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Select item 110860221.

Clinical and genetic characteristics of myotonia congenita in Chinese population

Yuting He, Yusen Qiu, Ying Xiong, Yu Shen, Kaiyan Jiang, Hancun Yi, Pengcheng Huang, Yu Zhu, Min Zhu, Meihong Zhou, Daojun Hong, Dandan Tan

Channels (Austin) 2024; 18(1): 2349823. Published online 2024 May 8. doi: 10.1080/19336950.2024.2349823

PMCID:: PMC11086022

Abstract Article PDF–3.8M

Select item 93023202.

Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people

Yan-Xin Meng, Mei Yu, Chunmiao Liu, Haijuan Zhang, Yuxiu Yang, Jing Zhang

Medicine (Baltimore) 2022 Jul 22; 101(29): e29591. Published online 2022 Jul 22. doi: 10.1097/MD.0000000000029591

PMCID:: PMC9302320

Abstract Article PDF–746K

Select item 86062173.

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis

Huanhuan Liang, Niu Li, Ru‐en Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang

Mol Genet Genomic Med. 2021 Nov; 9(11): e1815. Published online 2021 Sep 21. doi: 10.1002/mgg3.1815

PMCID:: PMC8606217

Abstract Article PDF–1.4M

Select item 80770714.

Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence

Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin

Mol Genet Genomic Med. 2021 Feb; 9(2): e1588. Published online 2021 Jan 28. doi: 10.1002/mgg3.1588

PMCID:: PMC8077071

Abstract Article PDF–700K

Select item 79181765.

Functional and Structural Characterization of ClC-1 and Na_v1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients

Oscar Brenes, Raffaella Barbieri, Melissa Vásquez, Rebeca Vindas-Smith, Jeffrey Roig, Adarli Romero, Gerardo del Valle, Luis Bermúdez-Guzmán, Sara Bertelli, Michael Pusch, Fernando Morales

Cells. 2021 Feb; 10(2): 374. Published online 2021 Feb 11. doi: 10.3390/cells10020374

PMCID:: PMC7918176

Abstract Article PDF–26M

Select item 75797866.

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov

BMC Med Genet. 2020; 21(Suppl 1): 197. Published online 2020 Oct 22. doi: 10.1186/s12881-020-01128-5

PMCID:: PMC7579786

Abstract Article PDF–922K

Select item 71699837.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 67781378.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Abstract Article PDF–7.8M

Select item 63208029.

FKBP8 Enhances Protein Stability of the CLC-1 Chloride Channel at the Plasma Membrane

Yi-Jheng Peng, Yi-Ching Lee, Ssu-Ju Fu, Yun-Chia Chien, Yi-Fan Liao, Tsung-Yu Chen, Chung-Jiuan Jeng, Chih-Yung Tang

Int J Mol Sci. 2018 Dec; 19(12): 3783. Published online 2018 Nov 28. doi: 10.3390/ijms19123783

PMCID:: PMC6320802

Abstract Article PDF–3.8M

Select item 601906610.

Structure of the CLC-1 chloride channel from Homo sapiens

Eunyong Park, Roderick MacKinnon

eLife. 2018; 7: e36629. Published online 2018 May 29. doi: 10.7554/eLife.36629

PMCID:: PMC6019066

Abstract Article PDF–6.3M

Select item 556255811.

Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations

Hong-Fu Li, Wan-Jin Chen, Wang Ni, Zhi-Ying Wu

Neurosci Bull. 2014 Dec; 30(6): 1010–1016. Published online 2014 Sep 5. doi: 10.1007/s12264-014-1467-7

PMCID:: PMC5562558

Abstract Article PDF–340K

Select item 527988312.

Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature

Xinglong Yang, Hua Jia, Ran An, Jing Xi, Yanming Xu

Channels (Austin) 2017; 11(1): 55–65. Published online 2016 Jul 14. doi: 10.1080/19336950.2016.1212140

PMCID:: PMC5279883

Abstract Article PDF–917K

Select item 502470013.

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

Paola Imbrici, Concetta Altamura, Giulia Maria Camerino, Giuseppe Felice Mangiatordi, Elena Conte, Lorenzo Maggi, Raffaella Brugnoni, Kejla Musaraj, Roberta Caloiero, Domenico Alberga, Renè Massimiliano Marsano, Giulia Ricci, Gabriele Siciliano, Orazio Nicolotti, Marina Mora, Pia Bernasconi, Jean-Francois Desaphy, Renato Mantegazza, Diana Conte Camerino

FASEB J. 2016 Oct; 30(10): 3285–3295. Published online 2016 Jun 20. doi: 10.1096/fj.201500079R

PMCID:: PMC5024700

Abstract Article

Select item 500753514.

Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β

Yi-Jheng Peng, Jing-Jia Huang, Hao-Han Wu, Hsin-Ying Hsieh, Chia-Ying Wu, Shu-Ching Chen, Tsung-Yu Chen, Chih-Yung Tang

Sci Rep. 2016; 6: 32444. Published online 2016 Sep 1. doi: 10.1038/srep32444

PMCID:: PMC5007535

Abstract Article PDF–3.0M

Select item 490802115.

Protein kinase C‐dependent regulation of ClC‐1 channels in active human muscle and its effect on fast and slow gating

Anders Riisager, Frank Vincenzo de Paoli, Wei‐Ping Yu, Thomas Holm Pedersen, Tsung‐Yu Chen, Ole Bækgaard Nielsen

J Physiol. 2016 Jun 15; 594(12): 3391–3406. Published online 2016 Mar 20. doi: 10.1113/JP271556

PMCID:: PMC4908021

Abstract Article PDF–1.3M

Select item 482613716.

Myotonia congenita: novel mutations in CLCN1 gene

Xiao-Li Liu, Xiao-Jun Huang, Jun-Yi Shen, Hai-Yan Zhou, Xing-Hua Luan, Tian Wang, Sheng-Di Chen, Ying Wang, Hui-Dong Tang, Li Cao

Channels (Austin) 2015 Sep-Oct; 9(5): 292–298. Published online 2015 Aug 11. doi: 10.1080/19336950.2015.1075676

PMCID:: PMC4826137

Abstract Article PDF–456K

Select item 462151717.

Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations

Katharina Ronstedt, Damien Sternberg, Silvia Detro-Dassen, Thomas Gramkow, Birgit Begemann, Toni Becher, Petra Kilian, Matthias Grieschat, Jan-Philipp Machtens, Günther Schmalzing, Martin Fischer, Christoph Fahlke

Sci Rep. 2015; 5: 15382. Published online 2015 Oct 27. doi: 10.1038/srep15382

PMCID:: PMC4621517

Abstract Article PDF–1.3M

Select item 459429218.

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype–phenotype correlation

P Imbrici, L Maggi, G F Mangiatordi, M M Dinardo, C Altamura, R Brugnoni, D Alberga, G Lauria Pinter, G Ricci, G Siciliano, R Micheli, G Annicchiarico, G Lattanzi, O Nicolotti, L Morandi, P Bernasconi, J-F Desaphy, R Mantegazza, D Conte Camerino

J Physiol. 2015 Sep 15; 593(Pt 18): 4181–4199. Published online 2015 Jul 14. doi: 10.1113/JP270358

PMCID:: PMC4594292

Abstract Article PDF–1.1M

Select item 453451319.

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

Simona Portaro, Concetta Altamura, Norma Licata, Giulia M. Camerino, Paola Imbrici, Olimpia Musumeci, Carmelo Rodolico, Diana Conte Camerino, Antonio Toscano, Jean-François Desaphy

Neuromolecular Med. 2015; 17(3): 285–296. Published online 2015 May 26. doi: 10.1007/s12017-015-8356-8

PMCID:: PMC4534513

Abstract Article PDF–1.8M

Select item 444813220.

The Cullin 4A/B-DDB1-Cereblon E3 Ubiquitin Ligase Complex Mediates the Degradation of CLC-1 Chloride Channels

Yi-An Chen, Yi-Jheng Peng, Meng-Chun Hu, Jing-Jia Huang, Yun-Chia Chien, June-Tai Wu, Tsung-Yu Chen, Chih-Yung Tang

Sci Rep. 2015; 5: 10667. Published online 2015 May 29. doi: 10.1038/srep10667

PMCID:: PMC4448132

Abstract Article PDF–2.1M

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