Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE

Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE

Abstract Inherited deficiency of thymidine phosphorylase (TP), encoded by TYMP, leads to a rare disease with multiple mitochondrial DNA (mtDNA) abnormalities, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). However, the impact of TP deficiency on lysosomes remains unclear, which are i...

Full description

Bibliographic Details
Main Authors: Jixiang Du, Fuchen Liu, Xihan Liu, Dandan Zhao, Dongdong Wang, Hongsheng Sun, Chuanzhu Yan, Yuying Zhao
Format: Article
Language:English
Published: BMC 2024-05-01
Series:Journal of Translational Medicine
Subjects:
TYMP
Thymidine phosphorylase
MNGIE
Lysosomal dysfunction
Nucleotide metabolism
Online Access:https://doi.org/10.1186/s12967-024-05275-8

Internet

https://doi.org/10.1186/s12967-024-05275-8

Similar Items