A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

doi:10.1002/jimd.70245

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Article

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

Journal of inherited metabolic disease - 1 Sept 2026

McCarron Eamon P, Blau Nenad, Eden Emily R, Platt Frances M, Aerts Johannes M, Jones Simon A, Ferreira Carlos R, Stepien Karolina M

Abstract excerpt

Lysosomal disorders (LDs) have traditionally been defined by intra-lysosomal substrate accumulation resulting from deficiencies of lysosomal enzymes or associated proteins. Advances in lysosomal biology have demonstrated that lysosomes function as central regulators of cellular signalling, membrane trafficking, autophagy, nutrient sensing, organelle communication and cellular homeostasis, expanding the spectrum...

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PMID: 42642022
DOI: 10.1002/jimd.70245
PMCID: PMC13506238

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