A Postzygotic De Novo NCDN Mutation Identified in a Sporadic FTLD Patient Results in Neurochondrin Haploinsufficiency and Altered FUS Granule Dynamics

Nicolas Gaël,Sévigny Myriam,Lecoquierre François,Marguet Florent,Deschênes Andréanne,del Pelaez Maria Carment,Feuillette Sébastien, Audebrand Anaïs,Lecourtois Magalie,Rousseau Stéphane,Richard Anne-Claire,Cassinari Kévin,Deramecourt Vincent, AP-HP, Hôpital de la Pitié-Salpêtrière,Boland Anne,Deleuze Jean-François,Meyer Vincent, Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Medical University of Vienna,Akiyama Haruhiko,Hasegawa Masato,Kawakami Ito,Wong Tsz H.,Van Rooij Jeroen G. J.,Van Swieten John C.,Campion Dominique,Dutchak Paul A.,Wallon David,Lavoie-Cardinal Flavie,Laquerrière Annie,Rovelet-Lecrux Anne,Sephton Chantelle F.

Acta Neuropathologica Communications（2022）

Cited 4|Views58

Key words

FUS (fused in sarcoma),Frontotemporal dementia (FTD),NCDN (neurochondrin),Norbin,Genetic variant,De novo mutation,FTLD-FET,Neurodegeneration,mGluR1/5,Cytoplasmic granules

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