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A rare oligosaccharidosis characterized by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
Cytosine base editors target the prevalent c.488G>A (p.Cys163Tyr) mutation in the AGA gene, converting the pathogenic cytosine back to guanine, restoring wild-type aspartylglucosaminidase enzyme function
Rapamycin inhibits mTORC1, activating autophagy pathways including ULK1 and Beclin-1, facilitating clearance of accumulated aspartylglucosamine and glycoasparagine conjugates in lysosomes when AGA enzyme is deficient
N-acetylmannosamine acts as a competitive inhibitor-turned-chaperone, stabilizing mutant AGA enzyme during ER processing, preventing degradation and allowing trafficking to lysosomes where it dissociates and restores partial catalytic activity
Astragaloside IV activates AMPK-TFEB pathway, promoting nuclear translocation of TFEB transcription factor, upregulating LAMP1, LAMP2, and cathepsin expression to enhance lysosomal capacity and substrate processing despite AGA deficiency
Curcumin activates HSF1 transcription factor, upregulating HSP70 and HSP90 chaperones, potentially stabilizing misfolded AGA enzyme variants and enhancing residual enzymatic activity through proper protein folding
Beta-glucans from Ganoderma lucidum bind TLR2/TLR4 receptors on microglia, shifting from M1 to M2 phenotype, reducing neuroinflammation and IL-1ฮฒ/TNF-ฮฑ production that exacerbates neurodegeneration in aspartylglucosaminuria