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

Edgard VerduraBruno SengerMiquel Raspall-ChaureAgatha SchlüterNathalie LaunayMontserrat RuizCarlos CasasnovasAgustí Rodriguez-PalmeroAlfons MacayaHubert Dominique BeckerAurora Pujol

Published in: Journal of medical genetics (2022)

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.

Keyphrases

dna damage
endothelial cells
stress induced
mitochondrial dna
cerebral palsy
transcription factor
upper limb
oxidative stress
copy number
genome wide