scholarly journals Mutations associated with epileptic encephalopathy modify EAAT2 anion channel function

Epilepsia ◽  
2021 ◽  
Author(s):  
Peter Kovermann ◽  
Yulia Kolobkova ◽  
Arne Franzen ◽  
Christoph Fahlke
Keyword(s):  
Anion Channel ◽  
Epileptic Encephalopathy ◽  
Channel Function

Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage‐gated sodium channel function

Epilepsia ◽  
2021 ◽  
Author(s):  
Marcello Scala ◽  
Stephanie Efthymiou ◽  
Tipu Sultan ◽  
Jolien De Waele ◽  
Marta Panciroli ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epileptic Encephalopathy ◽  
Voltage Gated Sodium Channel ◽  
Voltage Gated ◽  
Channel Function

V28. KCNA2 mutations cause epileptic encephalopathy by gain- or loss-of channel function

2015 ◽  
Vol 126 (8) ◽  
pp. e80
Author(s):  
U.B.S. Hedrich ◽  
S. Syrbe ◽  
E. Riesch ◽  
T. Djémié ◽  
S. Müller ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Channel Function

scholarly journals Effects of Chromogranin A and B Association on the Anion Channel Function in the Regulated Secretory Pathway

2019 ◽  
Vol 116 (3) ◽  
pp. 63a
Author(s):  
Sutonuka Bhar ◽  
Gaya P. Yadav ◽  
Mahesh S. Chandak ◽  
Qiu-Xing Jiang
Keyword(s):  
Chromogranin A ◽  
Secretory Pathway ◽  
Anion Channel ◽  
Channel Function ◽  
Regulated Secretory Pathway

scholarly journals SLAC1 is required for plant guard cell S-type anion channel function in stomatal signalling

Nature ◽  
2008 ◽  
Vol 452 (7186) ◽  
pp. 487-491 ◽  
Author(s):  
Triin Vahisalu ◽  
Hannes Kollist ◽  
Yong-Fei Wang ◽  
Noriyuki Nishimura ◽  
Wai-Yin Chan ◽  
...  
Keyword(s):  
Guard Cell ◽  
Anion Channel ◽  
Channel Function

scholarly journals Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity

2020 ◽  
Vol 295 (49) ◽  
pp. 16529-16544 ◽  
Author(s):  
Stella Prins ◽  
Emily Langron ◽  
Cato Hastings ◽  
Emily J. Hill ◽  
Andra C. Stefan ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Plasma Membrane ◽  
Ion Channel ◽  
Molecular Mechanisms ◽  
Anion Channel ◽  
Fluorescence Assay ◽  
Fluid Loss ◽  
Published Data ◽  
Channel Function ◽  
Drug Classes

The cystic fibrosis transmembrane conductance regulator (CFTR) is a plasma membrane anion channel that plays a key role in controlling transepithelial fluid movement. Excessive activation results in intestinal fluid loss during secretory diarrheas, whereas CFTR mutations underlie cystic fibrosis (CF). Anion permeability depends both on how well CFTR channels work (permeation/gating) and on how many are present at the membrane. Recently, treatments with two drug classes targeting CFTR—one boosting ion-channel function (potentiators) and the other increasing plasma membrane density (correctors)—have provided significant health benefits to CF patients. Here, we present an image-based fluorescence assay that can rapidly and simultaneously estimate both CFTR ion-channel function and the protein's proximity to the membrane. We monitor F508del-CFTR, the most common CF-causing variant, and confirm rescue by low temperature, CFTR-targeting drugs and second-site revertant mutation R1070W. In addition, we characterize a panel of 62 CF-causing mutations. Our measurements correlate well with published data (electrophysiology and biochemistry), further confirming validity of the assay. Finally, we profile effects of acute treatment with approved potentiator drug VX-770 on the rare-mutation panel. Mapping the potentiation profile on CFTR structures raises mechanistic hypotheses on drug action, suggesting that VX-770 might allow an open-channel conformation with an alternative arrangement of domain interfaces. The assay is a valuable tool for investigation of CFTR molecular mechanisms, allowing accurate inferences on gating/permeation. In addition, by providing a two-dimensional characterization of the CFTR protein, it could better inform development of single-drug and precision therapies addressing the root cause of CF disease.

scholarly journals Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a NovelBEST1Mutation

2015 ◽  
Vol 56 (8) ◽  
pp. 4619 ◽  
Author(s):  
Adiv A. Johnson ◽  
Lori A. Bachman ◽  
Benjamin J. Gilles ◽  
Samuel D. Cross ◽  
Kimberly E. Stelzig ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Anion Channel ◽  
Channel Function ◽  
Autosomal Recessive Bestrophinopathy
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