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POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.
Schindler RF, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S, Schwerte T, Poon KL, Fang M, Rinné S, Froese A, Nikolaev VO, Grunert C, Müller T, Tasca G, Sarathchandra P, Drago F, Dallapiccola B, Rapezzi C, Arbustini E, Di Raimo FR, Neri M, Selvatici R, Gualandi F, Fattori F, Pietrangelo A, Li W, Jiang H, Xu X, Bertini E, Decher N, Wang J, Brand T, Ferlini A. Schindler RF, et al. Among authors: ortiz bonnin b. J Clin Invest. 2016 Jan;126(1):239-53. doi: 10.1172/JCI79562. Epub 2015 Dec 7. J Clin Invest. 2016. PMID: 26642364 Free PMC article.
POPDC2 a novel susceptibility gene for conduction disorders.
Rinné S, Ortiz-Bonnin B, Stallmeyer B, Kiper AK, Fortmüller L, Schindler RFR, Herbort-Brand U, Kabir NS, Dittmann S, Friedrich C, Zumhagen S, Gualandi F, Selvatici R, Rapezzi C, Arbustini E, Ferlini A, Fabritz L, Schulze-Bahr E, Brand T, Decher N. Rinné S, et al. Among authors: ortiz bonnin b. J Mol Cell Cardiol. 2020 Aug;145:74-83. doi: 10.1016/j.yjmcc.2020.06.005. Epub 2020 Jun 11. J Mol Cell Cardiol. 2020. PMID: 32535041
Stress-Kinase Regulation of TASK-1 and TASK-3.
Rinné S, Kiper AK, Schmidt C, Ortiz-Bonnin B, Zwiener S, Seebohm G, Decher N. Rinné S, et al. Among authors: ortiz bonnin b. Cell Physiol Biochem. 2017;44(3):1024-1037. doi: 10.1159/000485402. Epub 2017 Nov 27. Cell Physiol Biochem. 2017. PMID: 29179200 Free article.
Sodium permeable and "hypersensitive" TREK-1 channels cause ventricular tachycardia.
Decher N, Ortiz-Bonnin B, Friedrich C, Schewe M, Kiper AK, Rinné S, Seemann G, Peyronnet R, Zumhagen S, Bustos D, Kockskämper J, Kohl P, Just S, González W, Baukrowitz T, Stallmeyer B, Schulze-Bahr E. Decher N, et al. Among authors: ortiz bonnin b. EMBO Mol Med. 2017 Apr;9(4):403-414. doi: 10.15252/emmm.201606690. EMBO Mol Med. 2017. PMID: 28242754 Free PMC article.
Popeye domain containing proteins modulate the voltage-gated cardiac sodium channel Nav1.5.
Rinné S, Kiper AK, Jacob R, Ortiz-Bonnin B, Schindler RFR, Fischer S, Komadowski M, De Martino E, Schäfer MK, Cornelius T, Fabritz L, Helker CSM, Brand T, Decher N. Rinné S, et al. Among authors: ortiz bonnin b. iScience. 2024 Apr 9;27(5):109696. doi: 10.1016/j.isci.2024.109696. eCollection 2024 May 17. iScience. 2024. PMID: 38689644 Free PMC article.