Impact of pathogenic mutations on the refolding ability and stability of human mitochondrial Phenylalanyl-tRNA synthetase.

doi:10.1016/j.abb.2025.110430

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Article

Impact of pathogenic mutations on the refolding ability and stability of human mitochondrial Phenylalanyl-tRNA synthetase.

Archives of biochemistry and biophysics - 1 Jul 2025

Roy Debraj, Verma Shubhangini Singh, Chakraborty Shruti, Dey Debkanya, Tudu Surajit, Manna Riya, Chaudhary Nitin, Banerjee Rajat

Abstract excerpt

Human mitochondrial phenylalanyl-tRNA synthetase (hmtPheRS) requires partial unfolding for mitochondrial import and subsequent refolding to maintain proper functionality. Mutations in the FARS2 gene, encoding hmtPheRS, cause disorders such as early-onset epileptic encephalopathy and spastic paraplegia. This study was intended to investigate the impact of mutations on hmtPheRS refolding ability, stability, and...

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PMID: 40254257
DOI: 10.1016/j.abb.2025.110430

Genes

FARS2

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