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An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.
Glucose-based iminosugars act as pharmacological chaperones by binding reversibly to LAMAN active site, stabilizing protein structure during ER transit and increasing lysosomal delivery of functional enzyme
Prime editor 3.0 systems delivered via AAV-PHP.eB target frequent splice site mutations (c.2248C>T, c.1816-1G>A) to restore normal LAMAN mRNA processing and protein expression in neural tissues
Dual approach combining N-butyldeoxynojirimycin (miglustat) substrate reduction with ML-SA1 TRPML1 channel activation to restore lysosomal calcium efflux and normalize lysosomal pH for optimal residual enzyme function
MSCs engineered to overexpress LAMAN release enzyme-loaded exosomes that cross blood-brain barrier via LRP1-mediated transcytosis, delivering functional ฮฑ-mannosidase directly to affected neurons and microglia
Curcumin induces HSP70 expression via HSF1 activation, potentially stabilizing misfolded LAMAN protein variants and enhancing residual ฮฑ-mannosidase activity through improved protein folding and reduced ER stress
Withanolides from Withania somnifera activate TFEB through mTORC1 inhibition and calcium-mediated calcineurin activation, upregulating lysosomal biogenesis genes including alternative mannose-processing enzymes
Unkei-to components (Coptis chinensis, Scutellaria baicalensis) combined with mannose-rich Dendrobium species modulate glycosphingolipid metabolism via UGCG downregulation and enhance alternative mannose clearance pathways through gut microbiome modulation