Results 41 to 50 of about 11,986 (188)
Site-specific labeling of the type 1 ryanodine receptor using biarsenical fluorophores targeted to engineered tetracysteine motifs. [PDF]
PLoS ONE, 2013 The type 1 ryanodine receptor (RyR1) is an intracellular Ca(2+) release channel that mediates skeletal muscle excitation contraction coupling. While the overall shape of RyR1 has been elucidated using cryo electron microscopic reconstructions, fine ...
James D Fessenden, Mohana Mahalingam
doaj +1 more source
Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy
Cells, 2023 We report the first correction from prime editing a mutation in the RYR1 gene, paving the way to gene therapies for RYR1-related myopathies. The RYR1 gene codes for a calcium channel named Ryanodine receptor 1, which is expressed in skeletal muscle ...
Kelly Godbout +2 more
doaj +1 more source
The molecular dysregulation of excitation contraction coupling in patients with congenital muscle disorders [PDF]
, 2015 Excitation contraction coupling (ECC) is the process whereby an action potential spreading throughout the muscle membrane activates muscle contraction, by releasing Ca2+ from the Sarcoplasmic Reticulum (SR).
Rokach, Ori
core +1 more source
Structural Basis for Gating and Activation of RyR1 [PDF]
Cell, 2016 The type-1 ryanodine receptor (RyR1) is an intracellular calcium (Ca(2+)) release channel required for skeletal muscle contraction. Here, we present cryo-EM reconstructions of RyR1 in multiple functional states revealing the structural basis of channel gating and ligand-dependent activation.
Amédée, des Georges +8 more
openaire +2 more sources
Scientific Reports, 2022 RYR1 is the gene encoding the ryanodine receptor 1, a calcium release channel of the endo/sarcoplasmic reticulum. I4898T in RYR1 is one of the most common mutations that give rise to central core disease (CCD), with a variable phenotype ranging from mild
Serena Germani +5 more
doaj +1 more source
Journal of Experimental & Clinical Cancer Research, 2022 Background Uterine serous cancer (USC) is the most common non-endometrioid subtype of uterine cancer, and is also the most aggressive. Most patients will die of progressively chemotherapy-resistant disease, and the development of new therapies that can ...
Li Zhang +13 more
doaj +1 more source
EClinicalMedicineSummary: Background: RYR1-related myopathies (RYR1-RM) are caused by pathogenic variants in the RYR1 gene which encodes the type 1 ryanodine receptor (RyR1).
Joshua J. Todd +23 more
doaj +1 more source
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
Acta Neuropathologica Communications, 2021 The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca2+-dependent muscle contraction.
Valérie Biancalana +30 more
doaj +1 more source
Clinical Pharmacology &Therapeutics, EarlyView.The extent of pharmacogenetic (PGx) drug dispensing among Dutch adults receiving medications for cardiovascular disease (CVD) is unknown. Using the University of Groningen IADB.nl pharmacy database, we performed a serial cross‐sectional study (2019–2023) to estimate the annual prevalence of PGx drug dispensing and annual rates of initiation.
Zhuolin Zhang +5 more
wiley +1 more source
The physicochemical characteristics of the Longissimus lumborum muscle of crossbred pigs in relation to the CLPS and RYR1 genes polymorphism [PDF]
Journal of Central European Agriculture, 2016 The experiment was conducted on 109 F1 crossbred fatteners [(Polish Large White x Polish Landrace) x Pietrain]. The animals were slaughtered at about 105 kg of live body weight.
Hanna JANKOWIAK +2 more
doaj +1 more source