CTSD, cathepsin D, 1509

N. diseases: 242; N. variants: 13
Disease: Senile Plaques ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		0.010 AlteredExpression disease BEFREE This mutation event has been observed to alter the protease activity of the cathepsin D protein and has been linked to an increase in amyloid beta plaque formation in AD. vCJD neuropathology is characterised by the presence of amyloid plaques, formed from the prion protein, and therefore alterations in the amyloid processing activity of cathepsin D may affect the neuropathogenesis of this disease. 18426579 2008