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

scholarly journals Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Alan D. Marmorstein ◽  
Adiv A. Johnson ◽  
Lori A. Bachman ◽  
Cynthia Andrews-Pfannkoch ◽  
Travis Knudsen ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Bestrophinopathy

scholarly journals Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Panpan Ye ◽  
Jia Xu ◽  
Yueqiu Luo ◽  
Zhitao Su ◽  
Ke Yao
Keyword(s):  
Autosomal Recessive ◽  
Metabolomic Profile ◽  
Novel Variant ◽  
Autosomal Recessive Bestrophinopathy

scholarly journals Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)

Genes ◽  
2019 ◽  
Vol 10 (12) ◽  
pp. 953 ◽  
Author(s):  
Imen Habibi ◽  
Yosra Falfoul ◽  
Margarita G. Todorova ◽  
Stefan Wyrsch ◽  
Veronika Vaclavik ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Macular Dystrophy ◽  
Phenotype Correlation ◽  
Corrected Visual Acuity ◽  
Light Rise ◽  
Autosomal Recessive Bestrophinopathy ◽  
Biallelic Mutations

Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with biallelic mutations in BEST1. Its frequency is estimated to be 1/1,000,000 individuals. Here we report 6 families and searched for a genotype-phenotype correlation. All patients were referred due to reduced best-corrected visual acuity (BCVA), ranging from 0.1/10 to 3/10. They all showed vitelliform lesions located at the macula, sometimes extending into the midperiphery, along the vessels and the optic disc. Onset of the disease varied from the age of 3 to 25 years. Electrooculogram (EOG) revealed reduction in the EOG light rise in all patients. Molecular analysis revealed previously reported mutations p.(E35K);(E35K), p.(L31M);(L31M), p.(R141H);(A195V), p.(R202W);(R202W), and p.(Q220*);(Q220*) in five families. One family showed a novel mutation: p.(E167G);(E167G). All mutations were heterozygous in the parents. In one family, heterozygous children showed various reductions in the EOG light rise and autofluorescent deposits. Autosomal recessive Bestrophinopathy (ARB), although rare, can be recognized by its phenotype and should be validated by molecular analysis. Genotype-phenotype correlations are difficult to establish and will require the analysis of additional cases.

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

Ophthalmology ◽  
2020 ◽  
Author(s):  
Giuseppe Casalino ◽  
Kamron N. Khan ◽  
Monica Armengol ◽  
Genevieve Wright ◽  
Nikolas Pontikos ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Bestrophinopathy
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