Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle.

Autor: Morin A; Evolution of Neuromuscular Diseases - Innovative Concepts and Practice (END-ICAP) U1179, Université Paris-Saclay, Université de Versailles Saint-Quentin-en-Yvelines, Inserm, 78000 Versailles, France., Stantzou A; Evolution of Neuromuscular Diseases - Innovative Concepts and Practice (END-ICAP) U1179, Université Paris-Saclay, Université de Versailles Saint-Quentin-en-Yvelines, Inserm, 78000 Versailles, France., Petrova ON; Evolution of Neuromuscular Diseases - Innovative Concepts and Practice (END-ICAP) U1179, Université Paris-Saclay, Université de Versailles Saint-Quentin-en-Yvelines, Inserm, 78000 Versailles, France., Hildyard J; Department of Clinical Science and Services, Comparative Neuromuscular Diseases Laboratory, Royal Veterinary College, London NW1 0TU, United Kingdom., Tensorer T; SQY Therapeutics, 78180 Montigny-le-Bretonneux, France., Matouk M; Evolution of Neuromuscular Diseases - Innovative Concepts and Practice (END-ICAP) U1179, Université Paris-Saclay, Université de Versailles Saint-Quentin-en-Yvelines, Inserm, 78000 Versailles, France., Petkova MV; NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, 10117 Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, 10117 Berlin, Germany.; Berlin Institute of Health, 10117 Berlin, Germany., Richard I; Généthon, Integrare Unité Mixte de Recherche (UMR)_S951, Université Evry, Université Paris-Saclay, Inserm, 91002 Evry, France., Manoliu T; Plate-forme Imagerie et Cytométrie, Unité Mixte de Service Analyse Moléculaire, Modélisation et Imagerie de la Maladie Cancéreuse (UMS AMMICa), Gustave Roussy Cancer Campus, Université Paris-Saclay, 94805 Villejuif, France., Goyenvalle A; Evolution of Neuromuscular Diseases - Innovative Concepts and Practice (END-ICAP) U1179, Université Paris-Saclay, Université de Versailles Saint-Quentin-en-Yvelines, Inserm, 78000 Versailles, France.; Laboratoire International Associé dédié aux Biothérapies Appliquées aux Handicaps Neuromusculaires (LIA BAHN), Centre scientifique de Monaco, 98000 Monaco., Falcone S; UM76, INSERM U974, Centre de Recherche en Myologie, Institut de Myologie, Sorbonne Université, 75013 Paris, France., Schuelke M; NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, 10117 Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, 10117 Berlin, Germany.; Berlin Institute of Health, 10117 Berlin, Germany., Laplace-Builhé C; Plate-forme Imagerie et Cytométrie, Unité Mixte de Service Analyse Moléculaire, Modélisation et Imagerie de la Maladie Cancéreuse (UMS AMMICa), Gustave Roussy Cancer Campus, Université Paris-Saclay, 94805 Villejuif, France., Piercy RJ; Department of Clinical Science and Services, Comparative Neuromuscular Diseases Laboratory, Royal Veterinary College, London NW1 0TU, United Kingdom., Garcia L; Evolution of Neuromuscular Diseases - Innovative Concepts and Practice (END-ICAP) U1179, Université Paris-Saclay, Université de Versailles Saint-Quentin-en-Yvelines, Inserm, 78000 Versailles, France.; Laboratoire International Associé dédié aux Biothérapies Appliquées aux Handicaps Neuromusculaires (LIA BAHN), Centre scientifique de Monaco, 98000 Monaco., Amthor H; Evolution of Neuromuscular Diseases - Innovative Concepts and Practice (END-ICAP) U1179, Université Paris-Saclay, Université de Versailles Saint-Quentin-en-Yvelines, Inserm, 78000 Versailles, France.; Laboratoire International Associé dédié aux Biothérapies Appliquées aux Handicaps Neuromusculaires (LIA BAHN), Centre scientifique de Monaco, 98000 Monaco.; Centre de Références des Maladies Neuromusculaires, Service de Pédiatrie, Université Paris-Saclay, APHP,Raymond Poincaré Hospital, 92380 Garches, France.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2023 Jan 10; Vol. 120 (2), pp. e2206324120. Date of Electronic Publication: 2023 Jan 03.

Ectopic expression of transcription factor BATF3 induces B-cell lymphomas in a murine B-cell transplantation model.

Autor: Weiser C; Dr. Senckenberg Institute of Pathology, Goethe-University of Frankfurt, Medical School, Frankfurt am Main, Germany., Petkova MV; Experimental and Clinical Research Center (ECRC), Medical Faculty of the Charité and Max Delbrück Center for Molecular Medicine, Berlin, Germany., Rengstl B; Dr. Senckenberg Institute of Pathology, Goethe-University of Frankfurt, Medical School, Frankfurt am Main, Germany., Döring C; Dr. Senckenberg Institute of Pathology, Goethe-University of Frankfurt, Medical School, Frankfurt am Main, Germany., von Laer D; Division of Virology, Department of Hygiene, Microbiology, Social Medicine Medical University IBK, Innsbruck, Austria., Hartmann S; Dr. Senckenberg Institute of Pathology, Goethe-University of Frankfurt, Medical School, Frankfurt am Main, Germany., Küppers R; Institute of Cell Biology (Cancer Research), University of Duisburg-Essen, Medical School, Essen, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany., Hansmann ML; Dr. Senckenberg Institute of Pathology, Goethe-University of Frankfurt, Medical School, Frankfurt am Main, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany., Newrzela S; Dr. Senckenberg Institute of Pathology, Goethe-University of Frankfurt, Medical School, Frankfurt am Main, Germany.

Publikováno v: Oncotarget [Oncotarget] 2018 Mar 23; Vol. 9 (22), pp. 15942-15951. Date of Electronic Publication: 2018 Mar 23 (Print Publication: 2018).

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.

Autor: von Renesse A; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany., Petkova MV, Lützkendorf S, Heinemeyer J, Gill E, Hübner C, von Moers A, Stenzel W, Schuelke M

Publikováno v: Journal of medical genetics [J Med Genet] 2014 Apr; Vol. 51 (4), pp. 275-82. Date of Electronic Publication: 2014 Feb 20.