ReviewJournal of biomedicine & biotechnology2011
Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia.
Review in Journal of biomedicine & biotechnology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
25 citing papers in PubMed, 43 citations in OpenAlex.
- Mouse models of non-dystrophic and dystrophic myotonia exhibit nociplastic pain-like behaviors.bioRxiv : the preprint server for biology · 2025Article
- The role of chloride intracellular channel 4 in tumors.Cancer cell international · 2025Review
- Platinum-based metal complexes as chloride transporters that trigger apoptosis.Chemical science · 2024Article
- Chloride ions in health and disease.Bioscience reports · 2024Review
- Contractile properties and magnetic resonance imaging-assessed fat replacement of muscles in myotonia congenita.European journal of neurology · 2024Article
- Muscle channelopathies: A review.Annals of the Child Neurology Society · 2023Review
- Abundant Monovalent Ions as Environmental Signposts for Pathogens during Host Colonization.Infection and immunity · 2021Review
- Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.BMC medical genetics · 2020Article
- Guidelines on clinical presentation and management of nondystrophic myotonias.Muscle & nerve · 2020Review
- A CLC-ec1 mutant reveals global conformational change and suggests a unifying mechanism for the CLC CleLife · 2020Article
- Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita.Frontiers in neurology · 2020Review
- Changes in Expression and Cellular Localization of Rat Skeletal Muscle ClC-1 Chloride Channel in Relation to Age, Myofiber Phenotype and PKC Modulation.Frontiers in pharmacology · 2020Article
- Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders.Frontiers in neurology · 2020Article
- An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.Frontiers in neurology · 2019Review
- Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study.The Journal of physiology · 2019Article
- Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).European journal of human genetics : EJHG · 2018Article
- Dynamic properties of calcium-activated chloride currents in Xenopus laevis oocytes.Scientific reports · 2017Article
- Role of physiological ClC-1 Cl- ion channel regulation for the excitability and function of working skeletal muscle.The Journal of general physiology · 2016Review
- Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.Neuromolecular medicine · 2015Article
- 13C NMR detects conformational change in the 100-kD membrane transporter ClC-ec1.Journal of biomolecular NMR · 2015Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
The CLC-1 chloride channel, a member of the CLC-channel/transporter family, plays important roles for the physiological functions of skeletal muscles. The opening of this chloride channel is voltage dependent and is also regulated by protons and chloride ions. Mutations of the gene encoding CLC-1 result in a genetic disease, myotonia congenita, which can be inherited as an autosmal dominant (Thomsen type) or an autosomal recessive (Becker type) pattern. These mutations are scattered throughout the entire protein sequence, and no clear relationship exists between the inheritance pattern of the mutation and the location of the mutation in the channel protein. The inheritance pattern of some but not all myotonia mutants can be explained by a working hypothesis that these mutations may exert a "dominant negative" effect on the gating function of the channel. However, other mutations may be due to different pathophysiological mechanisms, such as the defect of protein trafficking to membranes. Thus, the underlying mechanisms of myotonia are likely to be quite diverse, and elucidating the pathophysiology of myotonia mutations will require the understanding of multiple molecular/cellular mechanisms of CLC-1 channels in skeletal muscles, including molecular operation, protein synthesis, and membrane trafficking mechanisms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.