Additional file 1 of A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics

Autor: Nicolas, Ga��l, S��vigny, Myriam, Lecoquierre, Fran��ois, Marguet, Florent, Desch��nes, Andr��anne, del Pelaez, Maria Carment, Feuillette, S��bastien, Audebrand, Ana��s, Lecourtois, Magalie, Rousseau, St��phane, Richard, Anne-Claire, Cassinari, K��vin, Deramecourt, Vincent, Duyckaerts, Charles, Boland, Anne, Deleuze, Jean-Fran��ois, Meyer, Vincent, Clarimon Echavarria, Jordi, Gelpi, Ellen, 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, Laquerri��re, Annie, Rovelet-Lecrux, Anne, Sephton, Chantelle F.
Rok vydání: 2022
DOI: 10.6084/m9.figshare.19166677.v1
Popis: Additional File 1: Supplementary tables and figures: Table S1. Exome sequencing data or DNA samples from multiple international cases with FTLD-FET. Fig. S1. Validation of secondary antibody specificity for immunocytochemistry studies. Fig. S2. Immunocytochemistry validation of NCDN knock-down in neurons. Fig. S3. Knock-down of FUS in N2a affects NCDN protein and mRNA levels. Fig. S4. Model for NCDN haploinsufficiency and FTD-FET. Supplementary References. Citations for Table S1.
Databáze: OpenAIRE