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Title:

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

Document type:
Journal Article
Author(s):
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...     »
Journal title abbreviation:
Cardiovasc Res
Year:
2017
Journal volume:
113
Journal issue:
5
Pages contribution:
531-541
Language:
eng
Fulltext / DOI:
doi:10.1093/cvr/cvx006
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/28158429
Print-ISSN:
0008-6363
TUM Institution:
Arbeitsgruppe Tissue Engineering und Regenerative Medizin
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