ATXN1, ataxin 1, 6310

N. diseases: 218; N. variants: 24
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 In conclusion, our work suggests that the HTT and ATXN1 IAS may contribute to PNFA pathogenesis and point to a link between ATXN2 IAS and AD. 31810584 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 AlteredExpression disease BEFREE These findings suggest that loss of ataxin-1 elevates BACE1 expression and Aβ pathology, rendering it a potential contributor to AD risk and pathogenesis. 31442405 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 AlteredExpression disease BEFREE Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease. 30314815 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 Biomarker disease BEFREE In this study, we ask whether ATXN1 may lead to AD pathogenesis by affecting Abeta and APP processing utilizing RNA interference in a human neuronal cell model and mouse primary cortical neurons. 20097758 2010