Article
A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Nov 2022
Ammar Marwa, Safi Wajdi, Tlili Abdelaziz, Alila-Fersi Olfa, Frikha Fakher, Chouchen Jihen, Mnif Fatma, Kharrat Marwa, Maalej Marwa, Felhi Rahma, Abid Mohamed, Mnif-Feki Mouna, Kacem Faten Hadj, Fakhfakh Faiza, Mkaouar-Rebai Emna
Abstract excerpt
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE; OMIM 603041) is a rare inherited metabolic disorder mostly caused by mutations in TYMP gene encoding thymidine phosphorylase (TP) protein that affects the mitochondrial nucleotide metabolism. TP, functionally active as a homodimer, is involved in the salvage pathway of pyrimidine nucleosides. MNGIE-like syndrome having an overlapping phenotype of MNGIE...
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