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International Journal of Molecular Sciences|September 7, 2019
Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic CardiomyopathiesAndreas Brodehl, Hans Ebbinghaus, Marcus-André Deutsch, et al.
Stem Cell Research|August 29, 2020
Human pluripotent stem cell line (HDZi001-A) derived from a patient carrying the ARVC-5 associated mutation TMEM43-p.S358LSandra Ratnavadivel, Marcelo Szymanski de Toledo, Torsten Bloch Rasmussen, et al.
Cellular and Molecular Life Sciences : CMLS|July 22, 2022
A Drosophila melanogaster model for TMEM43-related arrhythmogenic right ventricular cardiomyopathy type 5Nora Klinke, Heiko Meyer, Sandra Ratnavadivel, et al.
Biology Open|March 24, 2026
An ARVC-5 Drosophila knock-in model reveals new functions of Tmem43 in lipid homeostasisKai Jürgens, Lena Menzel, Nora Klinke, et al.
Genes|November 14, 2019
Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly DefectAndreas Brodehl, Seyed Ahmad Pour Hakimi, Caroline Stanasiuk, et al.
Biomedicines|October 23, 2021
The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3Andreas Brodehl, Carsten Hain, Franziska Flottmann, et al.
Cellular and Molecular Life Sciences : CMLS|November 14, 2025
The ARVC-5-associated protein TMEM43 controls mitochondrial energy metabolism by stabilising ER-mitochondrial contact sitesKai Jürgens, Lena Menzel, Nora Klinke, et al.
Stem Cell Research|March 2, 2024
Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9Sandra Ratnavadivel, Joline Dammeier, Anna Gaertner, et al.
Circulation. Genomic and Precision Medicine|April 1, 2026
Newfoundland Mutation TMEM43-p.S358L Causes Impaired Cardiac Energy Metabolism and Mitochondrial Function Through Altered Protein InteractionSandra Ratnavadivel, Kai Jürgens, Nora Klinke, et al.
The Canadian Journal of Cardiology|December 8, 2020
The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic CardiomyopathyAlexandros Protonotarios, Andreas Brodehl, Angeliki Asimaki, et al.
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