[HTML][HTML] Calcium intake, calcium homeostasis and health

F Pu, N Chen, S Xue - Food Science and Human Wellness, 2016 - Elsevier
Calcium, as the most abundant mineral in human body, is involved in many physiological
and pathological processes. Here, we reviewed the key mechanisms of calcium …

A guide to the 3D structure of the ryanodine receptor type 1 by cryoEM

M Samsó - Protein Science, 2017 - Wiley Online Library
Signal transduction by the ryanodine receptor (RyR) is essential in many excitable cells
including all striated contractile cells and some types of neurons. While its transmembrane …

Structural mechanism of two gain-of-function cardiac and skeletal RyR mutations at an equivalent site by cryo-EM

KA Iyer, Y Hu, AR Nayak, N Kurebayashi… - Science …, 2020 - science.org
Mutations in ryanodine receptors (RyRs), intracellular Ca2+ channels, are associated with
deadly disorders. Despite abundant functional studies, the molecular mechanism of RyR …

Altered Ca2+ Kinetics Associated with α-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human Evolution

SI Head, S Chan, PJ Houweling, KGR Quinlan… - PLoS …, 2015 - journals.plos.org
Over 1.5 billion people lack the skeletal muscle fast-twitch fibre protein α-actinin-3 due to
homozygosity for a common null polymorphism (R577X) in the ACTN3 gene. α-Actinin-3 …

Interplay between Mg2+ and Ca2+ at multiple sites of the ryanodine receptor

AR Nayak, W Rangubpit, AH Will, Y Hu… - Nature …, 2024 - nature.com
RyR1 is an intracellular Ca2+ channel important in excitable cells such as neurons and
muscle fibers. Ca2+ activates it at low concentrations and inhibits it at high concentrations …

Design of calcium-binding proteins to sense calcium

S Tang, X Deng, J Jiang, M Kirberger, JJ Yang - Molecules, 2020 - mdpi.com
Calcium controls numerous biological processes by interacting with different classes of
calcium binding proteins (CaBP's), with different affinities, metal selectivities, kinetics, and …

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy

N Kraeva, L Heytens, H Jungbluth, S Treves… - Neuromuscular …, 2015 - Elsevier
Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic myopathy triggered by
exposure to volatile anesthetics and/or depolarizing muscle relaxants. Susceptibility to MH is …

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

V Biancalana, J Rendu, A Chaussenot, H Mecili… - Acta Neuropathologica …, 2021 - Springer
The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca 2+ channel in skeletal
muscle and acts as a connecting link between electrical stimulation and Ca 2+-dependent …

RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families

A Zullo, G Perrotta, RD′ Angelo… - BioMed Research …, 2019 - Wiley Online Library
The skeletal muscle ryanodine receptor (RyR1), ie, the Ca2+ channel of the
sarco/endoplasmic reticulum (S/ER), and the voltage‐dependent calcium channel Cav1. 1 …

Functional and structural characterization of a novel malignant hyperthermia-susceptible variant of DHPR-β1a subunit (CACNB1)

CF Perez, JM Eltit, JR Lopez… - … of Physiology-Cell …, 2018 - journals.physiology.org
Malignant hyperthermia (MH) susceptibility has been recently linked to a novel variant of
β1a subunit of the dihydropyridine receptor (DHPR), a channel essential for Ca2+ regulation …