Autophagy is an evolutionarily conserved lysosomal recycling system that integrates nutrient sensing, organelle quality control, proteostasis, cellular stress responses and metabolic adaptation. Autophagy is particularly relevant for post-mitotic tissue such as neurons, skin, and immune cells. Monogenic disorders disru...
H. Jungbluth, H. Dafsari, Carlos R. Ferreira et al.· Molecular Genetics and Metab...· 0 citations
Spliceosomal dysfunction profoundly impacts cellular metabolism, yet mechanistic links between RNA splicing defects and metabolic rewiring remain limited. Here, we investigate Verheij syndrome (VRJS), a rare disease caused by mutations in the core splicing factor PUF60. Using a Caenorhabditis elegans model, human cell...
A. Antebi, Wenming Huang, Jonathan Kölschbach et al.· Research Square· 0 citations
Pathogenic variants in RUBCN, encoding the Run domain Beclin-1 interacting and cysteine-rich domain-containing protein (Rubicon) have been implicated in autosomal recessive spinocerebellar ataxia 15 (SCAR15). However, the molecular mechanisms underlying disease pathogenesis remain poorly understood. Here, we report 18...
S. Efthymiou, K. Tabata, H. Dafsari et al.· medRxiv· 0 citations
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