Mutations in nucleoporin NUP88 cause lethal neuromuscular disorder
E. Bonnin, P. Cabochette, A. Filosa, R. Juehlen, S. Komatsuzaki, M. Hezwani, A. Dickmanns, V. Martinelli, M. Vermeersch, L. Supply, N. Martins, L. Pirenne, G. Ravenscroft, M. Lombard, S. A. Port, , B. Fahrenkrog
This study identifies biallelic NUP88 mutations as a cause of lethal fetal akinesia deformation sequence (FADS) and shows their effects on neuromuscular development in zebrafish and human cells.
bioRxiv · Aug 14, 2018Cell Biology