FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

• Published in: Molecular genetics and metabolism Vol. 125; no. 3; pp. 281 - 291
• Main Authors: Almannai, Mohammed, Wang, Julia, Dai, Hongzheng, El-Hattab, Ayman W., Faqeih, Eissa A., Saleh, Mohammed A., Al Asmari, Ali, Alwadei, Ali H., Aljadhai, Yaser I., AlHashem, Amal, Tabarki, Brahim, Lines, Matthew A., Grange, Dorothy K., Benini, Ruba, Alsaman, Abdulaziz S., Mahmoud, Adel, Katsonis, Panagiotis, Lichtarge, Olivier, Wong, Lee-Jun C.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.11.2018
• Subjects: Epileptic encephalopathy; FARS2; Mitochondria; Mitochondrial aminoacyl-tRNA synthetase; Spastic paraplegia; Epileptic encephalopathy; Mitochondria; Spastic paraplegia; Mitochondrial aminoacyl-tRNA synthetase; FARS2

An increasing number of mitochondrial diseases are found to be caused by pathogenic variants in nuclear encoded mitochondrial aminoacyl-tRNA synthetases. FARS2 encodes mitochondrial phenylalanyl-tRNA synthetase (mtPheRS) which transfers phenylalanine to its cognate tRNA in mitochondria. Since the fi...