Associated Papers
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita.
Jeng CJ et al.
Frontiers in Neurology, 2020
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.
Altamura C et al.
Human Mutation, 2018
ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.
Poroca DR et al.
Frontiers in Pharmacology, 2017
A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
Wijnberg ID et al.
Neuromuscular Disorders : Nmd, 2012
Analysis of carboxyl tail function in the skeletal muscle Cl- channel hClC-1.
Ma L et al.
The Biochemical Journal, 2008
Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix.
Macías MJ et al.
The Biochemical Journal, 2007
Functional complementation of truncated human skeletal-muscle chloride channel (hClC-1) using carboxyl tail fragments.
Wu W et al.
The Biochemical Journal, 2006
Crystal structure of the cytoplasmic domain of the chloride channel ClC-0.
Meyer S et al.
Structure (london, England : 1993), 2006
Carboxy-terminal truncations modify the outer pore vestibule of muscle chloride channels.
Hebeisen S et al.
Biophysical Journal, 2005
Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression.
Simpson BJ et al.
Human Mutation, 2004
The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology.
Wagner S et al.
Muscle & Nerve, 1998
Relevance of the D13 region to the function of the skeletal muscle chloride channel, ClC-1.
Hryciw DH et al.
The Journal of Biological Chemistry, 1998
Molecular basis for decreased muscle chloride conductance in the myotonic goat.
Beck CL et al.
Proceedings of the National Academy of Sciences of the United States of America, 1996
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