EGF, epidermal growth factor, 1950

N. diseases: 774; N. variants: 33
Disease: Spinal muscular atrophy with lower extremity predominance ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4750288
Disease: Spinal muscular atrophy with lower extremity predominance
Spinal muscular atrophy with lower extremity predominance 		0.010 GeneticVariation disease BEFREE We used the legs at odd angles (Loa) (DYNC1H1(F580Y)) mouse model for spinal muscular atrophy with lower extremity predominance and a combination of live-cell imaging and biochemical assays to show that the velocity of dynein-dependent microtubule minus-end (towards the nucleus) movement of EGF and BDNF induced signalling endosomes is significantly reduced in Loa embryonic fibroblasts and motor neurons. 24755273 2014