ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans.

Autor: Luo H; Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada. hongyu.luo@umontreal.ca., Lao L; Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada., Au KS; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA., Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA., He X; Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada., Forget D; Department of Translational Proteomics, Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada., Gauthier MS; Department of Translational Proteomics, Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada., Coulombe B; Department of Translational Proteomics, Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada.; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montreal, QC, Canada., Bourdeau I; Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada.; Division of Endocrinology, CHUM, Montreal, QC, Canada.; Department of Medicine, Université de Montréal, Montreal, QC, Canada., Shi W; Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada., Gagliardi L; Adelaide Medical School, University of Adelaide, Adelaide, Australia.; Endocrine and Metabolic Unit, Royal Adelaide Hospital, Adelaide, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.; Endocrine and Diabetes Unit, Queen Elizabeth Hospital, Adelaide, Australia., Fragoso MCBV; Unidade de Suprarrenal Disciplina de Endocrinologia E Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Peng J; Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada., Wu J; Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada. jianping.wu@umontreal.ca.; Department of Medicine, Université de Montréal, Montreal, QC, Canada. jianping.wu@umontreal.ca.; Division of Nephrology, CHUM, Montreal, QC, Canada. jianping.wu@umontreal.ca.

Publikováno v: Genome biology [Genome Biol] 2024 Jan 15; Vol. 25 (1), pp. 19. Date of Electronic Publication: 2024 Jan 15.

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.

Autor: Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Apr 07; Vol. 109 (4), pp. 759-763.

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.

Autor: Ghaleb Y; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon., Elbitar S; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon., Philippi A; Institut Cochin, Bâtiment Faculté Inserm U1016, Cnrs UMR8104, Université de Paris Faculté de Médecine, F-75014 Paris, France., El Khoury P; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon., Azar Y; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France., Andrianirina M; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France., Loste A; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France., Abou-Khalil Y; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France., Nicolas G; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France.; INSERM U1149, CNRS ERL 8252, Centre de Recherche sur l'Inflammation, F-75018 Paris, France., Le Borgne M; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France., Moulin P; Department of Endocrinology, Nutrition and Metabolic Diseases, Hospices Civils de Lyon, Louis Pradel Cardiovascular Hospital, F-69500 Bron, France.; CarMen Laboratory, INSERM U1060, INRAE U1397, Université Lyon 1, F-69921 Oullins, France., Di-Filippo M; CarMen Laboratory, INSERM U1060, INRAE U1397, Université Lyon 1, F-69921 Oullins, France.; Hospices Civils de Lyon, Department of Biochemistry and Molecular Biology, F-69500 Bron, France., Charrière S; Department of Endocrinology, Nutrition and Metabolic Diseases, Hospices Civils de Lyon, Louis Pradel Cardiovascular Hospital, F-69500 Bron, France.; CarMen Laboratory, INSERM U1060, INRAE U1397, Université Lyon 1, F-69921 Oullins, France., Farnier M; EA 7460 Physiopathologie et Epidémiologie Cérébro-Cardiovasculaires (PEC2), Université de Bourgogne-Franche Comté, F-21078 Dijon, France., Yelnick C; Département de Médecine Interne et Immunologie Clinique Centre de Référence des Maladies Auto-Immunes Systémiques Rares du Nord et Nord-Ouest de France (CeRAINO) CHU de Lille, F-59037 Lille, France.; U1167 Risk Factors and Molecular Determinants of Aging-Related Diseases, Inserm CHU de Lille, Lille University, F-59000 Lille, France., Carreau V; Department of Endocrinology and Prevention of Cardiovascular Disease, Institute of Cardio Metabolism and Nutrition (ICAN), La Pitié-Salpêtrière Hospital, AP-HP, F-75005 Paris, France., Ferrières J; Department of Cardiology, Toulouse Rangueil University Hospital, UMR 1295 INSERM, F-31400 Toulouse, France., Lecerf JM; Nutrition Department, Institut Pasteur de Lille, CEDEX, F-59019 Lille, France., Derksen A; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H3A 0G4, Canada.; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 0G4, Canada., Bernard G; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H3A 0G4, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 0G4, Canada.; Department of Pediatrics, McGill University, Montréal, QC H3A 0G4, Canada.; Department of Human Genetics, McGill University, Montréal, QC H3A 0G4, Canada.; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montréal, QC H4A 3J1, Canada., Gauthier MS; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada., Coulombe B; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montréal, QC H3T 1J4, Canada., Lütjohann D; Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, F-53127 Bonn, Germany., Fin B; CEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France., Boland A; CEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France., Olaso R; CEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France., Deleuze JF; CEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France.; Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset, F-75019 Paris, France., Rabès JP; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Department of Biochemistry and Molecular Genetics, Ambroise Paré University Hospital (APHP), Université Paris-Saclay, F-92104 Boulogne-Billancourt, France.; UFR (Unite de Formation et de Recherche) Simone Veil-Santé, Versailles-Saint-Quentin-en-Yvelines University, F-78180 Montigny-le-Bretonneux, France., Boileau C; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France.; Genetic Department, AP-HP, Hôpital Bichat, F-75018 Paris, France., Abifadel M; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon., Varret M; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France.

Publikováno v: Metabolites [Metabolites] 2022 Mar 18; Vol. 12 (3). Date of Electronic Publication: 2022 Mar 18.

Discovery of Antivirals Using Phage Display.

Autor: Sokullu E; Department of Translational Proteomics, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montréal, QC H3C 3J7, Canada., Gauthier MS; Department of Translational Proteomics, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada., Coulombe B; Department of Translational Proteomics, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montréal, QC H3C 3J7, Canada.

Publikováno v: Viruses [Viruses] 2021 Jun 10; Vol. 13 (6). Date of Electronic Publication: 2021 Jun 10.

Effects of Aerobic Exercise on Leukocyte-Mediated Liver Destruction in a Rat Model of Metabolic Syndrome.

Autor: Er, Fatmanur¹ fatmanur.er@atauni.edu.tr, Çimen, Leyla², Suveren, Ceren³, Yılmaz, Canan⁴, Türközkan, Nurten¹

Publikováno v: Gazi Medical Journal. 2024, Vol. 35 Issue 4, p401-406. 6p.