[HTML][HTML] HERG channel dysfunction in human long QT syndrome: intracellular transport and functional defects
Z Zhou, Q Gong, ML Epstein, CT January - Journal of Biological Chemistry, 1998 - ASBMB
Mutations in HERG are associated with human chromosome 7-linked congenital long QT
(LQT-2) syndrome. We used electrophysiological, biochemical, and immunohistochemical
methods to study the molecular mechanisms of HERG channel dysfunction caused by LQT-2
mutations. Wild type HERG and LQT-2 mutations were studied by stable and transient
expression in HEK 293 cells. We found that some mutations (Y611H and V822M) caused
defects in biosynthetic processing of HERG channels with the protein retained in the …
(LQT-2) syndrome. We used electrophysiological, biochemical, and immunohistochemical
methods to study the molecular mechanisms of HERG channel dysfunction caused by LQT-2
mutations. Wild type HERG and LQT-2 mutations were studied by stable and transient
expression in HEK 293 cells. We found that some mutations (Y611H and V822M) caused
defects in biosynthetic processing of HERG channels with the protein retained in the …