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Title:

Aberrant Deactivation-Induced Gain of Function in TRPM4 Mutant Is Associated with Human Cardiac Conduction Block.

Document type:
Journal Article
Author(s):
Xian, Wenying; Hui, Xin; Tian, Qinghai; Wang, Hongmei; Moretti, Alessandra; Laugwitz, Karl-Ludwig; Flockerzi, Veit; Ruppenthal, Sandra; Lipp, Peter
Abstract:
A gain-of-function mutation in the Ca2+-activated transient receptor potential melastatin member 4 (TRPM4A432T) is linked to life-threatening cardiac conduction disturbance, but the underlying mechanism is unclear. For deeper insights, we used photolysis of caged Ca2+, quantitative Ca2+, and electrophysiological measurements. TRPM4A432T's 2-fold larger membrane current was associated with 50% decreased plasma membrane expression. Kinetic analysis unveiled 4-fold slower deactivation that was resp...     »
Journal title abbreviation:
Cell Rep
Year:
2018
Journal volume:
24
Journal issue:
3
Pages contribution:
724-731
Language:
eng
Fulltext / DOI:
doi:10.1016/j.celrep.2018.06.034
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/30021168
Print-ISSN:
2211-1247
TUM Institution:
Arbeitsgruppe Tissue Engineering und Regenerative Medizin; I. Medizinische Klinik und Poliklinik (Kardiologie)
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