Identification of chemical and pharmacological chaperones for correction of trafficking- deficient mutant CNGA3 channels

No abstract is available for this paper.

• Publication year

  2021

• Venue

  Unknown venue

• Publication date

  Unknown publication date

• Fields of study

  Not labeled

• Identifiers

  No identifiers available.

• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• A pharmacological chaperone improves memory by reducing Aβ and tau neuropathology in a mouse model with plaques and tangles

  2020cited by this paper
• HSP60/10 chaperonin systems are inhibited by a variety of approved drugs, natural products, and known bioactive molecules.

  2019cited by this paper
• Characterization of drug binding within the HCN1 channel pore

  2019cited by this paper
• Dietary Nutrients and Bioactive Substances Modulate Heat Shock Protein (HSP) Expression: A Review

  2018cited by this paper
• Effects of Chemical Chaperones on Thyroid Hormone Transport by MCT8 Mutants in Patient-Derived Fibroblasts

  2018cited by this paper
• An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation

  2018cited by this paper
• Drug Screening Identifies Sigma-1-Receptor as a Target for the Therapy of VWM Leukodystrophy

  2018cited by this paper
• How Frequently Are Pan-Assay Interference Compounds Active? Large-Scale Analysis of Screening Data Reveals Diverse Activity Profiles, Low Global Hit Frequency, and Many Consistently Inactive Compounds.

  2017cited by this paper
• Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II.

  2017cited by this paper
• Systematic Identification of MCU Modulators by Orthogonal Interspecies Chemical Screening.

  2017cited by this paper
• Screening out irrelevant cell-based models of disease

  2016cited by this paper
• Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria

  2016cited by this paper
• Alterations in membrane trafficking and pathophysiological implications in lysosomal storage disorders.

  2016cited by this paper
• Classification of chemical chaperones based on their effect on protein folding landscapes.

  2015cited by this paper
• Development and Validation of a Novel Leishmania donovani Screening Cascade for High-Throughput Screening Using a Novel Axenic Assay with High Predictivity of Leishmanicidal Intracellular Activity

  2015cited by this paper
• Structural Basis for Pharmacology of Voltage-Gated Sodium and Calcium Channels

  2015cited by this paper
• Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

  2015cited by this paper
• Achromatopsia: a review

  2015cited by this paper
• Protein quality control in the endoplasmic reticulum

  2014cited by this paper
• The role of the cytosolic HSP70 chaperone system in diseases caused by misfolding and aberrant trafficking of ion channels

  2014cited by this paper
• Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.

  2014cited by this paper
• Rescue of defective MC4R cell-surface expression and signaling by a novel pharmacoperone Ipsen 17.

  2014cited by this paper
• Pharmacological chaperoning: a primer on mechanism and pharmacology.

  2014cited by this paper
• Protein trafficking defects in inherited kidney diseases.

  2014cited by this paper
• Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy

  2014cited by this paper
• Using pharmacological chaperones to restore proteostasis.

  2014cited by this paper
• Endoplasmic reticulum stress in amelogenesis imperfecta and phenotypic rescue using 4-phenylbutyrate

  2013cited by this paper
• Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness.

  2013cited by this paper
• A High-Throughput Assay for Connexin 43 (Cx43, GJA1) Gap Junctions Using Codon-Optimized Aequorin

  2013cited by this paper
• Analysis of Pseudoxanthoma Elasticum-Causing Missense Mutants of ABCC6 in vivo; Pharmacological Correction of the Mislocalized Proteins

  2013cited by this paper
• A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.

  2012cited by this paper
• Chemical chaperone TUDCA preserves cone photoreceptors in a mouse model of Leber congenital amaurosis.

  2012cited by this paper
• ER stress is involved in T17M rhodopsin-induced retinal degeneration.

  2012cited by this paper
• Defective trafficking of cone photoreceptor CNG channels induces the unfolded protein response and ER-stress-associated cell death.

  2012influential reference
• Molecular mechanism for 3:1 subunit stoichiometry of rod cyclic nucleotide-gated ion channels

  2011cited by this paper
• A Pharmacogenetic Approach to Identify Mutant Forms of α-Galactosidase A that Respond to a Pharmacological Chaperone for Fabry Disease

  2011cited by this paper
• Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease.

  2010cited by this paper
• Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide‐gated channel

  2010cited by this paper
• Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit.

  2010cited by this paper
• The disease-causing mutations in the carboxyl terminus of the cone cyclic nucleotide-gated channel CNGA3 subunit alter the local secondary structure and interfere with the channel active conformational change.

  2010cited by this paper
• Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells.

  2009cited by this paper
• Drug development and the cellular quality control system.

  2009cited by this paper
• A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

  2009cited by this paper
• Calcium-sensitive photoproteins.

  2008cited by this paper
• Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide‐gated channels, resulting in achromatopsia

  2008influential reference
• Protein misfolding in conformational disorders: rescue of folding defects and chemical chaperoning.

  2008cited by this paper
• Development of an Aequorin Luminescence Calcium Assay for High-Throughput Screening Using a Plate Reader, the LumiLux

  2008cited by this paper
• Molecular determinants of hERG channel block by terfenadine and cisapride.

  2008cited by this paper
• Niemann-Pick Type C1 I1061T Mutant Encodes a Functional Protein That Is Selected for Endoplasmic Reticulum-associated Degradation Due to Protein Misfolding*

  2008cited by this paper
• The structure-activity relationship study on 2-, 5-, and 6-position of the water soluble 1,4-dihydropyridine derivatives blocking N-type calcium channels.

  2008cited by this paper
• Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.

  2007cited by this paper
• Molecular Mapping of the Binding Site for a Blocker of Hyperpolarization-Activated, Cyclic Nucleotide-Modulated Pacemaker Channels

  2007cited by this paper
• Molecular regulation and pharmacology of pacemaker channels.

  2007cited by this paper
• Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel.

  2005cited by this paper
• A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder

  2005cited by this paper
• Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit.

  2005cited by this paper
• Cone cGMP‐gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases

  2005cited by this paper
• Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

  2004cited by this paper
• Molecular Basis of an Inherited Form of Incomplete Achromatopsia

  2004cited by this paper
• Cellular Processing of Cone Photoreceptor Cyclic GMP-gated Ion Channels

  2004cited by this paper
• Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.

  2003cited by this paper
• Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.

  2002cited by this paper
• Cyclic nucleotide-gated ion channels.

  2002cited by this paper
• Induction of HSP70 promotes DeltaF508 CFTR trafficking.

  2001cited by this paper
• Partial restoration of defective chloride conductance in DeltaF508 CF mice by trimethylamine oxide.

  2001cited by this paper
• Chemical Chaperones Regulate Molecular Chaperones in Vitro and in Cells under Combined Salt and Heat Stresses*

  2001cited by this paper
• Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

  2000cited by this paper
• Defects in processing and trafficking of the cystic fibrosis transmembrane conductance regulator.

  2000cited by this paper
• Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones.

  1998cited by this paper
• Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel

  1998cited by this paper
• Identification of Amino Acid Residues in the α, β, and γ Subunits of the Epithelial Sodium Channel (ENaC) Involved in Amiloride Block and Ion Permeation

  1997cited by this paper
• Glycerol Reverses the Misfolding Phenotype of the Most Common Cystic Fibrosis Mutation (*)

  1996cited by this paper
• Identification of binding sites for calcium channel antagonists.

  1996cited by this paper

• Amyloidogenic immunoglobulin light chain kinetic stabilizers comprising a simple urea linker module reveal a novel binding sub-site.

  2022cites this paper
• Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

  2022cites this paper
• Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families

  2022cites this paper
• Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia

  2021cites this paper
• Achromatopsia: Genetics and Gene Therapy

  2021cites this paper