NRF1, nuclear respiratory factor 1, 4899

N. diseases: 74; N. variants: 5
Disease: Huntington Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 GeneticVariation disease BEFREE Moreover, the conditional Nrf1 allele we have generated provides the opportunity to develop novel mouse models to understand how defective mitochondrial biogenesis contributes to the pathologies and disease progression of several neurodegenerative diseases, including glaucoma, age-related macular degeneration, Parkinson's diseases, and Huntington's disease. 30333037 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 AlteredExpression disease BEFREE Treatment with GPA significantly increased expression of PGC-1alpha, NRF1, Tfam and downstream genes in the striatum and cerebral cortex of wild-type (WT) mice, but there was no effect on these genes in the HD mice. 20529956 2010
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 Biomarker disease BEFREE Oxygen consumption, PGC-1alpha, NRF1 and response to GPA were significantly reduced in myoblasts from HD patients. 19460884 2009