Autophagy is increasingly recognized as a central immunological process whose roles extend far beyond intracellular recycling. By coordinating lysosomal degradation, organelle quality control, selective antimicrobial clearance, and inflammatory signal termination, autophagy acts as a decisive checkpoint at the crossr...
Juliane Schuler, Lea Tollmann, R. Körner et al.· Frontiers in Immunology· 0 citations
This review summarizes pathobiochemistry, genetics, clinical presentation, diagnosis and treatment prospects for inherited disorders of autophagy, and provides a standardized framework for quantifying shared phenotypic signatures across these ultra-rare conditions.
H. Jungbluth, H. Dafsari, Carlos R. Ferreira et al.· Molecular Genetics and Metab...· 0 citations
A mechanistic connection between RNA splicing and lipid metabolism is established, implicating VB12-dependent one-carbon metabolism as a metabolic modulator with broad implications for spliceosome-related diseases, and suggesting VB12 as a potential strategy to mitigate VRJS-related anomalies.
A. Antebi, Wen-Ming Huang, Jonathan Kölschbach et al.· Research Square· 0 citations
The RUBCN-related disorders are established and expand as a clinically and molecularly distinct subset of autophagy-related diseases and enhances understanding of autophagy-related neurodevelopmental disorders and provides a foundation for future therapeutic investigations.
S. Efthymiou, K. Tabata, H. Dafsari et al.· medRxiv· 0 citations
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