TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: Apnea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003578
Disease: Apnea
Apnea 		0.020 Biomarker phenotype BEFREE The hypoxic ventilatory response (HVR) is markedly attenuated by AMPK-α1 deletion conditional on the expression of Cre-recombinase in tyrosine hydroxylase (TH) expressing cells, precipitating marked increases in apnea frequency and duration. 29928235 2018
CUI: C0003578
Disease: Apnea
Apnea 		0.020 AlteredExpression phenotype BEFREE In addition, we also found a cell autonomous increase in tyrosine hydroxylase levels in the A1C1 and A2C2 catecholaminergic Mecp2+ neurons in treated Mecp2 KO mice, which may partly explain the beneficial effect of AAV9-MCO administration on apneas occurrence. 27974239 2017