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Article

Distinctive metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction.

Journal of molecular medicine (Berlin, Germany) - 1 Oct 2023

Du Jixiang, Zhang Chao, Liu Fuchen, Liu Xihan, Wang Dongdong, Zhao Dandan, Shui Guanghou, Zhao Yuying, Yan Chuanzhu

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the TYMP gene, which encodes thymidine phosphorylase (TP). As a cytosolic metabolic enzyme, TP defects affect biological processes that are thought to not be limited to the abnormal replication of mitochondrial DNA. This study aimed to elucidate the characteristic metabolic alterations and associated homeostatic regulation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37603049
DOI: 10.1007/s00109-023-02358-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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