LOSS OF SERYL tRNA SYNTHETASE (SARS1) CAUSES COMPLEX SPASTIC PARAPLEGIA AND CELLULAR SENESCENCE

Edgard Verdura,Bruno Senger,Miquel Raspall,Agatha Schluter,Nathalie Launay,Montserrat Ruiz,Carlos Casasnovas,Agusti Rodriguez-Palmero,Alfonso Macaya Ruiz,Hubert Becker,Aurora Pujol

Journal of medical genetics（2023）

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摘要

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.

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关键词

genetic research,nervous system diseases,neurology,pediatrics,sequence analysis, RNA

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