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Article

Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.

Molecular therapy : the journal of the American Society of Gene Therapy - 1 May 2014

Torres-Torronteras Javier, Viscomi Carlo, Cabrera-Pérez Raquel, Cámara Yolanda, Di Meo Ivano, Barquinero Jordi, Auricchio Alberto, Pizzorno Giuseppe, Hirano Michio, Zeviani Massimo, Martí Ramon

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in TYMP, enconding thymidine phosphorylase (TP). TP deficiency results in systemic accumulation of thymidine and deoxyuridine, which interferes with mitochondrial DNA (mtDNA) replication and leads to mitochondrial dysfunction. To date, the only treatment available for MNGIE patients is allogeneic...

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Source

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Identifiers

PMID: 24448160
DOI: 10.1038/mt.2014.6
PMCID: PMC4015233

Genes

TYMP

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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