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Title
Skeletal muscle ClC-1 chloride channels in health and diseases
Authors
Keywords
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Journal
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-05-02
DOI
10.1007/s00424-020-02376-3
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Note: Only part of the references are listed.- An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies
- (2020) Fernando Morales et al. Frontiers in Neurology
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- (2019) Giulia Maria Camerino et al. Scientific Reports
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- (2019) Chris Dupont et al. EXPERIMENTAL NEUROLOGY
- Structure of the human ClC-1 chloride channel
- (2019) Kaituo Wang et al. PLOS BIOLOGY
- Inhibition of myostatin improves muscle atrophy in oculopharyngeal muscular dystrophy (OPMD)
- (2019) Pradeep Harish et al. Journal of Cachexia Sarcopenia and Muscle
- Proof-of-concept validation of the mechanism of action of Src tyrosine kinase inhibitors in dystrophic mdx mouse muscle: in vivo and in vitro studies
- (2019) F. Sanarica et al. PHARMACOLOGICAL RESEARCH
- A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients
- (2019) Federica Montagnese et al. JOURNAL OF NEUROLOGY
- Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation
- (2019) Michael G. Thor et al. Scientific Reports
- Mapping ligand binding pockets in chloride ClC-1 channels through an integrated in silico and experimental approach using anthracene-9-carboxylic acid and niflumic acid
- (2018) C Altamura et al. BRITISH JOURNAL OF PHARMACOLOGY
- 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
- (2018) Concetta Altamura et al. HUMAN MUTATION
- Functional Rescue of Dystrophin Deficiency in Mice Caused by Frameshift Mutations Using Campylobacter jejuni Cas9
- (2018) Taeyoung Koo et al. MOLECULAR THERAPY
- CLC Chloride Channels and Transporters: Structure, Function, Physiology, and Disease
- (2018) Thomas J. Jentsch et al. PHYSIOLOGICAL REVIEWS
- Three-Dimensional Human iPSC-Derived Artificial Skeletal Muscles Model Muscular Dystrophies and Enable Multilineage Tissue Engineering
- (2018) Sara Martina Maffioletti et al. Cell Reports
- Structure of the CLC-1 chloride channel from Homo sapiens
- (2018) Eunyong Park et al. eLife
- Dual Action of Mexiletine and Its Pyrroline Derivatives as Skeletal Muscle Sodium Channel Blockers and Anti-oxidant Compounds: Toward Novel Therapeutic Potential
- (2018) Michela De Bellis et al. Frontiers in Pharmacology
- FKBP8 Enhances Protein Stability of the CLC-1 Chloride Channel at the Plasma Membrane
- (2018) Yi-Jheng Peng et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials
- (2018) Bas C. Stunnenberg et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia
- (2017) Lorenzo Maggi et al. NEUROGENETICS
- Open-label trial of ranolazine for the treatment of myotonia congenita
- (2017) W. David Arnold et al. NEUROLOGY
- Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita
- (2017) Federica Ginanneschi et al. NEUROPHYSIOLOGIE CLINIQUE-CLINICAL NEUROPHYSIOLOGY
- Chloride Channels Take Center Stage in Acute Regulation of Excitability in Skeletal Muscle: Implications for Fatigue
- (2017) Ole Bækgaard Nielsen et al. PHYSIOLOGY
- A new electro-optical approach for conductance measurement: an assay for the study of drugs acting on ligand-gated ion channels
- (2017) A. Menegon et al. Scientific Reports
- CFTR pharmacology
- (2016) Olga Zegarra-Moran et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies
- (2016) Paola Imbrici et al. FASEB JOURNAL
- Progressive Cl − channel defects reveal disrupted skeletal muscle maturation in R6/2 Huntington’s mice
- (2016) Daniel R. Miranda et al. JOURNAL OF GENERAL PHYSIOLOGY
- Role of physiological ClC-1 Cl−ion channel regulation for the excitability and function of working skeletal muscle
- (2016) Thomas Holm Pedersen et al. JOURNAL OF GENERAL PHYSIOLOGY
- Protein kinase C-dependent regulation of ClC-1 channels in active human muscle and its effect on fast and slow gating
- (2016) Anders Riisager et al. JOURNAL OF PHYSIOLOGY-LONDON
- A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes
- (2016) Hideki Kato et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β
- (2016) Yi-Jheng Peng et al. Scientific Reports
- Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery
- (2016) Paola Imbrici et al. Frontiers in Pharmacology
- Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms
- (2015) Giovanni Meola et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita
- (2015) Mauro Lo Monaco et al. CLINICAL NEUROPHYSIOLOGY
- Identification and Functional Characterization ofCLCN1Mutations Found in Nondystrophic Myotonia Patients
- (2015) Rebeca Vindas-Smith et al. HUMAN MUTATION
- ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation
- (2015) P. Imbrici et al. JOURNAL OF PHYSIOLOGY-LONDON
- Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita
- (2015) Simona Portaro et al. NEUROMOLECULAR MEDICINE
- ClC-1 chloride channels: state-of-the-art research and future challenges
- (2015) Paola Imbrici et al. Frontiers in Cellular Neuroscience
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- (2015) Yi-An Chen et al. Scientific Reports
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- (2015) Karen Joan Suetterlin et al. JAMA Neurology
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- Nondystrophic myotonia: Challenges and future directions
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- (2013) Raffaella Brugnoni et al. JOURNAL OF HUMAN GENETICS
- Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy
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- Myotonia Congenita Mutation Enhances the Degradation of Human CLC-1 Chloride Channels
- (2013) Ting-Ting Lee et al. PLoS One
- Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction
- (2013) C. W. Waters et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Molecular determinants of common gating of a ClC chloride channel
- (2013) Brett Bennetts et al. Nature Communications
- Identification of Selective Inhibitors of the Potassium Channel Kv1.1-1.2(3)by High-Throughput Virtual Screening and Automated Patch Clamp
- (2012) Sören J. Wacker et al. ChemMedChem
- Noggin recruits mesoderm progenitors from the dorsal aorta to a skeletal myogenic fate
- (2012) Gonzalo Ugarte et al. DEVELOPMENTAL BIOLOGY
- Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy
- (2012) Jean-François Desaphy et al. EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY
- Mexiletine for Symptoms and Signs of Myotonia in Nondystrophic Myotonia
- (2012) Jeffrey M. Statland JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Intracellular β-Nicotinamide Adenine Dinucleotide Inhibits the Skeletal Muscle ClC-1 Chloride Channel
- (2012) Brett Bennetts et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2
- (2012) Rosanna Cardani et al. JOURNAL OF NEUROLOGY
- Relationship between membrane Cl−conductance and contractile endurance in isolated rat muscles
- (2012) Frank Vincenzo de Paoli et al. JOURNAL OF PHYSIOLOGY-LONDON
- Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita
- (2012) Sebastian Weinberger et al. JOURNAL OF PHYSIOLOGY-LONDON
- Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients
- (2012) Gianna Ulzi et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics
- (2012) O. Raheem et al. NEUROLOGY
- Movement of hClC-1 C-termini during common gating and limits on their cytoplasmic location
- (2011) Linlin Ma et al. BIOCHEMICAL JOURNAL
- Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita
- (2011) Anna Modoni et al. JOURNAL OF CLINICAL NEUROPHYSIOLOGY
- On the localization of ClC-1 in skeletal muscle fibers
- (2011) Graham D. Lamb et al. JOURNAL OF GENERAL PHYSIOLOGY
- Relationships between resting conductances, excitability, and t-system ionic homeostasis in skeletal muscle
- (2011) James A. Fraser et al. JOURNAL OF GENERAL PHYSIOLOGY
- Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene
- (2011) María J. Mazón et al. NEUROMUSCULAR DISORDERS
- A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization
- (2011) Akira Tsujino et al. NEUROSCIENCE LETTERS
- Functional Study of CLC-1 Mutants Expressed in Xenopus Oocytes Reveals that a C-terminal Region Thr891-Ser892-Thr893 is Responsible for the Effects of Protein Kinase C Activator
- (2010) Kuang-Ming Hsiao et al. CELLULAR PHYSIOLOGY AND BIOCHEMISTRY
- Inter-subunit communication and fast gate integrity are important for common gating in hClC-1
- (2010) Jennie M. Cederholm et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- Chloride currents from the transverse tubular system in adult mammalian skeletal muscle fibers
- (2010) Marino DiFranco et al. JOURNAL OF GENERAL PHYSIOLOGY
- Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle
- (2010) John D. Lueck et al. JOURNAL OF GENERAL PHYSIOLOGY
- Lactateper seimproves the excitability of depolarized rat skeletal muscle by reducing the Cl−conductance
- (2010) Frank Vincenzo de Paoli et al. JOURNAL OF PHYSIOLOGY-LONDON
- Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1
- (2010) E. L. Logigian et al. NEUROLOGY
- Structure of a Eukaryotic CLC Transporter Defines an Intermediate State in the Transport Cycle
- (2010) Liang Feng et al. SCIENCE
- The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment
- (2009) E. Matthews et al. BRAIN
- Statins and fenofibrate affect skeletal muscle chloride conductance in rats by differently impairing ClC-1 channel regulation and expression
- (2009) S Pierno et al. BRITISH JOURNAL OF PHARMACOLOGY
- Comparison of regulated passive membrane conductance in action potential–firing fast- and slow-twitch muscle
- (2009) Thomas Holm Pedersen et al. JOURNAL OF GENERAL PHYSIOLOGY
- Regulation of ClC-1 and KATPchannels in action potential–firing fast-twitch muscle fibers
- (2009) Thomas Holm Pedersen et al. JOURNAL OF GENERAL PHYSIOLOGY
- Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy
- (2008) Minqi Hao et al. DEVELOPMENTAL DYNAMICS
- ATP Inhibition of CLC-1 Is Controlled by Oxidation and Reduction
- (2008) Xiao-Dong Zhang et al. JOURNAL OF GENERAL PHYSIOLOGY
- A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1
- (2008) P. Imbrici et al. NEUROSCIENCE
- Chloride conductance in the transverse tubular system of rat skeletal muscle fibres: importance in excitation-contraction coupling and fatigue
- (2007) T. L. Dutka et al. JOURNAL OF PHYSIOLOGY-LONDON
- F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1
- (2007) Hinni Papponen et al. MUSCLE & NERVE
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