Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Tadalafil Rescues the p.M325T Mutant of Best1 Chloride Channel.

Molecules (Basel, Switzerland) - 8 Apr 2023

Elverson Kathleen, Warwicker Jim, Freeman Sally, Manson Forbes

Abstract excerpt

Bestrophin 1 (Best1) is a chloride channel that localises to the plasma membrane of retinal pigment epithelium (RPE) cells. Mutations in the BEST1 gene are associated with a group of untreatable inherited retinal dystrophies (IRDs) called bestrophinopathies, caused by protein instability and loss-of-function of the Best1 protein. 4PBA and 2-NOAA have been shown to rescue the function, expression, and localisation...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bestrophins
Share to Chloride Channels
Share to HEK293 Cells

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Retinal Pigment Epithelium

Share to Vesicular Transport Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 37110551
DOI: 10.3390/molecules28083317
PMCID: PMC10142963

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tadalafil Rescues the p.M325T Mutant of Best1 Chloride Channel.PMID 37110551Read ↗

Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.Semantic proximity Read ↗

Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.Semantic proximity Read ↗

Bestrophin 1 and retinal disease.Semantic proximity Read ↗

Neurotransmitter-bound bestrophin channel structures reveal small molecule drug targeting sites for disease treatment.Semantic proximity Read ↗

Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations.Semantic proximity Read ↗

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.Semantic proximity Read ↗

Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.Semantic proximity Read ↗

Functional roles of bestrophins in ocular epithelia.Semantic proximity Read ↗

Bestrophin1: A Gene that Causes Many Diseases.Semantic proximity Read ↗

ATP activates bestrophin ion channels through direct interaction.Semantic proximity Read ↗

Evaluating BEST1 mutations in pluripotent stem cell-derived retinal pigment epithelial cells.Semantic proximity Read ↗

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.