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Article

FBXL4 deficiency increases mitochondrial removal by autophagy.

EMBO molecular medicine - 7 Jul 2020

Alsina David, Lytovchenko Oleksandr, Schab Aleksandra, Atanassov Ilian, Schober Florian A, Jiang Min, Koolmeister Camilla, Wedell Anna, Taylor Robert W, Wredenberg Anna, Larsson Nils-Göran

Abstract excerpt

Pathogenic variants in FBXL4 cause a severe encephalopathic syndrome associated with mtDNA depletion and deficient oxidative phosphorylation. To gain further insight into the enigmatic pathophysiology caused by FBXL4 deficiency, we generated homozygous Fbxl4 knockout mice and found that they display a predominant perinatal lethality. Surprisingly, the few surviving animals are apparently normal until the age of...

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Identifiers

PMID: 32525278
DOI: 10.15252/emmm.201911659
PMCID: PMC7338799

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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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