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
Using induced pluripotent stem cell-derived cardiomyocytes from a biallelic TTNtv patient with dilated cardiomyopathy, sarcomere structure/function is investigated and inefficient sarcomere assembly and interaction promotes cardiomyopathy in biallelic TTNtv.
Magnhild Sekse Erdal, Jing Qi, P. Erusappan et al.· Journal of Molecular and Cel...· 0 citations
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