fbxl4

  1. hotblack

    Review The ubiquitin-proteasome system in circadian regulation, 2025, Costanzo et al

    The ubiquitin-proteasome system in circadian regulation Costanzo, Kara M.; Prifti, Matthew V.; Todi, Sokol V.; Mohan, Ryan D. Abstract To align sleep–wake behavior and internal physiology with the Earth’s 24-h light–dark cycle, organisms rely on circadian clocks–endogenous timekeeping systems...
  2. Andy

    Siblings of FBXL4-related mitochondrial DNA depletion syndrome, leading to fatal fulminant pneumonia 2025 Murayama et al

    Abstract The F-box and leucine-rich repeat protein 4 (FBXL4) is a nuclear encoded mitochondrial protein essential for mitochondrial DNA (mtDNA) maintenance. Biallelic variants in FBXL4 cause FBXL4-related mitochondrial DNA depletion syndrome (FBXL4-MTDPS), characterized by lactic acidosis and...
  3. SNT Gatchaman

    A mitochondrial SCF‐FBXL4 ubiquitin E3 ligase complex degrades BNIP3 and NIX to restrain mitophagy and prevent mitochondrial disease, 2023, Cao+

    A mitochondrial SCF‐FBXL4 ubiquitin E3 ligase complex degrades BNIP3 and NIX to restrain mitophagy and prevent mitochondrial disease Mitophagy is a fundamental quality control mechanism of mitochondria. Its regulatory mechanisms and pathological implications remain poorly understood. Here, via...
  4. Hutan

    Genetics: FBXL4

    DecodeME candidate ME/CFS gene ******************** FBXL4 (Tier 2) • Protein: F-box/LRR-repeat protein 4. UniProt. GeneCards. • Molecular function: Component of the mitochondria-localised SCF-FBXL4 ubiquitin E3 ligase complex. This complex restricts mitophagy by controlling the degradation...
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