MCOLN1, mucolipin 1, 57192

N. diseases: 102; N. variants: 40
Disease: Alzheimer's Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 Biomarker disease BEFREE Our findings suggest that endolysosome acidification by activating TRPML1 may represent a protective strategy against sporadic AD. 30594929 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 Biomarker disease BEFREE TRPML1 is involved in the pathogenesis of AD by regulating autophagy at least in part through the PPARγ/AMPK/mTOR signallingpathway. 29131026 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 Biomarker disease BEFREE Curcumin Exerts Effects on the Pathophysiology of Alzheimer's Disease by Regulating PI(3,5)P2 and Transient Receptor Potential Mucolipin-1 Expression. 29062301 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 GeneticVariation disease BEFREE Mutations in TRPML1 cause mucolipidosis type IV and it has been implicated in Alzheimer's disease and HIV. 26009188 2015