Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases.

ABSTRACT: Lysosomes are the main organelles responsible for the degradation of macromolecules in eukaryotic cells. Beyond their fundamental role in degradation, lysosomes are involved in different physiological processes such as autophagy, nutrient sensing, and intracellular signaling. In some circumstances, lysosomal abnormalities underlie several human pathologies with different etiologies known as known as lysosomal storage disorders (LSDs). These disorders can result from deficiencies in primary lysosomal enzymes, dysfunction of lysosomal enzyme activators, alterations in modifiers that impact lysosomal function, or changes in membrane-associated proteins, among other factors. The clinical phenotype observed in affected patients hinges on the type and location of the accumulating substrate, infl

SUBMITTER: Uribe-Carretero E 

PROVIDER: S-EPMC10813815 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature