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Titel:

Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.

Dokumenttyp:
Journal Article
Autor(en):
Rocchetti, Marcella; Sala, Luca; Dreizehnter, Lisa; Crotti, Lia; Sinnecker, Daniel; Mura, Manuela; Pane, Luna Simona; Altomare, Claudia; Torre, Eleonora; Mostacciuolo, Gaspare; Severi, Stefano; Porta, Alberto; De Ferrari, Gaetano M; George, Alfred L; Schwartz, Peter J; Gnecchi, Massimiliano; Moretti, Alessandra; Zaza, Antonio
Abstract:
Calmodulin (CaM) is a small protein, encoded by three genes (CALM1-3), exerting multiple Ca2+-dependent modulatory roles. A mutation (F142L) affecting only one of the six CALM alleles is associated with long QT syndrome (LQTS) characterized by recurrent cardiac arrests. This phenotypic severity is unexpected from the predicted allelic balance. In this work, the effects of heterozygous CALM1-F142L have been investigated in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) obt...     »
Zeitschriftentitel:
Cardiovasc Res
Jahr:
2017
Band / Volume:
113
Heft / Issue:
5
Seitenangaben Beitrag:
531-541
Sprache:
eng
Volltext / DOI:
doi:10.1093/cvr/cvx006
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/28158429
Print-ISSN:
0008-6363
TUM Einrichtung:
Arbeitsgruppe Tissue Engineering und Regenerative Medizin
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