POTEF, POTE ankyrin domain family member F, 728378

N. diseases: 215; N. variants: 2
Disease: Choroideremia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008525
Disease: Choroideremia
Choroideremia 		0.020 AlteredExpression disease BEFREE To establish the proof of concept of AAV7m8 mediated CHM gene therapy, we developed AAV7m8.hCHM, which delivers the human CHM cDNA under control of CMV-enhanced chicken β-actin promoter (CßA). 29414605 2018
CUI: C0008525
Disease: Choroideremia
Choroideremia 		0.020 Biomarker disease BEFREE Subretinal injections of AAV2/2-CBA-REP1 into CHM mouse retinas led to a significant increase in a- and b-wave of ERG responses in comparison to sham-injected eyes confirming that AAV2/2-CBA-REP1 is a promising vector suitable for choroideremia gene therapy in human clinical trials. 23756766 2013