NNAT, neuronatin, 4826

N. diseases: 50; N. variants: 0
Disease: Lafora Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		0.030 Biomarker disease BEFREE Aggregation of Neuronatin within cortical neurons and resulting cell death is the hallmark of Lafora disease, a progressive and fatal neurodegenerative disease. 24345642 2014
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		0.030 Biomarker disease BEFREE These findings suggest that the neuronatin-induced aberrant Ca(2+) signaling and endoplasmic reticulum stress might underlie LD pathogenesis. 23408434 2013
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		0.030 Biomarker disease BEFREE Overall, our results indicate that malin negatively regulates neuronatin and its loss of function in LD results in increased accumulation of neuronatin, which might be implicated in the formation of Lafora body or other aspect of disease pathogenesis. 21742036 2011