Channelopathies of skeletal muscle excitability
Familial disorders of skeletal muscle excitability were initially described early in the last
century and are now known to be caused by mutations of voltage-gated ion channels. The …
century and are now known to be caused by mutations of voltage-gated ion channels. The …
Therapeutic approaches to genetic ion channelopathies and perspectives in drug discovery
In the human genome more than 400 genes encode ion channels, which are
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …
Mechanism of thyrotoxic periodic paralysis
The pathogenesis of thyrotoxic periodic paralysis has long been thought related to
increased Na+–K+ ATPase activity stimulated by thyroid hormone and/or hyperadrenergic …
increased Na+–K+ ATPase activity stimulated by thyroid hormone and/or hyperadrenergic …
Inwardly rectifying potassium channel Kir2. 1 and its “Kir-ious” regulation by protein trafficking and roles in development and disease
Potassium (K+) homeostasis is tightly regulated for optimal cell and organismal health.
Failure to control potassium balance results in disease, including cardiac arrythmias and …
Failure to control potassium balance results in disease, including cardiac arrythmias and …
A 10-year analysis of thyrotoxic periodic paralysis in 135 patients: focus on symptomatology and precipitants
Background A comprehensive analysis has not been performed on patients with thyrotoxic
periodic paralysis (TPP) characterized by acute hypokalemia and paralysis in the setting of …
periodic paralysis (TPP) characterized by acute hypokalemia and paralysis in the setting of …
Extracellular potassium homeostasis: insights from hypokalemic periodic paralysis
Extracellular potassium makes up only about 2% of the total body's potassium store. The
majority of the body potassium is distributed in the intracellular space, of which about 80% is …
majority of the body potassium is distributed in the intracellular space, of which about 80% is …
[Retracted] Thyrotoxic Periodic Paralysis: Clinical Challenges
A Vijayakumar, G Ashwath… - Journal of thyroid …, 2014 - Wiley Online Library
Thyrotoxic periodic paralysis (TPP), a disorder most commonly seen in Asian men, is
characterized by abrupt onset of hypokalemia and paralysis. The condition primarily affects …
characterized by abrupt onset of hypokalemia and paralysis. The condition primarily affects …
[HTML][HTML] Ion channel gene mutations causing skeletal muscle disorders: pathomechanisms and opportunities for therapy
Skeletal muscle ion channelopathies (SMICs) are a large heterogeneous group of rare
genetic disorders caused by mutations in genes encoding ion channel subunits in the …
genetic disorders caused by mutations in genes encoding ion channel subunits in the …
Probing ion channel functional architecture and domain recombination compatibility by massively parallel domain insertion profiling
Protein domains are the basic units of protein structure and function. Comparative analysis
of genomes and proteomes showed that domain recombination is a main driver of …
of genomes and proteomes showed that domain recombination is a main driver of …
Periodic paralysis
The periodic paralyses are a group of skeletal muscle channelopathies characterizeed by
intermittent attacks of muscle weakness often associated with altered serum potassium …
intermittent attacks of muscle weakness often associated with altered serum potassium …