Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations

Pharmacological Chaperones: Design and Development of New Therapeutic Strategies for the Treatment of Conformational Diseases

(2016) Marino Convertino et al.   ACS Chemical Biology

Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders

(2016) Charles A. Stanley   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Structurally Distinct Ligands Rescue Biogenesis Defects of the KATPChannel Complex via a Converging Mechanism

(2015) Prasanna K. Devaraneni et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Carbamazepine inhibits ATP-sensitive potassium channel activity by disrupting channel response to MgADP

(2014) Qing Zhou et al.   Channels

Cystic fibrosis genetics: from molecular understanding to clinical application

(2014) Garry R. Cutting   NATURE REVIEWS GENETICS

Pharmacological chaperoning: A primer on mechanism and pharmacology

(2014) Nancy J. Leidenheimer et al.   PHARMACOLOGICAL RESEARCH

Carbamazepine as a Novel Small Molecule Corrector of Trafficking-impaired ATP-sensitive Potassium Channels Identified in Congenital Hyperinsulinism

(2013) Pei-Chun Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines

(2013) Heidi M Sampson et al.   Orphanet Journal of Rare Diseases

Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels

(2013) Gregory M. Martin et al.   Frontiers in Physiology

Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism

(2012) K. E. Snider et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Diazoxide-Unresponsive Congenital Hyperinsulinism in Children With Dominant Mutations of the  -Cell Sulfonylurea Receptor SUR1

(2011) C. M. MacMullen et al.   DIABETES

Conserved Intramolecular Disulfide Bond Is Critical to Trafficking and Fate of ATP-binding Cassette (ABC) Transporters ABCB6 and Sulfonylurea Receptor 1 (SUR1)/ABCC8

(2011) Yu Fukuda et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Biological and Chemical Approaches to Diseases of Proteostasis Deficiency

(2009) Evan T. Powers et al.   Annual Review of Biochemistry

Sulfonylurea Receptor 1 Mutations That Cause Opposite Insulin Secretion Defects with Chemical Chaperone Exposure

(2009) Emily B. Pratt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Update of mutations in the genes encoding the pancreatic beta-cell KATPchannel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

(2008) Sarah E. Flanagan et al.   HUMAN MUTATION