CLC chloride channels and transporters: structure, function, physiology, and disease

TJ Jentsch, M Pusch - Physiological reviews, 2018 - journals.physiology.org
CLC anion transporters are found in all phyla and form a gene family of eight members in
mammals. Two CLC proteins, each of which completely contains an ion translocation …

Muscle glycogen metabolism and high-intensity exercise performance: a narrative review

JF Vigh-Larsen, N Ørtenblad, LL Spriet, K Overgaard… - Sports medicine, 2021 - Springer
Muscle glycogen is the main substrate during high-intensity exercise and large reductions
can occur after relatively short durations. Moreover, muscle glycogen is stored …

Dietary reference values for sodium

EFSA Panel on Nutrition, Novel Foods and Food … - EFSA …, 2019 - Wiley Online Library
Following a request from the European Commission, the EFSA Panel on Nutrition, Novel
Foods and Food Allergens (NDA) derived dietary reference values (DRV s) for sodium …

Myotoxicity of statins: Mechanism of action

P du Souich, G Roederer, R Dufour - Pharmacology & therapeutics, 2017 - Elsevier
Statins are effective drugs to reduce cardiovascular events secondary to dyslipidemia;
however, they cause frequent undesirable side effects. The incidence of statin-induced …

Therapeutic approaches to genetic ion channelopathies and perspectives in drug discovery

P Imbrici, A Liantonio, GM Camerino… - Frontiers in …, 2016 - frontiersin.org
In the human genome more than 400 genes encode ion channels, which are
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …

Guidelines on clinical presentation and management of nondystrophic myotonias

BC Stunnenberg, S LoRusso, WD Arnold… - Muscle & …, 2020 - Wiley Online Library
The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain‐of‐
function mutations in the SCN4A gene or loss‐of‐function mutations in the CLCN1 gene …

ClC channels and transporters: structure, physiological functions, and implications in human chloride channelopathies

DR Poroca, RM Pelis, VM Chappe - Frontiers in pharmacology, 2017 - frontiersin.org
The discovery of ClC proteins at the beginning of the 1990s was important for the
development of the Cl-transport research field. ClCs form a large family of proteins that …

Targeting neuromuscular junction to treat neuromuscular disorders

R Qaisar - Life Sciences, 2023 - Elsevier
The integrity and preservation of the neuromuscular junction (NMJ), the interface between
the motor neuron and skeletal muscle, is critical for maintaining a healthy skeletal muscle …

The Caenorhabditis elegans Excretory System: A Model for Tubulogenesis, Cell Fate Specification, and Plasticity

MV Sundaram, M Buechner - Genetics, 2016 - academic.oup.com
The excretory system of the nematode Caenorhabditis elegans is a superb model of tubular
organogenesis involving a minimum of cells. The system consists of just three unicellular …

An up-to-date overview of the complexity of genotype-phenotype relationships in myotonic channelopathies

F Morales, M Pusch - Frontiers in Neurology, 2020 - frontiersin.org
Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias
and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive …