Article
A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects.
Life science alliance - 1 Apr 2025
Lebon Sophie, Bruneel Arnaud, Drunat Séverine, Albert Alexandra, Csaba Zsolt, Elmaleh Monique, Ntorkou Alexandra, Ténier Yann, Fenaille François, Gressens Pierre, Passemard Sandrine, Boespflug-Tanguy Odile, Dorboz Imen, El Ghouzzi Vincent
Abstract excerpt
GRASP65 is a Golgi-associated peripheral protein encoded by the GORASP1 gene and required for Golgi cisternal stacking in vitro. A key role of GRASP65 in the regulation of cell division has also been suggested. However, depletion of GRASP65 in mice has little effect on the Golgi structure and the gene has not been associated with any human phenotype to date. Here, we report the identification of the first human...
Topics
- Humans
- Glycosylation
- Golgi Apparatus
- Golgi Matrix Proteins
- Mitosis
- Male
- Female
- Mutation
- Alleles
- Phenotype
- CRISPR-Cas Systems
- Membrane Proteins