Article
Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes.
BMC medicine - 28 Mar 2022
Gautheron Jérémie, Lima Lara, Akinci Baris, Zammouri Jamila, Auclair Martine, Ucar Sema Kalkan, Ozen Samim, Altay Canan, Bax Bridget E, Nemazanyy Ivan, Lenoir Véronique, Prip-Buus Carina, Acquaviva-Bourdain Cécile, Lascols Olivier, Fève Bruno, Vigouroux Corinne, Noel Esther, Jéru Isabelle
Abstract excerpt
BACKGROUND: Thymidine phosphorylase (TP), encoded by the TYMP gene, is a cytosolic enzyme essential for the nucleotide salvage pathway. TP catalyzes the phosphorylation of the deoxyribonucleosides, thymidine and 2'-deoxyuridine, to thymine and uracil. Biallelic TYMP variants are responsible for Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE), an autosomal recessive disorder characterized in most...
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