Benoit Roch, Vincent Abramowski ... Jean-Pierre de Villartay
A viable separation of function XRCC4 knock-in mutant mouse model recapitulates some aspects of XRCC4 deficiency in humans, notably the absence of immune deficiency.
Mutations affecting a nuclear encoded metalloprotease cause of a new form of mitochondriopathy, highlighting the importance of this protease for mitochondrial function in humans.
Epilepsy caused by focal Pten deletion is only prevented when both mTOR complexes are simultaneously inhibited, but not alone, suggesting they play independent roles in the development of epilepsy.
Disruption of epoxide hydrolysis inducing oxidative stress and cellular senescence is a novel mechanism responsible for lipoatrophic monogenic diabetes.
A global map of environmental suitability for Zika virus and the estimated population living at potential risk can help refine public health guidelines, travel advisories and intervention strategies at a crucial time in the global emergence of this arbovirus.
A model of in vitro human corticogenesis identifies alterations in gene expression caused by loss of 16p11.2 CNV genes in hiPSC-derived progenitor cells.
A comprehensive platform is established for the evaluation of both current and future individuals afflicted with the UBA5-associated developmental and epileptic encephalopathy.
