Kir6. 1 and SUR2B in Cantú syndrome

C McClenaghan, CG Nichols - American Journal of …, 2022 - journals.physiology.org
Kir6. 1 and SUR2 are subunits of ATP-sensitive potassium (KATP) channels expressed in a
wide range of tissues. Extensive study has implicated roles of these channel subunits in …

Bisphosphonates targeting ion channels and musculoskeletal effects

R Scala, F Maqoud, M Antonacci… - Frontiers in …, 2022 - frontiersin.org
Bisphosphonates (BPs) are the most used bone-specific anti-resorptive agents, often
chosen as first-line therapy in several bone diseases characterized by an imbalance …

[HTML][HTML] KATP channels are necessary for glucose-dependent increases in amyloid-β and Alzheimer's disease–related pathology

J Grizzanti, WR Moritz, MC Pait, M Stanley, SD Kaye… - JCI insight, 2023 - ncbi.nlm.nih.gov
Elevated blood glucose levels, or hyperglycemia, can increase brain excitability and amyloid-
β (Aβ) release, offering a mechanistic link between type 2 diabetes and Alzheimer's disease …

Vascular KATP channel structural dynamics reveal regulatory mechanism by Mg-nucleotides

MW Sung, Z Yang, CM Driggers… - Proceedings of the …, 2021 - National Acad Sciences
Vascular tone is dependent on smooth muscle KATP channels comprising pore-forming
Kir6. 1 and regulatory SUR2B subunits, in which mutations cause Cantú syndrome. Unique …

KATP channels in lymphatic function

MJ Davis, HJ Kim, CG Nichols - American Journal of …, 2022 - journals.physiology.org
KATP channels function as negative regulators of active lymphatic pumping and lymph
transport. This review summarizes and critiques the evidence for the expression of specific …

Personalized Therapeutics for KATP-Dependent Pathologies

CG Nichols - Annual review of pharmacology and toxicology, 2023 - annualreviews.org
Ubiquitously expressed throughout the body, ATP-sensitive potassium (KATP) channels
couple cellular metabolism to electrical activity in multiple tissues; their unique assembly as …

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

KW Gripp, SF Smithson, IJ Scurr, J Baptista… - European Journal of …, 2021 - nature.com
Decreased or increased activity of potassium channels caused by loss-of-function and gain-
of-function (GOF) variants in the corresponding genes, respectively, underlies a broad …

Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with KATP channel gain-of-function

MJ Davis, JA Castorena-Gonzalez, HJ Kim, M Li… - Function, 2023 - academic.oup.com
Cantú Syndrome (CS) is an autosomal dominant disorder caused by gain-of-function (GoF)
mutations in the Kir6. 1 and SUR2 subunits of KATP channels. KATP overactivity results in a …

Pathophysiological consequences of KATP channel overactivity and pharmacological response to glibenclamide in skeletal muscle of a murine model of Cantù …

R Scala, F Maqoud, N Zizzo, A Mele… - Frontiers in …, 2020 - frontiersin.org
Cantù syndrome (CS) arises from mutations in ABCC9 and KCNJ8 genes that lead to gain of
function (GOF) of ATP-sensitive potassium (KATP) channels containing SUR2A and Kir6. 1 …

A Unique High‐Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome

GK Singh, C McClenaghan, M Aggarwal… - Journal of the …, 2022 - Am Heart Assoc
Background Cardiomegaly caused by left ventricular hypertrophy is a risk factor for
development of congestive heart failure, classically associated with decreased systolic …