Abstract：
:Ryanodine receptors plays a crucial role in skeletal muscle excitation-contraction coupling by releasing calcium ions required for muscle contraction from the sarcoplasmic reticulum. At least three phenotypes associated with more than 100 RYR1 mutations have been identified; in order to elucidate possible pathophysiological mechanisms of RYR1 mutations linked to neuromuscular disorders, it is essential to define the mutation class by studying the functional properties of channels harbouring clinically relevant amino acid substitutions. In the present report we investigated the functional effects of the c.7304G>T RYR1 substitution (p.Arg2435Leu) found in a patient affected by central core disease. Both parents were heterozygous for the substitution while the proband was homozygous. We characterized Ca(2+) homeostasis in myoD transduced myotubes from controls, the heterozygous parents and the homozygous proband expressing the endogenous mutation. We also expressed the recombinant mutant channels in heterologous cells and characterized their [(3)H]ryanodine binding and single channel properties. Our results show that the p.Arg2435Leu substitution affects neither the resting [Ca(2+)], nor the sensitivity of the ryanodine receptor to pharmacological activators, but rather reduces the release of Ca(2+) from intracellular stores induced by pharmacological activators as well as by KCl via the voltage sensing dihydropyridine receptor.
journal_name
Cell Calciumjournal_title
Cell calciumauthors
Ghassemi F,Vukcevic M,Xu L,Zhou H,Meissner G,Muntoni F,Jungbluth H,Zorzato F,Treves Sdoi
10.1016/j.ceca.2008.10.001subject
Has Abstractpub_date
2009-02-01 00:00:00pages
192-7issue
2eissn
0143-4160issn
1532-1991pii
S0143-4160(08)00151-6journal_volume
45pub_type
杂志文章相关文献
CELL CALCIUM文献大全abstract：:TRP family of proteins are components of unique cation channels that are activated in response to diverse stimuli ranging from growth factor and neurotransmitter stimulation of plasma membrane receptors to a variety of chemical and sensory signals. This review will focus on members of the TRPC sub-family (TRPC1-TRPC7)...
journal_title：Cell calcium
pub_type： 杂志文章,评审
doi：10.1016/j.ceca.2006.08.011
更新日期：2006-11-01 00:00:00
abstract：:We have previously demonstrated that bradykinin potentiates prostaglandin E(2)release in human gingival fibroblasts pretreated with interleukin-1 beta (priming). In this study, we demonstrate a potentiating effect of bradykinin on cyclooxygenase-2 mRNA expression in the interleukin-1 beta-primed fibroblasts. Interleuk...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1054/ceca.2001.0206
更新日期：2001-06-01 00:00:00
abstract：:The mitochondrial permeability transition pore (mPTP) has long been known to have a role in mitochondrial calcium (Ca(2+)) homeostasis under pathological conditions as a mediator of the mitochondrial permeability transition and the activation of the consequent cell death mechanism. However, its role in the context of ...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/j.ceca.2014.03.004
更新日期：2014-07-01 00:00:00
abstract：:Ca(2+) influx through voltage-gated Ca(2+) channels triggers the release of neurotransmitters at presynaptic terminals. Some sensory receptor cells in the peripheral auditory and visual systems have specialized synapses that express an electron-dense organelle called a synaptic ribbon. Like conventional synapses, ribb...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/j.ceca.2012.06.004
更新日期：2012-09-01 00:00:00
abstract：:Intracellular Ca(2+) signals are essential for stem cell differentiation due to their ability to control signaling pathways involved in this process. Arginine vasopression (AVP) is a neurohypophyseal hormone that increases intracellular Ca(2+) concentration during adipogenesis via V1a receptors, Gq-proteins and the PL...
journal_title：Cell calcium
pub_type： 杂志文章,评审
doi：10.1016/j.ceca.2015.12.006
更新日期：2016-03-01 00:00:00
abstract：:The release of Ca2+ ions from the sarcoplasmic reticulum through ryanodine receptor calcium release channels represents the critical step linking electrical excitation to muscular contraction in the heart and skeletal muscle (excitation-contraction coupling). Two small Ca2+ binding proteins, S100A1 and calmodulin, hav...
journal_title：Cell calcium
pub_type： 杂志文章,评审
doi：10.1016/j.ceca.2011.06.001
更新日期：2011-10-01 00:00:00
abstract：:Using the fluorescent Ca2+ probe Quin-2 it has been reported that cholera toxin (CT) and its B subunit (B-CT) increase cytosolic free Ca2+ concentration ([Ca2+]i) in entherocytes, thymocytes and fibroblasts. In this work we show, however, that the fluorescence increases of Quin-2-loaded cells (rat thymocytes, mouse sp...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/0143-4160(90)90054-x
更新日期：1990-06-01 00:00:00
abstract：:Turnover of the cartilage extracellular matrix depends exclusively on chondrocytes and varies in response to load and osmolarity fluctuations. Obesity can affect chondrocyte physiology; adipokines, insulin and proinflammatory cytokines levels are all altered in the obese and are related to matrix turnover impairments ...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/j.ceca.2014.10.006
更新日期：2014-12-01 00:00:00
abstract：:Smooth muscle contraction is regulated by changes in cytosolic Ca(2+) concentration ([Ca(2+)](i)). In response to stimulation, Ca(2+) increase in a single cell can propagate to neighbouring cells through gap junctions, as intercellular Ca(2+) waves. To investigate the mechanisms underlying Ca(2+) wave propagation betw...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/j.ceca.2011.08.001
更新日期：2011-11-01 00:00:00
abstract：:Pituitary neuropeptide oxytocin is increasingly recognised as a cardiovascular hormone, in addition to its many regulatory roles in other organ systems. Studies in atrial and ventricular myocytes from the neonatal and adult rats have identified synthesis of oxytocin and the expression of oxytocin receptors in these ce...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/j.ceca.2019.102099
更新日期：2019-12-01 00:00:00
abstract：:The surface dynamics of neurotransmitter receptors and transporters, as well as ion channels, has been well-documented in neurons, revealing complex molecular behaviour and key physiological functions. However, our understanding of the membrane trafficking and dynamics of the signalling molecules located at the plasma...
journal_title：Cell calcium
pub_type： 杂志文章,评审
doi：10.1016/j.ceca.2017.08.009
更新日期：2017-11-01 00:00:00
abstract：:R24571 a derivative of the antimycotic miconazole, appears to be 5 to 8 times more potent than trifluoperazine in its ability to inhibit the calmodulin-dependent phosphorylation of cardiac sarcoplasmic reticulum vesicles. The cAMP-dependent protein kinase mediated phosphorylation of cardiac sarcoplasmic reticulum was ...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/0143-4160(83)90039-8
更新日期：1983-04-01 00:00:00
abstract：:It is well established that intracellular calcium ([Ca2+]i) controls the inotropic state of the myocardium, and evidence mounts that a "Ca2+ clock" controls the chronotropic state of the heart. Recent findings describe a calcium-activated nonselective cation channel (NSCCa) in various cardiac preparations sharing hall...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/j.ceca.2013.06.003
更新日期：2013-09-01 00:00:00
abstract：:Incubation of human erythrocyte ghosts with an equal volume of 0.2 mM EDTA in isotonic KCl decreased both the activity and Ca2+ sensitivity of the (Ca2+ + Mg2+)-ATPase remaining associated with the membrane. Readdition of the EDTA-extract activated the (Ca2+ + Mg2+)-ATPase activity. The activator activity was trypsin ...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/0143-4160(84)90156-8
更新日期：1984-02-01 00:00:00
abstract：:Mitochondrial Ca(2+) activates many processes, from mitochondrial metabolism to opening of the permeability transition pore (PTP) and apoptosis. However, there is considerable controversy regarding the free mitochondrial [Ca(2+)] ([Ca(2+)](M)) levels that can be attained during cell activation or even in mitochondrial...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/j.ceca.2008.10.007
更新日期：2009-03-01 00:00:00
abstract：:Photolysis of caged calcium (Nitr5, Calbiochem) can be used to study calcium dependent processes such as excitation-contraction coupling and muscular mechanics. Expensive high energy light sources are routinely used for UV light exposure, but this study describes an alternative low cost xenon flash unit constructed in...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/0143-4160(94)90017-5
更新日期：1994-05-01 00:00:00
abstract：:The Ca2+-sensitive dye quin-2 was used to measure the cytosolic free Ca2+ (Cai2+) in suspensions of ventricular myocytes isolated from cat and rat ventricles. Following an isolation procedure that was similar for both species, the cells were loaded with quin-2 AM (25 microM) for 30 min at 37 degrees C. After two washe...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/0143-4160(87)90002-9
更新日期：1987-08-01 00:00:00
abstract：:A new method for the determination of tissue concentrations of Fura-2 and Fura-2/AM was developed based upon acetonitrile extraction followed by RP-HPLC separation (using tetrahexylammonium as counter-ion), post-column alkaline hydrolysis of Fura-2/AM, and fluorimetric detection. The detection limit was 1.2 nM and 1 n...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/0143-4160(95)90057-8
更新日期：1995-11-01 00:00:00
abstract：:MAP kinases are a family of protein kinases that are ubiquitously expressed and play roles in most signal transduction pathways. They are activated within protein kinase cascades consisting of at least three kinases acting in series. In many, if not all cases, the three-kinase cascade, conveniently referred to as a MA...
journal_title：Cell calcium
pub_type： 杂志文章,评审
doi：10.1054/ceca.1999.0074
更新日期：1999-11-01 00:00:00
abstract：:Inhibition by Mg2+ ions of exocytotic secretion from permeabilised eosinophils, stimulated by Ca2+ and GTP gamma S, and in the presence and absence of ATP, has been examined. While Mg2+ inhibits release of aryl sulphatase, hexosaminidase and peroxidase, we found no evidence that this occurs by competition at a Ca(2+)-...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/s0143-4160(97)90045-2
更新日期：1997-03-01 00:00:00
abstract：:Nanosecond-duration electric stimuli are distinguished by the ability to permeabilize intracellular membranes and recruit Ca2+ from intracellular stores. We quantified this effect in non-excitable cells (CHO) using ratiometric Ca2+ imaging with Fura-2. In a Ca(2+)-free medium, 10-, 60-, and 300-ns stimuli evoked Ca2+ ...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/j.ceca.2013.05.008
更新日期：2013-09-01 00:00:00
abstract：:To determine intracellular Ca2+ concentrations more accurately, we examined Kd of Fura-2 for Ca2+ in conditions which were systemically changed. In a solution comprising of 150 mM KCI, 20 mM MOPS-KOH, pH 6.94, 60-100 microM EGTA and 1 microM Fura-2, Kd at 20 degrees C was 0.266 +/- 0.016 microM (mean +/- SEM) (21 dete...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/0143-4160(91)90082-p
更新日期：1991-01-01 00:00:00
abstract：:Middle East Respiratory Syndrome coronavirus (MERS-CoV) infections are associated with a significant mortality rate, and existing drugs show poor efficacy. Identifying novel targets/pathways required for MERS infectivity is therefore important for developing novel therapeutics. As an enveloped virus, translocation thr...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/j.ceca.2018.08.003
更新日期：2018-11-01 00:00:00
abstract：:Alternative splicing of the sarco/endoplasmic reticulum (SERCA2) Ca2+ pump transcript generates the two isoforms: SERCA2a in left ventricular myocytes (LVM) and SERCA2b in most tissues. Nuclear protein extracts from left ventricular myocytes can cause a decay of the 3'-region of the SERCA2a. To determine if all the do...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/j.ceca.2004.06.003
更新日期：2005-01-01 00:00:00
abstract：:Evidence is accumulating on a key role of T-type channels in neurotransmitter release. Recent works have brought undisputable proofs that T-type channels are capable of controlling hormone and neurotransmitters release in association with exocytosis of large dense-core and synaptic vesicles. T-type channel-secretion c...
journal_title：Cell calcium
pub_type： 杂志文章,评审
doi：10.1016/j.ceca.2006.04.019
更新日期：2006-08-01 00:00:00
abstract：:To determine the effects of exposure to reserpine on subcellular Ca2+ transporting systems, active Ca2+ uptake was measured with and without ruthenium red in submandibular gland vesicles obtained from rats after chronic treatment with reserpine. The properties of ruthenium red-sensitive Ca2+ uptake were similar to tho...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/0143-4160(87)90010-8
更新日期：1987-10-01 00:00:00
abstract：:Voltage activated L-type Ca(2+) channels are the principal Ca(2+) channels in intestinal smooth muscle cells. They comprise the ion conducting Ca(V)1 pore and the ancillary subunits alpha(2)delta and beta. Of the four Ca(V)beta subunits Ca(V)beta(3) is assumed to be the relevant Ca(V)beta protein in smooth muscle. In ...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/j.ceca.2007.04.013
更新日期：2007-10-01 00:00:00
abstract：:Pancreatic islets produce pulses of insulin and other hormones that maintain normal glucose homeostasis. These micro-organs possess exquisite glucose-sensing capabilities, allowing for precise changes in pulsatile insulin secretion in response to small changes in glucose. When communication among these cells is disrup...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1016/j.ceca.2019.102081
更新日期：2019-11-01 00:00:00
abstract：:The actions of crude venom from Anemesia species of spider were investigated in cultured dorsal root ganglion neurones from neonatal rats and hippocampal slices. Using mass spectrometry (MALDI-TOF MS), 10-12 distinct peptides with masses between about 3 and 10kDa were identified in the crude spider venom. At a concent...
journal_title：Cell calcium
pub_type： 杂志文章
doi：10.1054/ceca.2001.0228
更新日期：2001-09-01 00:00:00
abstract：:Under certain conditions of Ca2+ loading, cardiac myocytes, both isolated and in intact tissue, exhibit spontaneous, oscillatory Ca2+ transients due to Ca2+ release from the sarcoplasmic reticulum. These transients are not triggered by depolarization of the sarcolemma, though they themselves can generate depolarizing ...
journal_title：Cell calcium
pub_type： 杂志文章,评审
doi：10.1016/0143-4160(88)90005-x
更新日期：1988-12-01 00:00:00
