NCDN-FUS
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in Neurochondrin haploinsufficiency and altered FUS granule dynamics.
Gaël Nicolas, Myriam Sévigny, François Lecoquierre, Florent Marguet, Andréanne Deschênes, Maria del Carmen Pelaez, Sébastien Feuillette, Anaïs Audebrand, Magalie Lecourtois, Stéphane Rousseau, Anne-Claire Richard, Kévin Cassinari, Vincent Deramecourt, Charles Duyckaerts, Anne Boland, Jean-François Deleuze, Vincent Meyer, Jordi Clarimon Echavarria, Ellen Gelpi, Haruhiko Akiyama, Masato Hasegawa, Ito Kawakami, Tsz H Wong, Jeroen GJ Van Rooij, John C Van Swieten, Dominique Campion, Paul A. Dutchak, David Wallon, Flavie Lavoie-Cardinal, Annie Laquerrière, Anne Rovelet-Lecrux, Chantelle F Sephton
Overview
This website contains links to the confocal image datasets and code produced to perform quantitative image analysis of NCDN and FUS. The code for segmentation of the FUS granules is based on
The Allen Cell & Structure Segmenter.
Source Code
The source code is publicly available on GitHub.
Paper
Nicolas, G., Sévigny, M., Lecoquierre, M., Marguet,F., Deschênes,A., Del Carmen Pelaez, M., Feuillette,S., Audebrand,A., Lecourtois,M., Rousseau,S., Richard,A., Cassinari,K., Deramecourt,V., Duyckaerts,C., Boland,A., Deleuze,J., Meyer,V., Clarimon Echavarria,J., Gelpi,E., Akiyama,H., Hasegawa,M., Kawakami,I., H.Wong,T., Van Rooij,J., Van Swieten,J., Campion,D., Dutchak,P., Wallon,D., Lavoie-Cardinal,F., Laquerrière,A., Rovelet-Lecrux,A., Sephton, C.
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in Neurochondrin haploinsufficiency and altered FUS granule dynamics. Acta Neuropathologica Communications. (2022).
The paper is available here.
Datasets
We provide the download links to the datasets used in the paper below.