HuD regulates apoptosis in N2a cells by regulating Msi2 expression.

Autor: Gaikwad, Naina^1,2 (AUTHOR), Sarwade, Rucha^1,2 (AUTHOR), Halder, Sourav^1,2 (AUTHOR), Agarwal, Gaurav^1,2 (AUTHOR), Seshadri, Vasudevan¹ (AUTHOR) seshadriv@nccs.res.in

Publikováno v: PLoS ONE. 12/16/2024, Vol. 19 Issue 12, p1-17. 17p.

Combinatorial therapeutic activation with heparin and AICAR stimulates additive effects on utrophin A expression in dystrophic muscles.

Autor: Péladeau C; Department of Cellular and Molecular Medicine and Centre for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Ahmed A; Department of Cellular and Molecular Medicine and Centre for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Amirouche A; Department of Cellular and Molecular Medicine and Centre for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Crawford Parks TE; Department of Cellular and Molecular Medicine and Centre for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Bronicki LM; Department of Cellular and Molecular Medicine and Centre for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Ljubicic V; Department of Cellular and Molecular Medicine and Centre for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Renaud JM; Department of Cellular and Molecular Medicine and Centre for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Jasmin BJ; Department of Cellular and Molecular Medicine and Centre for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada jasmin@uottawa.ca.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2016 Jan 01; Vol. 25 (1), pp. 24-43. Date of Electronic Publication: 2015 Oct 22.

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

Autor: Bronicki LM; Greenwood Genetic Center, Greenwood, SC, USA., Redin C; Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104, INSERM U964, Strasbourg University, Strasbourg, France., Drunat S; Department of Genetics and INSERM U1141, Robert Debré Hospital, Paris, France., Piton A; Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104, INSERM U964, Strasbourg University, Strasbourg, France.; Laboratoire de diagnostic génétique, Faculty of Medicine and CHU Strasbourg, Strasbourg, France., Lyons M; Greenwood Genetic Center, Greenwood, SC, USA., Passemard S; Department of Genetics and INSERM U1141, Robert Debré Hospital, Paris, France., Baumann C; Department of Genetics, Robert Debré Hospital, Paris, France., Faivre L; Fédération Hospitalo- Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Thevenon J; Fédération Hospitalo- Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Rivière JB; Fédération Hospitalo- Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, Dijon, France., Isidor B; Medical Genetics- Clinical Genetics Unit, CHU de Nantes, Nantes-Cedex, France., Gan G; Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104, INSERM U964, Strasbourg University, Strasbourg, France., Francannet C; Service de génétique médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Willems M; Department of Medical Genetics, Reference Center for Rare Diseases, Developmental Disorders and Multiple Congenital Anomalies, Arnaud de Villeneuve Hospital, Montpellier, France., Gunel M; Department of Genetics and Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Jones JR; Greenwood Genetic Center, Greenwood, SC, USA., Gleeson JG; Department of Neurosciences, Howard Hughes Medical Institute, Rady Children's Hospital, University of California, San Diego, La Jolla, CA, USA., Mandel JL; Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104, INSERM U964, Strasbourg University, Strasbourg, France.; Laboratoire de diagnostic génétique, Faculty of Medicine and CHU Strasbourg, Strasbourg, France., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA., Friez MJ; Greenwood Genetic Center, Greenwood, SC, USA., Aylsworth AS; Departments of Pediatrics and Genetics, Division of Genetics and Metabolism, University of North Carolina, Chapel Hill, NC, USA.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Nov; Vol. 23 (11), pp. 1482-7. Date of Electronic Publication: 2015 Apr 29.

HuD impairs neuromuscular junctions and induces apoptosis in human iPSC and Drosophila ALS models.

Autor: Silvestri, Beatrice, Mochi, Michela, Mawrie, Darilang, de Turris, Valeria, Colantoni, Alessio, Borhy, Beatrice, Medici, Margherita, Anderson, Eric Nathaniel, Garone, Maria Giovanna, Zammerilla, Christopher Patrick, Simula, Marco, Ballarino, Monica, Pandey, Udai Bhan, Rosa, Alessandro

Publikováno v: Nature Communications; 11/7/2024, Vol. 15 Issue 1, p1-17, 17p

Characterization of multiple exon 1 variants in mammalian HuD mRNA and neuron-specific transcriptional control via neurogenin 2.

Autor: Bronicki LM; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada., Bélanger G, Jasmin BJ

Publikováno v: The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2012 Aug 15; Vol. 32 (33), pp. 11164-75.