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H. Jungbluth

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Review Open access Oct 2026

Autophagy, endolysosomes and extracellular space in autoimmune and innate immune defects

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. · 0 citations
Review Open access Aug 2026

Clinical and biochemical footprints of inherited disorders of autophagy.

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. · 0 citations
Open access Aug 2026

Biallelic titin truncation disrupts sarcomere assembly and function in patient-derived iPSC-cardiomyocytes.

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. · 0 citations

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