A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

FL Fernandes-Rosa, G Daniil, IJ Orozco, C Göppner… - Nature …, 2018 - nature.com
Primary aldosteronism is the most common and curable form of secondary arterial
hypertension. We performed whole-exome sequencing in patients with early-onset primary …

Cryo-EM structures of ClC-2 chloride channel reveal the blocking mechanism of its specific inhibitor AK-42

T Ma, L Wang, A Chai, C Liu, W Cui, S Yuan… - Nature …, 2023 - nature.com
ClC-2 transports chloride ions across plasma membranes and plays critical roles in cellular
homeostasis. Its dysfunction is involved in diseases including leukodystrophy and primary …

Confirmation of cause of death via comprehensive autopsy and whole exome molecular sequencing in people with epilepsy and sudden unexpected death

CAA Chahal, DJ Tester, AU Fayyaz… - Journal of the …, 2021 - Am Heart Assoc
Background Sudden cardiac arrest is the leading mode of death in the United States.
Epilepsy affects 1% of Americans; yet epidemiological data show a prevalence of 4% in …

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy

C Saint‐Martin, G Gauvain, G Teodorescu… - Human …, 2009 - Wiley Online Library
Heterozygous mutations in the CLCN2 gene encoding the voltage‐gated chloride channel
CLC2 have been identified in patients with idiopathic generalized epilepsy (IGE). Yet the …

CryoEM structures of the human CLC-2 voltage-gated chloride channel reveal a ball-and-chain gating mechanism

M Xu, T Neelands, AS Powers, Y Liu, SD Miller… - Elife, 2024 - elifesciences.org
CLC-2 is a voltage-gated chloride channel that contributes to electrical excitability and ion
homeostasis in many different tissues. Among the nine mammalian CLC homologs, CLC-2 …

PIKfyve-dependent regulation of the Cl− channel ClC-2

F Klaus, J Laufer, K Czarkowski… - Biochemical and …, 2009 - Elsevier
The widely expressed chloride channel ClC-2 is stimulated by the serum and glucocorticoid
inducible kinase SGK1. The SGK1-dependent regulation of several carriers involves the …

Regulation of the Na+-coupled glutamate transporter EAAT3 by PIKfyve

F Klaus, EM Gehring, A Zürn, J Laufer, R Lindner… - Neurochemistry …, 2009 - Elsevier
The Na+, glutamate cotransporter EAAT3 is expressed in a wide variety of tissues. It
accomplishes transepithelial transport and the cellular uptake of acidic amino acids …

ClC-2 channels in erythrocytes

E Shumilina, SM Huber - The Open Biology Journal, 2011 - benthamopen.com
ClC-2 is a ubiquitously expressed plasma membrane Cl-channel that reportedly controls the
ionic environment in mouse retina and testis. Beyond that, ClC-2 might sense cellular …

[图书][B] Role of ClC-2 and NHE transport proteins in intestinal mucosal barrier

PK Nighot - 2008 - search.proquest.com
The intestinal mucosal barrier is critical to prevent the invasion of the host by pathogens and
toxic products that are present in the intestinal lumen. We studied the role of membrane ion …

[图书][B] Role of ClC-2 and MAPK in Gastric Barrier Function

MP Nighot - 2012 - search.proquest.com
The gastric barrier is composed of a single layer of columnar epithelium, mucus and
bicarbonate layer, and the intraepithelial tight junctions residing at the apical-most region of …