FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.

Autor: Montealegre S; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Lebigot E; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Debruge H; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Romero N; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Héron B; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Gaignard P; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Legendre A; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Imbard A; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Gobin S; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Lacène E; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Nusbaum P; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Hubas A; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Desguerre I; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Servais A; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Laforêt P; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., van Endert P; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Authier FJ; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., Gitiaux C; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France., de Lonlay P; Inserm U1151 (S.M., H.D., P.E., P.d.L.), Institut Necker Enfants-Malades, Paris; Reference Center of Inherited Metabolic Diseases (S.M., A.I., A.S., P.d.L.), Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Paris University, Filière G2M; Biochemistry Laboratory (E. Lebigot, P.G.), Filière G2M, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre; Sorbonne Universié (E. Lacène), UPMC, INSERM UMR974, Center for Research in Myology, Neuromuscular Morphology Unit, Myology Institute, AP-HP, East-Paris Reference Center of Neuromuscular Diseases, GHU Pitié-Salpêtrière; Neurology Unit (N.R., B.H.), Trousseau Hospital, APHP, Filière G2M; M3C-Necker (A.L.), Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants Malades; Biochemistry Department (A.I.), Necker-Enfants-Malades University Hospital, APHP, Paris University; Genetics Department (S.G.), Necker-Enfants-Malades University Hospital, APHP; Genetics and Molecular Biology (P.N., A.H.), Laboratoire de Culture Cellulaire, Hôpital Cochin, Paris; Reference Center of Neuromuscular Diseases (I.D., C.G.), Necker-Enfants-Malades University Hospital, APHP, Filière Filnemus; Adult Nephrology & Transplantation (A.S.), Necker-Enfants-Malades University Hospital, APHP, Inserm U1163, Imagine Institute, Paris Descartes University; Department of Neurology (P.L.), Raymond-Poincaré Hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux; and Reference Center for Neuromuscular Disorders (F.J.A., C.G.), Department de Pathologie, Henri Mondor Hospital, APHP, IMRB U955, Faculty of Medicine, Creteil, France.

Publikováno v: Neurology. Genetics [Neurol Genet] 2022 Jan 19; Vol. 8 (1), pp. e648. Date of Electronic Publication: 2022 Jan 19 (Print Publication: 2022).

Clinical, biochemical and molecular characterization of a new case with FDX2‐related mitochondrial disorder: Potential biomarkers and treatment options.

Autor: Wongkittichote, Parith, Pantano, Cassandra, He, Miao, Hong, Xinying, Demczko, Matthew M.

Publikováno v: Journal of Inherited Metabolic Disease Reports; Mar2024, Vol. 65 Issue 2, p102-109, 8p

Orchestrating vesicular and nonvesicular membrane dynamics by intrinsically disordered proteins.

Autor: Sigrist, Stephan J, Haucke, Volker

Publikováno v: EMBO Reports; 11/6/2023, Vol. 24 Issue 11, p1-18, 18p

Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases.

Autor: de Calbiac H; INSERM U1151, Institut Necker Enfants-Malades (INEM), Université Paris Cité, Paris, France., Imbard A; Service de Biochimie, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Faculté de pharmacie, LYPSIS, Université Paris Saclay, Orsay, France.; Reference Center for Inherited Metabolic Diseases, Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Filière G2M, MetabERN, Paris, France., de Lonlay P; INSERM U1151, Institut Necker Enfants-Malades (INEM), Université Paris Cité, Paris, France.; Reference Center for Inherited Metabolic Diseases, Necker-Enfants-Malades University Hospital, APHP, Imagine Institute, Filière G2M, MetabERN, Paris, France.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Aug 12. Date of Electronic Publication: 2024 Aug 12.

Intratumor microbiome derived glycolysis-lactate signatures depicts immune heterogeneity in lung adenocarcinoma by integration of microbiomic, transcriptomic, proteomic and single-cell data.

Autor: Xiaheng Deng, Xiru Chen, Yu Luo, Jun Que, Liang Chen

Publikováno v: Frontiers in Microbiology; 2023, p1-17, 17p