Pierre Billuart
Responsable de l'équipe, Génétique, physiopathologie et approches thérapeutiques des maladies mentales
Institution:
USPC - SET - SVS
Summary
Published articles Show More
Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability
Published in Neurobiology of Disease
Oligophrenin-1 (OPHN1) is a Rho GTPase activating protein whose mutations cause X-linked intellectual disability (XLID). How loss of function of Ophn1 affects neuronal development is only partly understood. Here we have exploited adult hippocampal neurogenesis to dissect the steps of neuronal differentiation that are affected by Ophn1 deletion. We ...
Loss of Function of KCNC1 is associated with intellectual disability without seizures
Published in European Journal of Human Genetics
p.(Arg320His) mutation in the KCNC1 gene in human 11p15.1 has recently been identified in patients with progressive myoclonus epilepsies, a group of rare inherited disorders manifesting with action myoclonus, myoclonic epilepsy, and ataxia. This KCNC1 variant causes a dominant-negative effect. Here we describe three patients from the same family wi...
Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model ...
...
Published in Human Molecular Genetics
Loss of function mutations in human Oligophrenin1 (OPHN1) gene are responsible for syndromic intellectual disability (ID) associated with cerebellar hypoplasia and cerebral ventricles enlargement. Functional studies in rodent models suggest that OPHN1 linked ID is a consequence of abnormal synaptic transmission and shares common pathophysiological ...
Theses Show More
Mécanismes physiopathologiques du déficit cognitif associé aux mutations du gène IL-1 receptor accesory protein like-1
Les mutations du gène IL1-Receptor Accessory Protein Like 1 (IL1RAPL1) sont associées à un déficit cognitif isolé ou associé à l’autisme. Cette protéine transmembranaire appartient à une nouvelle famille de récepteurs à l’IL-1. Sa structure est similaire à celles de ces récepteurs mais elle possède en plus un domaine cytoplasmique spécifique à son ...
Experience
Responsable de l'équipe Since 2014
université Paris Descartes
Génétique, physiopathologie et approches thérapeutiques des maladies mentales; Développement, Reproduction, Cancer (DRC); UMR 8104 / UMR_S1016, Institut Cochin; Faculté de Médecine
