POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

Roland F. R. Schindler; Chiara Scotton; Jianguo Zhang; Chiara Passarelli; Beatriz Ortiz-Bonnin; Subreena Simrick; Thorsten Schwerte; Kar-Lai Poon; Mingyan Fang; Susanne Rinne; Alexander Froese; Viacheslav O. Nikolaev; Christiane Grunert; Thomas Mueller; Giorgio Tasca; Padmini Sarathchandra; Fabrizio Drago; Bruno Dallapiccola; Claudio Rapezzi; Eloise Arbustini; Francesca Romana Di Raimo; Marcella Neri; Rita Selvatici; Francesca Gualandi; Fabiana Fattori; Antonello Pietrangelo; Wenyan Li; Hui Jiang; Xun Xu; Enrico Bertini; Niels Becher; Jun Wang; Thomas Brand; Alessandra Ferlini

doi:10.1172/jci79562

POPDC1^S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

Roland F. R. Schindler, Chiara Scotton, Jianguo Zhang, Chiara Passarelli, Beatriz Ortiz-Bonnin, Subreena Simrick, Thorsten Schwerte, Kar-Lai Poon, Mingyan Fang, Susanne Rinne, Alexander Froese, Viacheslav O. Nikolaev, Christiane Grunert, Thomas Mueller, Giorgio Tasca, Padmini Sarathchandra, Fabrizio Drago, Bruno Dallapiccola, Claudio Rapezzi, Eloise ArbustiniFrancesca Romana Di Raimo, Marcella Neri, Rita Selvatici, Francesca Gualandi, Fabiana Fattori, Antonello Pietrangelo, Wenyan Li, Hui Jiang, Xun Xu, Enrico Bertini, Niels Becher, Jun Wang, Thomas Brand, Alessandra Ferlini

Genome Research and Molecular Bio Medicine

43 Citations (Scopus)

Original language	English
Journal	Journal of Clinical Investigation
Volume	126
Issue number	1
Pages (from-to)	239-253
Number of pages	15
ISSN	0021-9738
DOIs	https://doi.org/10.1172/jci79562
Publication status	Published - 4 Jan 2016

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Schindler, R. F. R., Scotton, C., Zhang, J., Passarelli, C., Ortiz-Bonnin, B., Simrick, S., Schwerte, T., Poon, K-L., Fang, M., Rinne, S., Froese, A., Nikolaev, V. O., Grunert, C., Mueller, T., Tasca, G., Sarathchandra, P., Drago, F., Dallapiccola, B., Rapezzi, C., ... Ferlini, A. (2016). POPDC1^S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking. Journal of Clinical Investigation, 126(1), 239-253. https://doi.org/10.1172/jci79562

Schindler, RFR, Scotton, C, Zhang, J, Passarelli, C, Ortiz-Bonnin, B, Simrick, S, Schwerte, T, Poon, K-L, Fang, M, Rinne, S, Froese, A, Nikolaev, VO, Grunert, C, Mueller, 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, Becher, N, Wang, J, Brand, T & Ferlini, A 2016, 'POPDC1^S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking', Journal of Clinical Investigation, vol. 126, no. 1, pp. 239-253. https://doi.org/10.1172/jci79562

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title = "POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking",

author = "Schindler, {Roland F. R.} and Chiara Scotton and Jianguo Zhang and Chiara Passarelli and Beatriz Ortiz-Bonnin and Subreena Simrick and Thorsten Schwerte and Kar-Lai Poon and Mingyan Fang and Susanne Rinne and Alexander Froese and Nikolaev, {Viacheslav O.} and Christiane Grunert and Thomas Mueller and Giorgio Tasca and Padmini Sarathchandra and Fabrizio Drago and Bruno Dallapiccola and Claudio Rapezzi and Eloise Arbustini and {Di Raimo}, {Francesca Romana} and Marcella Neri and Rita Selvatici and Francesca Gualandi and Fabiana Fattori and Antonello Pietrangelo and Wenyan Li and Hui Jiang and Xun Xu and Enrico Bertini and Niels Becher and Jun Wang and Thomas Brand and Alessandra Ferlini",

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doi = "10.1172/jci79562",

language = "English",

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T1 - POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

AU - Schindler, Roland F. R.

AU - Scotton, Chiara

AU - Zhang, Jianguo

AU - Passarelli, Chiara

AU - Ortiz-Bonnin, Beatriz

AU - Simrick, Subreena

AU - Schwerte, Thorsten

AU - Poon, Kar-Lai

AU - Fang, Mingyan

AU - Rinne, Susanne

AU - Froese, Alexander

AU - Nikolaev, Viacheslav O.

AU - Grunert, Christiane

AU - Mueller, Thomas

AU - Tasca, Giorgio

AU - Sarathchandra, Padmini

AU - Drago, Fabrizio

AU - Dallapiccola, Bruno

AU - Rapezzi, Claudio

AU - Arbustini, Eloise

AU - Di Raimo, Francesca Romana

AU - Neri, Marcella

AU - Selvatici, Rita

AU - Gualandi, Francesca

AU - Fattori, Fabiana

AU - Pietrangelo, Antonello

AU - Li, Wenyan

AU - Jiang, Hui

AU - Xu, Xun

AU - Bertini, Enrico

AU - Becher, Niels

AU - Wang, Jun

AU - Brand, Thomas

AU - Ferlini, Alessandra

PY - 2016/1/4

Y1 - 2016/1/4

U2 - 10.1172/jci79562

DO - 10.1172/jci79562

M3 - Journal article

C2 - 26642364

SN - 0021-9738

VL - 126

SP - 239

EP - 253

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

IS - 1

ER -

POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

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POPDC1^S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking