Disease: Neuroaxonal Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338473
Disease: Neuroaxonal Dystrophies
Neuroaxonal Dystrophies 		0.010 Biomarker group BEFREE While neurons in mammalian models of NPC1 and NPC2 diseases exhibit many changes that are remarkably similar to those in humans (e.g., endosomal/lysosomal storage, Golgi fragmentation, neuroaxonal dystrophy, neurodegeneration), a reduced degree of ectopic dendritogenesis and an absence of NFTs in these species suggest important differences in the way lower mammalian neurons respond to NPC1/NPC2 loss of function. 15465426 2004