The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel-Reference-Cited by-同舟云学术

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel

Published:2018-07-04 Issue:9 Volume:39 Page:1273-1283
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Altamura Concetta¹,Lucchiari Sabrina²³,Sahbani Dalila¹,Ulzi Gianna²³,Comi Giacomo P.²³,D'Ambrosio Paola⁴,Petillo Roberta⁴,Politano Luisa⁴,Vercelli Liliana⁵,Mongini Tiziana⁵,Dotti Maria Teresa⁶,Cardani Rosanna⁷,Meola Giovanni⁸,Lo Monaco Mauro⁹¹⁰,Matthews Emma¹¹,Hanna Michael G.¹¹,Carratù Maria Rosaria¹²,Conte Diana¹,Imbrici Paola¹,Desaphy Jean-François¹²^ORCID

Affiliation:

1. Department of Pharmacy-Drug Sciences; University of Bari Aldo Moro; Bari Italy

2. Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT); University of Milan; Milan Italy

3. Neurology Unit; IRCCS Fondazione Ca’ Grande Ospedale Maggiore Policlinico; Milan Italy

4. Cardiomyology and Medical Genetics, Department of Experimental Medicine; University of Campania; Naples Italy

5. Neuromuscular Unit, Department of Neurosciences, Hospital Città della Salute e della Scienza of Torino; University of Torino; Turin Italy

6. Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences; University of Siena; Siena Italy

7. Laboratory of Muscle Histopathology and Molecular Biology; IRCCS Policlinico San Donato; Milan Italy

8. Department of Biomedical Sciences for Health; University of Milan, IRCCS Policlinico San Donato; Milan Italy

9. Institute of Neurology; Catholic University of Sacred Heart, Polyclinic Gemelli; Rome Italy

10. MiA Onlus (“Miotonici in Associazione”); Portici Italy

11. MRC Centre for Neuromuscular Diseases; UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; London UK

12. Department of Biomedical Sciences and Human Oncology; University of Bari Aldo Moro, Polyclinic; Bari Italy

Funder

Association Française contre les Myopathies

Fondazione Telethon

Universita degli Studi di Bari Aldo Moro

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23581/fullpdf

Reference48 articles.

1. Molecular basis for decreased muscle chloride conductance in the myotonic goat;Beck;Proceedings of the National Academy of Sciences of the USA,1996

2. Cytoplasmic ATP-sensing domains regulate gating of skeletal muscle ClC-1 chloride channels;Bennetts;Journal of Biological Chemistry,2005

3. Molecular determinants of common gating of a ClC chloride channel;Bennetts;Nature Communications,2013

4. Intracellular β-nicotinamide adenine dinucleotide inhibits the skeletal muscle ClC-1 chloride channel;Bennetts;Journal of Biological Chemistry,2012

5. A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene;Brugnoni;Journal of Human Genetics,2013

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