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Depdc5 knockout rat: A novel model of mTORopathy

Marsan, Elise Ishida, Saeko Schramm, Adrien Weckhuysen, Sarah Muraca, Giuseppe Lecas, Sarah Liang, Ning Treins, Caroline Mario Pende Roussel, Delphine ...

Published in Neurobiology of Disease

DEP-domain containing 5 (DEPDC5), encoding a repressor of the mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway, has recently emerged as a major gene mutated in familial focal epilepsies and focal cortical dysplasia. Here we established a global knockout rat using TALEN technology to investigate in vivo the impact of Depdc5-defic...

Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability

Allegra, Manuela Spalletti, Cristina Vignoli, Beatrice Azzimondi, Stefano Busti, Irene Pierre Billuart Canossa, Marco Caleo, Matteo

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 ...

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Depdc5 knockout rat: A novel model of mTORopathy

Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability