PPT1, palmitoyl-protein thioesterase 1, 5538

N. diseases: 112; N. variants: 90
Disease: Gaucher Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.010 Biomarker disease BEFREE We tested the encapsulation strategy on four enzymes currently investigated for enzyme replacement therapy: palmitoyl protein thioesterase 1 (PPT1; defective in NCL1 disease), galactosylceramidase (GALC; defective in globoid cell leukodystrophy), alpha glucosidase (aGLU; defective in Pompe disease), and beta glucosidase (bGLU; defective in Gaucher's disease). 29894633 2018