Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction.

doi:10.1053/j.gastro.2024.08.009

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Article

Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction.

Gastroenterology - 1 Jan 2025

Diquigiovanni Chiara, Rizzardi Nicola, Cataldi-Stagetti Erica, Gozzellino Livia, Isidori Federica, Valenti Francesca, Orsini Arianna, Astolfi Annalisa, Giangregorio Tania, Pironi Loris, Boschetti Elisa, Arrigo Serena, Maresca Alessandra, Magnoni Penelope, Costanzini Anna, Carelli Valerio, Taniguchi-Ikeda Mariko, Fato Romana, Bergamini Christian, De Giorgio Roberto, Bonora Elena

Abstract excerpt

BACKGROUND & AIMS: We recently identified a recessive syndrome due to DNA ligase 3 (LIG3) mutations in patients with chronic intestinal pseudo-obstruction, leukoencephalopathy, and neurogenic bladder. LIG3 mutations affect mitochondrial DNA maintenance, leading to defective energy production. We aimed at identifying altered molecular pathways and developing possible targeted treatments to revert/ameliorate the...

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PMID: 39173721
DOI: 10.1053/j.gastro.2024.08.009

Genes

LIG3

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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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