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Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes.
Janz A, Walz K, Cirnu A, Surjanto J, Urlaub D, Leskien M, Kohlhaas M, Nickel A, Brand T, Nose N, Wörsdörfer P, Wagner N, Higuchi T, Maack C, Dudek J, Lorenz K, Klopocki E, Ergün S, Duff HJ, Gerull B. Janz A, et al. Mol Metab. 2024 Jan;79:101859. doi: 10.1016/j.molmet.2023.101859. Epub 2023 Dec 23. Mol Metab. 2024. PMID: 38142971 Free PMC article.
Generation of induced pluripotent stem cell (iPSC) lines carrying a heterozygous (UKWMPi002-A-1) and null mutant knockout (UKWMPi002-A-2) of Cadherin 13 associated with neurodevelopmental disorders using CRISPR/Cas9.
Vitale MR, Zöller JEM, Jansch C, Janz A, Edenhofer F, Klopocki E, van den Hove D, Vanmierlo T, Rivero O, Nadif Kasri N, Ziegler GC, Lesch KP. Vitale MR, et al. Among authors: janz a. Stem Cell Res. 2021 Mar;51:102169. doi: 10.1016/j.scr.2021.102169. Epub 2021 Jan 11. Stem Cell Res. 2021. PMID: 33486346 Free article.
Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.
Janz A, Chen R, Regensburger M, Ueda Y, Rost S, Klopocki E, Günther K, Edenhofer F, Duff HJ, Ergün S, Gerull B. Janz A, et al. Stem Cell Res. 2020 Jul;46:101856. doi: 10.1016/j.scr.2020.101856. Epub 2020 Jun 2. Stem Cell Res. 2020. PMID: 32521499 Free article.
25 results