eLife, 2023 Skeletal muscles are a highly structured tissue responsible for movement and metabolic regulation, which can be broadly subdivided into fast and slow twitch muscles with each type expressing common as well as specific sets of proteins.
Jan Eckhardt +7 more
doaj +1 more source
FKBP12.6 activates RyR1 : investigating the amino acid residues critical for channel modulation [PDF]
, 2014 Funding: British Heart FoundationWe have previously shown that FKBP12 associates with RyR2 in cardiac muscle and that it modulates RyR2 function differently to FKBP12.6.
Richard B. Sessions +16 more
core +1 more source
Functional effects of mutations in the skeletal muscle ryanodine receptor type 1 (RYR1) linked to malignant hyperthermia and central core disease [PDF]
, 2006 Malignant hyperthermia (MH) is a pharmacogenetic disorder with autosomal dominant inheritance. In susceptible individuals, a MH crisis may be triggered by commonly used halogenated anaesthetics (halothane, isoflurane) or muscle relaxants ...
Ducreux, Sylvie
core +1 more source
Review of RyR1 pathway and associated pathomechanisms [PDF]
Acta Neuropathologica Communications, 2016 Ryanodine receptor isoform-1 (RyR1) is a major calcium channel in skeletal muscle important for excitation-contraction coupling. Mutations in the RYR1 gene yield RyR1 protein dysfunction that manifests clinically as RYR1-related congenital myopathies (RYR1-RM) and/or malignant hyperthermia susceptibility (MHS).
Witherspoon, Jessica W. +1 more
openaire +2 more sources
Stabilization of the skeletal muscle ryanodine receptor ion channel-FKBP12 complex by the 1,4-benzothiazepine derivative S107. [PDF]
PLoS ONE, 2013 Activation of the skeletal muscle ryanodine receptor (RyR1) complex results in the rapid release of Ca(2+) from the sarcoplasmic reticulum and muscle contraction. Dissociation of the small FK506 binding protein 12 subunit (FKBP12) increases RyR1 activity
Yingwu Mei +5 more
doaj +1 more source
Calcium homeostasis and role of ryanodine receptor type 1 (RyR1) in immune cells [PDF]
, 2010 Ryanodine receptors are intracellular Ca2+ release channels located in the membrane of the Endoplasmatic/Sarcoplasmatic Reticulum. Ryanodine receptor 1 isoform is preferentially expressed in skeletal muscle where it is responsible for release of Ca2 ...
Vukcevic, Mirko
core +1 more source
Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy
Frontiers in Neurology, 2022 IntroductionNext generation sequencing results in an explosive identification of rare variants of RYR1, making the correlation between phenotype and genotype complicated.
Xingzhi Chang +8 more
doaj +1 more source
The Pore Structure of the Closed RyR1 Channel [PDF]
Structure, 2005 Using single particle electron cryomicroscopy, several helices in the membrane-spanning region of RyR1, including an inner transmembrane helix, a short pore helix, and a helix parallel to the membrane on the cytoplasmic side, have been clearly resolved.
Ludtke, Steven J. +3 more
openaire +2 more sources
Genotypic structure of micropopulations of domestic pigs at the locus of the ryanodine RYR1 receptor
, 2022 An important problem in transplant medicine is the lack of organs and tissues for human transplantation. One of the promising areas of its solution today is the use of organs and tissues of animals — xenotransplantation.
T. M. Ryk
core +1 more source
Critical role of intracellular RyR1 calcium release channels in skeletal muscle function and disease
Frontiers in Physiology, 2016 The skeletal muscle Ca2+ release channel, also known as ryanodine receptor type 1 (RyR1), is the largest ion channel protein known and is crucial for effective skeletal muscle contractile activation.
Erick Omar Hernández-Ochoa +3 more
doaj +1 more source