Aline Dubos, Hamid Meziane, Giovanni Iacono, Aurore Curie, Fabrice Riet, Christelle Martin, Nadège Loaëc, Marie-Christine Birling, Mohammed Selloum, Elisabeth Normand, Guillaume Pavlovic, Tania Sorg, Henk G Stunnenberg, Jamel Chelly, Yann Humeau, Gaëlle Friocourt, Yann Hérault
The Aristaless-related homeobox (ARX) transcription factor is involved in the development of GABAergic and cholinergic neurons in the forebrain. ARX mutations have been associated with a wide spectrum of neurodevelopmental disorders in humans, among which the most frequent, a 24bp duplication in the polyalanine tract 2 (c.428_451dup24), gives rise to intellectual disability, fine motor defects with or without epilepsy. To understand the functional consequences of this mutation, we generated a partially humanized mouse model carrying the c...
April 5, 2018: Human Molecular Genetics