MAPK8, mitogen-activated protein kinase 8, 5599

N. diseases: 520; N. variants: 4
Disease: Hypothalamic hamartomas ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		0.010 AlteredExpression disease BEFREE Our data show that compared with hypothalamic control tissue, in HH tissue, (i) activation of TrkB and expression of mature BDNF are elevated; (ii) MAPKs (including ERK1/2, p38, and JNK), Akt, and PLCγ1 are highly activated; (iii) KCC2 expression is downregulated; and (iv) pharmacological manipulation of TrkB signaling alters HH neuronal firing rate. 25307426 2015