The NeuroDev team publishes an article in Life Science Alliance [1] identifying the first human pathogenic variant of GORASP1, the gene encoding the Golgi stacking protein GRASP65, and demonstrating its consequences on glycosylation and mitotic progression.
[1] S. Lebon, A. Bruneel, S. Drunat, A. Albert, Z. Csaba, M. Elmaleh, A. Ntorkou, Y.Ténier, F. Fenaille, P. Gressens, S. Passemard, O. Boespflug-Tanguy, I. Dorboz, V. El Ghouzzi
A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects
https://doi.org/10.26508/lsa.202403065