, 50139, Florence, Italy.
  • Watkins D; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Viale Pieraccini 24, 50139, Florence, Italy.
  • Pastinen T; Department of NEUROFARBA, University of Florence, Florence, Italy.
  • Chung WK; INSERM UMR_S 1263, Center for CardioVascular and Nutrition Research (C2VN), Aix-Marseille University, 13385, Marseille, France.
  • Ficicioglu C; INSERM, BPH, U1219, Université Bordeaux, 33000, Bordeaux, France.
  • Feillet F; Department of Human Genetics, McGill University and Research Institute, McGill University Health Centre, Montreal, QC, H4A 3J1, Canada.
  • Froese DS; Department of Human Genetics, McGill University and Research Institute, McGill University Health Centre, Montreal, QC, H4A 3J1, Canada.
  • Baumgartner MR; Department of Human Genetics, McGill University and Research Institute, McGill University Health Centre, Montreal, QC, H4A 3J1, Canada.
  • Benoist JF; Departments of Pediatrics and Medicine, Columbia University, New York, USA.
  • Majewski J; Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Morrone A; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, 9 Avenue de la Forêt de Haye, 54000, Nancy, France.
  • Rosenblatt DS; Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, 54000, Nancy, France.
  • Guéant JL; Division of Metabolism, University Children's Hospital, University of Zürich, Zürich, Switzerland.
Clin Epigenetics ; 14(1): 52, 2022 04 19.
Article in En | MEDLINE | ID: mdl-35440018
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vitamin B 12 / Homocystinuria Limits: Humans / Male Language: En Journal: Clin Epigenetics Year: 2022 Type: Article Affiliation country: France
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vitamin B 12 / Homocystinuria Limits: Humans / Male Language: En Journal: Clin Epigenetics Year: 2022 Type: Article Affiliation country: France