BACE1, beta-secretase 1, 23621

N. diseases: 120; N. variants: 8
Disease: Down Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.070 Biomarker disease BEFREE Down syndrome) owing to impairment of BACE1-mediated processing of CHL1. 29391027 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.070 Biomarker disease BEFREE Beta-site amyloid β precursor protein (APP) cleaving enzyme 1 (BACE1), essential for Aβ production and neuritic plaque formation, is elevated in DS patients. 24935721 2015
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.070 AlteredExpression disease BEFREE Pharmacological inhibition of APP gamma-secretase, which markedly reduced Abeta production but raised betaCTF levels, also induced AD-like endosome dysfunction in 2N fibroblasts and worsened this pathology in DS fibroblasts. 20080541 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.070 Biomarker disease LHGDN The cholesterol transporter ABCG1 modulates the subcellular distribution and proteolytic processing of beta-amyloid precursor protein. 17293612 2007
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.070 Biomarker disease LHGDN Our results provide a novel molecular mechanism by which AD develops in DS and support the therapeutic potential of inhibiting BACE1 in AD and DS. 16816111 2006
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.070 Biomarker disease BEFREE Previously we showed that expression of the beta-site beta-amyloid precursor protein (APP) cleavage enzyme 1 (BACE1) gene BACE1 is tightly controlled at both the transcriptional and translational levels and that increased BACE1 maturation contributes to the AD pathogenesis in Down's syndrome. 17121991 2006
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.070 Biomarker disease BEFREE Our results provide a novel molecular mechanism by which AD develops in DS and support the therapeutic potential of inhibiting BACE1 in AD and DS. 16816111 2006
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.070 Biomarker disease BEFREE Particularly, a subtle structural difference around the DTG/DSG active site between the two structures has been observed that is useful for the in-depth selectivity study of BACE1 and BACE2 inhibitors, stimulating new therapeutic strategies for the treatment of Alzheimer's disease and Down syndrome as well. 15473697 2005