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POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.
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
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Functional mutagenesis screens reveal the 'cap structure' formation in disulfide-bridge free TASK channels.
Goldstein M, Rinné S, Kiper AK, Ramírez D, Netter MF, Bustos D, Ortiz-Bonnin B, González W, Decher N.
Goldstein M, et al. Among authors: ortiz bonnin b.
Sci Rep. 2016 Jan 22;6:19492. doi: 10.1038/srep19492.
Sci Rep. 2016.
PMID: 26794006
Free PMC article.
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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.
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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.
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Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.
Wemhöner K, Friedrich C, Stallmeyer B, Coffey AJ, Grace A, Zumhagen S, Seebohm G, Ortiz-Bonnin B, Rinné S, Sachse FB, Schulze-Bahr E, Decher N.
Wemhöner K, et al. Among authors: ortiz bonnin b.
J Mol Cell Cardiol. 2015 Mar;80:186-95. doi: 10.1016/j.yjmcc.2015.01.002. Epub 2015 Jan 26.
J Mol Cell Cardiol. 2015.
PMID: 25633834
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Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations.
Ortiz-Bonnin B, Rinné S, Moss R, Streit AK, Scharf M, Richter K, Stöber A, Pfeufer A, Seemann G, Kääb S, Beckmann BM, Decher N.
Ortiz-Bonnin B, et al.
Pflugers Arch. 2016 Aug;468(8):1375-87. doi: 10.1007/s00424-016-1844-3. Epub 2016 Jun 11.
Pflugers Arch. 2016.
PMID: 27287068
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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.
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