Results 11 to 20 of about 1,671,679 (262)

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family

open access: yesFrontiers in Genetics, 2023
Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene encoding skeletal muscle chloride channels. MC is characterized by delayed muscle relaxation during contraction, resulting in muscle stiffness.
Nurul Huda Musa   +16 more
doaj   +1 more source

High conductance anion channel in Schwann cell vesicles from rat spinal roots [PDF]

open access: yes, 1992
Potassium uptake, possibly together with chloride, is one of the presumed functions of Schwann cells in the peripheral nervous system. However, the presence of chloride channels has not been demonstrated in adult Schwann cells.
Quasthoff, Stefan   +5 more
core   +1 more source

Molecular mechanisms of Cys-loop ion channel receptor modulation by ivermectin

open access: yesFrontiers in Molecular Neuroscience, 2012
Ivermectin is a gold standard anthelmintic drug that works by potently depressing neuronal activity and muscular contractility in arthropods and nematodes. At the molecular level, ivermectin activates inhibitory glutamate-gated chloride channels (GluClRs)
Timothy eLynagh, Joe eLynch
doaj   +1 more source

Chloride – The Underrated Ion in Nociceptors

open access: yesFrontiers in Neuroscience, 2020
In contrast to pain processing neurons in the spinal cord, where the importance of chloride conductances is already well established, chloride homeostasis in primary afferent neurons has received less attention.
Bettina U. Wilke   +3 more
doaj   +1 more source

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations [PDF]

open access: yes, 2004
CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to be regulatory, their exact functions have been unknown.
John W. Scott   +20 more
core   +1 more source

Roles of the ClC chloride channel CLH-1 in food-associated salt chemotaxis behavior of C. elegans

open access: yeseLife, 2021
The ability of animals to process dynamic sensory information facilitates foraging in an ever-changing environment. However, molecular and neural mechanisms underlying such ability remain elusive.
Chanhyun Park   +5 more
doaj   +1 more source

The inhibition of chloride intracellular channel 1 enhances Ca2+ and reactive oxygen species signaling in A549 human lung cancer cells

open access: yesExperimental and Molecular Medicine, 2019
Cancer: chloride transport protein protects tumors A chloride channel, a membrane protein involved in chloride transport, indirectly regulates calcium signaling to protect cancer cells from free radicals and DNA damage.
Jae-Rin Lee   +5 more
doaj   +1 more source

Structure and function of the cystic fibrosis transmembrane conductance regulator

open access: yesBrazilian Journal of Medical and Biological Research, 1999
Cystic fibrosis (CF) is a lethal autosomal recessive genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR). Mutations in the CFTR gene may result in a defective processing of its protein and alter the function and ...
M.M. Morales, M.A.M. Capella, A.G. Lopes
doaj   +1 more source

Strict coupling between CFTR's catalytic cycle and gating of its Cl- ion pore revealed by distributions of open channel burst durations [PDF]

open access: yes, 2010
CFTR, the ABC protein defective in cystic fibrosis, functions as an anion channel. Once phosphorylated by protein kinase A, a CFTR channel is opened and closed by events at its two cytosolic nucleotide binding domains (NBDs).
Gadsby, David C.   +5 more
core   +1 more source

Cystic fibrosis transmembrane conductance regulator (CFTR): Making an ion channel out of an active transporter structure

open access: yesChannels, 2018
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR is a member of the ATP-binding cassette (ABC) family of membrane transport proteins, most members of which function as ATP-dependent pumps ...
Paul Linsdell
doaj   +1 more source

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