Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence

Conclusion
We refine the phenotypic spectrum and modes of inheritance of a newly described, ultrarare neurodevelopmental disorder, while unveiling the role of SARS1 as a regulator of cell growth, division and senescence.

Source: Journal of Medical Genetics - November 22, 2022 Category: Genetics & Stem Cells Authors: Verdura, E., Senger, B., Raspall-Chaure, M., Schlüter, A., Launay, N., Ruiz, M., Casasnovas, C., Rodriguez-Palmero, A., Macaya, A., Becker, H. D., Pujol, A. Tags: Open access Neurogenetics Source Type: research