ArticleScientific reports2015
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 22 citations in OpenAlex.
- Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.Frontiers in genetics · 2024Article
- ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.Biomedicines · 2023Review
- Vesicular glutamate transporters are HNature communications · 2023Article
- Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.Journal of neuromuscular diseases · 2023Article
- Functional Characterization ofFrontiers in molecular neuroscience · 2022Article
- 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.Molecular genetics & genomic medicine · 2021Article
- Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita.Frontiers in neurology · 2020Review
- Pathomechanisms of aFrontiers in neurology · 2020Article
- An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.Frontiers in neurology · 2019Review
- Loss-of-function of Nav1.8/D1639N linked to human pain can be rescued by lidocaine.Pflugers Archiv : European journal of physiology · 2018Article
- FKBP8 Enhances Protein Stability of the CLC-1 Chloride Channel at the Plasma Membrane.International journal of molecular sciences · 2018Article
- Cereblon Maintains Synaptic and Cognitive Function by Regulating BK Channel.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Barttin Regulates the Subcellular Localization and Posttranslational Modification of Human ClFrontiers in physiology · 2018Article
- Preferential association with ClC-3 permits sorting of ClC-4 into endosomal compartments.The Journal of biological chemistry · 2017Article
- Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact.Frontiers in physiology · 2017Article
- Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β.Scientific reports · 2016Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the muscle chloride channel gene (CLCN1) cause myotonia congenita, an inherited condition characterized by muscle stiffness upon sudden forceful movement. We here studied the functional consequences of four disease-causing mutations that predict amino acid substitutions Q43R, S70L, Y137D and Q160H. Wild-type (WT) and mutant hClC-1 channels were heterologously expressed as YFP or CFP fusion protein in HEK293T cells and analyzed by whole-cell patch clamp and fluorescence recordings on individual cells. Q43R, Y137D and Q160H, but not S70L reduced macroscopic current amplitudes, but left channel gating and unitary current amplitudes unaffected. We developed a novel assay combining electrophysiological and fluorescence measurements at the single-cell level in order to measure the probability of ion channel surface membrane insertion. With the exception of S70L, all tested mutations significantly reduced the relative number of homodimeric hClC-1 channels in the surface membrane. The strongest effect was seen for Q43R that reduced the surface insertion probability by more than 99% in Q43R homodimeric channels and by 92 ± 3% in heterodimeric WT/Q43R channels compared to homodimeric WT channels. The new method offers a sensitive approach to investigate mutations that were reported to cause channelopathies, but display only minor changes in ion channel function.
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