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https://www.readbyqxmd.com/read/29701772/inositol-trisphosphate-receptor-mediated-ca2-signalling-stimulates-mitochondrial-function-and-gene-expression-in-core-myopathy-patients
#1
Matteo Suman, Jenny A Sharpe, Robert B Bentham, Vassilios N Kotiadis, Michela Menegollo, Viviana Pignataro, Jordi Molgó, Francesco Muntoni, Michael R Duchen, Elena Pegoraro, Gyorgy Szabadkai
Core myopathies are a group of childhood muscle disorders caused by mutations of the ryanodine receptor (RyR1), the Ca2+ release channel of the sarcoplasmic reticulum. These mutations have previously been associated with elevated inositol trisphosphate receptor (IP3R) levels in skeletal muscle myotubes derived from patients. However, the functional relevance and the relationship of IP3R mediated Ca2+ signalling with the pathophysiology of the disease is unclear. It has also been suggested that mitochondrial dysfunction underlies the development of central and diffuse multi-mini-cores, devoid of mitochondrial activity, which is a key pathological consequence of RyR1 mutations...
April 25, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29674523/efficient-high-throughput-screening-by-er-ca-2-measurement-to-identify-inhibitors-of-ryanodine-receptor-ca2-release-channels
#2
Takashi Murayama, Nagomi Kurebayashi, Mari Ikegami-Yuasa, Shuichi Mori, Yukina Suzuki, Ryunosuke Akima, Haruo Ogawa, Junji Suzuki, Kazunori Kanemaru, Hideto Oyamada, Yuji Kiuchi, Masamitsu Iino, Hiroyuki Kagechika, Takashi Sakurai
Genetic mutations in ryanodine receptors (RyRs), Ca2+-release channels in the sarcoplasmic reticulum essential for muscle contractions, cause various skeletal muscle and cardiac diseases. Because the main underlying mechanism of the pathogenesis is overactive Ca2+ release by gain-of-function of the RyR channel, inhibition of RyRs is expected to be a promising treatment for these diseases. Here, to identify inhibitors specific to skeletal muscle type 1 RyR (RyR1), we developed a novel high-throughput screening (HTS) platform using time-lapse fluorescence measurement of Ca2+ concentrations in the endoplasmic reticulum (ER) ([Ca2+]ER)...
April 19, 2018: Molecular Pharmacology
https://www.readbyqxmd.com/read/29669168/characterization-of-congenital-myopathies-at-a-korean-neuromuscular-center
#3
Young-Eun Park, Jin-Hong Shin, Hyang-Sook Kim, Chang-Hoon Lee, Dae-Seong Kim
INTRODUCTION: Congenital myopathies are muscle diseases characterized by specific histopathological features, generalized hypotonia from birth, and perinatal complications, although some cases develop during childhood or rarely even in adulthood. We undertook the study to characterize congenital myopathies among patients registered at our institution. METHODS: Clinical, histopathological and genetic features were evaluated in 34 patients recruited for this study...
April 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29667327/novel-west-syndrome-candidate-genes-in-a-chinese-cohort
#4
Jing Peng, Ying Wang, Fang He, Chen Chen, Li-Wen Wu, Li-Fen Yang, Yu-Ping Ma, Wen Zhang, Zi-Qing Shi, Chao Chen, Kun Xia, Hui Guo, Fei Yin, Nan Pang
AIMS: West syndrome (WS) is a classic form of early infantile epileptic encephalopathy (EIEE) characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on electroencephalography. Genetic defects play a critical role in the pathology of WS, and 54 EIEE genes have been identified till date. This study was designed to uncover new candidate genes for West syndrome. METHODS: In this study, we recruited 56 Chinese families with WS of unknown etiology...
April 17, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29629541/clinical-and-pathologic-findings-of-korean-patients-with-ryr1-related-congenital-myopathy
#5
Ha Neul Jeong, Hyung Jun Park, Jung Hwan Lee, Ha Young Shin, Se Hoon Kim, Seung Min Kim, Young Chul Choi
BACKGROUND AND PURPOSE: This study was designed to investigate clinical and pathologic characteristics of five Korean patients with RYR1-related congenital myopathy (CM). METHODS: Five patients from unrelated families were diagnosed with RYR1-related CM via direct or targeted sequencing of RYR1. Their clinical, mutational, and pathologic findings were then analyzed. RESULTS: Seven different mutations were identified, including two novel mutations: c...
January 2018: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29621665/effect-of-sex-and-ryr1-gene-mutation-on-the-muscle-proteomic-profile-and-main-physiological-biomarkers-in-pigs-at-slaughter
#6
Mamen Oliván, Joel González, Anna Bassols, Fernando Díaz, Ricard Carreras, Eva Mainau, Laura Arroyo, Raquel Peña, Yaiza Potes, Ana Coto-Montes, Kristin Hollung, Antonio Velarde
Gender and RYR1 gene mutation might have an effect on the muscle metabolic characteristics and on the animal's stress at slaughter, which could influence the process of muscle-to-meat conversion. Forty-eight pigs were distributed in a design including two factors: sex (male/female) and RYR1 genotype (NN/Nn). At slaughter, physiological blood biomarkers and muscle proteome were analyzed and carcass and meat quality traits were registered. Females had higher serum levels of glucose, urea, C-reactive protein "CRP", Pig-MAP and glutation-peroxidase "GPx" and lower levels of lactate, showed faster muscle pH decline and higher meat exudation...
March 27, 2018: Meat Science
https://www.readbyqxmd.com/read/29617551/organohalogens-naturally-biosynthesized-in-marine-environments-and-produced-as-disinfection-by-products-alter-sarco-endoplasmic-reticulum-ca-2-dynamics
#7
Jing Zheng, Shaun M K Mckinnie, Abrahim El Gamal, Wei Feng, Yao Dong, Vinayak Agarwal, William Fenical, Abdhesh Kumar, Zhengyu Cao, Bradley S Moore, Isaac N Pessah
Contemporary sources of organohalogens produced as disinfection by-products (DBPs) are receiving considerable attention as emerging pollutants because of their abundance, persistence, and potential to structurally mimic natural organohalogens produced by bacteria that serve signaling and/or toxicological functions in marine environments. Here we tested 34 organohalogens from anthropogenic and marine sources to identify compounds active towards ryanodine receptor (RyR1), known toxicological targets of non-dioxin-like polychlorinated biphenyls (PCBs) and polybrominated diphenylethers (PBDEs)...
April 4, 2018: Environmental Science & Technology
https://www.readbyqxmd.com/read/29593014/ryanodine-receptor-calcium-leak-in-circulating-b-lymphocytes-as-a-biomarker-in-heart-failure
#8
Alexander Kushnir, Gaetano Santulli, Steven R Reiken, Ellie Coromilas, Sarah J Godfrey, Danielle L Brunjes, Paolo C Colombo, Melana Yuzefpolskaya, Seth I Sokol, Richard N Kitsis, Andrew R Marks
Background -Advances in congestive heart failure (CHF) management depend on biomarkers for monitoring disease progression and therapeutic response. During systole, intracellular Ca2+ is released from the sarcoplasmic reticulum (SR) into the cytoplasm through type 2 ryanodine receptor/Ca2+ release channels (RyR2). In CHF, chronically elevated circulating catecholamine levels cause pathologic remodeling of RyR2 resulting in diastolic SR Ca2+ leak, and decreased myocardial contractility. Similarly, skeletal muscle contraction requires SR Ca2+ release through type-1 ryanodine receptors (RyR1), and chronically elevated catecholamine levels in CHF cause RyR1 mediated SR Ca2+ leak, contributing to myopathy and weakness...
March 28, 2018: Circulation
https://www.readbyqxmd.com/read/29576327/parental-mosaicism-in-ryr1-related-central-core-disease
#9
S Marks, E van Ruitenbeek, P Fallon, P Johns, R Phadke, R Mein, S Mohammed, H Jungbluth
Myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene are amongst the most common non-dystrophic neuromuscular disorders and have been associated with both dominant and recessive inheritance. Several cases with apparently de novo dominant inheritance have been reported. Here we report two siblings with features of Central Core Disease (CCD) born to unaffected parents. Genetic testing revealed a heterozygous dominant RYR1 c.14582G>A (p. Arg4861His) mutation previously identified in other CCD pedigrees...
February 26, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29557500/incidental-and-clinically-actionable-genetic-variants-in-1005-whole-exomes-and-genomes-from-qatar
#10
Abhinav Jain, Shrey Gandhi, Remya Koshy, Vinod Scaria
Incidental findings in genomic data have been studied in great detail in the recent years, especially from population-scale data sets. However, little is known about the frequency of such findings in ethnic groups, specifically the Middle East, which were not previously covered in global sequencing studies. The availability of whole exome and genome data sets for a highly consanguineous Arab population from Qatar motivated us to explore the incidental findings in this population-scale data. The sequence data of 1005 Qatari individuals were systematically analyzed for incidental genetic variants in the 59 genes suggested by the American College of Medical Genetics and Genomics...
March 20, 2018: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29556213/novel-variants-in-individuals-with-ryr1-related-congenital-myopathies-genetic-laboratory-and-clinical-findings
#11
Joshua J Todd, Muslima S Razaqyar, Jessica W Witherspoon, Tokunbor A Lawal, Ami Mankodi, Irene C Chrismer, Carolyn Allen, Mary D Meyer, Anna Kuo, Monique S Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G Bönnemann, James J Dowling, Katherine G Meilleur
The ryanodine receptor 1-related congenital myopathies ( RYR1 -RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contractures to scoliosis, ophthalmoplegia, and respiratory involvement. Although there is currently no FDA-approved treatment for RYR1- RM, our group recently conducted the first clinical trial in this patient population (NCT02362425). This study aimed to characterize novel RYR1 variants with regard to genetic, laboratory, muscle magnetic resonance imaging (MRI), and clinical findings...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29545923/calcium-electroporation-for-treatment-of-sarcoma-in-preclinical-studies
#12
Anna Szewczyk, Julie Gehl, Malgorzata Daczewska, Jolanta Saczko, Stine Krog Frandsen, Julita Kulbacka
Calcium electroporation (CaEP) describes the use of electric pulses (electroporation) to transiently permeabilize cells to allow supraphysiological doses of calcium to enter the cytosol. Calcium electroporation has successfully been investigated for treatment of cutaneous metastases in a clinical study. This preclinical study explores the possible use of calcium electroporation for treatment of sarcoma. A normal murine muscle cell line (C2C12), and a human rhabdomyosarcoma cell line (RD) were used in the undifferentiated and differentiated state...
February 20, 2018: Oncotarget
https://www.readbyqxmd.com/read/29543863/distinct-transcriptomic-changes-in-e14-5-mouse-skeletal-muscle-lacking-ryr1-or-cav1-1-converge-at-e18-5
#13
Dilyana Filipova, Margit Henry, Tamara Rotshteyn, Anna Brunn, Mariana Carstov, Martina Deckert, Jürgen Hescheler, Agapios Sachinidis, Gabriele Pfitzer, Symeon Papadopoulos
In skeletal muscle the coordinated actions of two mechanically coupled Ca2+ channels-the 1,4-dihydropyridine receptor (Cav1.1) and the type 1 ryanodine receptor (RYR1)-underlie the molecular mechanism of rapid cytosolic [Ca2+] increase leading to contraction. While both [Ca2+]i and contractile activity have been implicated in the regulation of myogenesis, less is known about potential specific roles of Cav1.1 and RYR1 in skeletal muscle development. In this study, we analyzed the histology and the transcriptomic changes occurring at E14...
2018: PloS One
https://www.readbyqxmd.com/read/29498452/ryanodine-receptor-type-3-ryr3-as-a-novel-gene-associated-with-a-myopathy-with-nemaline-bodies
#14
Y Nilipour, S Nafissi, A E Tjust, G Ravenscroft, H Hossein Nejad Nedai, R L Taylor, V Varasteh, F Pedrosa Domellöf, M Zangi, S H Tonekaboni, M Olivé, K Kiiski, L Sagath, M R Davis, N G Laing, H Tajsharghi
BACKGROUND AND PURPOSE: Nemaline myopathy (NEM) has been associated with mutations in 12 genes to date. However, for some patients diagnosed with NEM, definitive mutations are not identified in the known genes, suggesting that there are other genes involved. This study describes compound heterozygosity for rare variants in ryanodine receptor type 3 (RYR3) gene in one such patient. METHODS AND RESULTS: Clinical examination of the patient at 22 years of age revealed a long narrow face, high arched palate and bilateral facial weakness...
June 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29467163/stac-proteins-associate-with-the-critical-domain-for-excitation-contraction-coupling-in-the-ii-iii-loop-of-ca-v-1-1
#15
Alexander Polster, Benjamin R Nelson, Symeon Papadopoulos, Eric N Olson, Kurt G Beam
In skeletal muscle, residues 720-764/5 within the CaV 1.1 II-III loop form a critical domain that plays an essential role in transmitting the excitation-contraction (EC) coupling Ca2+ release signal to the type 1 ryanodine receptor (RyR1) in the sarcoplasmic reticulum. However, the identities of proteins that interact with the loop and its critical domain and the mechanism by which the II-III loop regulates RyR1 gating remain unknown. Recent work has shown that EC coupling in skeletal muscle of fish and mice depends on the presence of Stac3, an adaptor protein that is highly expressed only in skeletal muscle...
April 2, 2018: Journal of General Physiology
https://www.readbyqxmd.com/read/29459480/occupational-exposure-to-pesticides-is-associated-with-differential-dna-methylation
#16
Diana A van der Plaat, Kim de Jong, Maaike de Vries, Cleo C van Diemen, Ivana Nedeljković, Najaf Amin, Hans Kromhout, Roel Vermeulen, Dirkje S Postma, Cornelia M van Duijn, H Marike Boezen, Judith M Vonk
OBJECTIVES: Occupational pesticide exposure is associated with a wide range of diseases, including lung diseases, but it is largely unknown how pesticides influence airway disease pathogenesis. A potential mechanism might be through epigenetic mechanisms, like DNA methylation. Therefore, we assessed associations between occupational exposure to pesticides and genome-wide DNA methylation sites. METHODS: 1561 subjects of LifeLines were included with either no (n=1392), low (n=108) or high (n=61) exposure to any type of pesticides (estimated based on current or last held job)...
February 19, 2018: Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/29456480/novel-homozygous-missense-mutation-in-ryr1-leads-to-severe-congenital-ptosis-ophthalmoplegia-and-scoliosis-in-the-absence-of-myopathy
#17
Nafi Dilaver, Neda Mazaheri, Reza Maroofian, Jawaher Zeighami, Tahere Seifi, Mina Zamani, Alireza Sedaghat, Gholam Reza Shariati, Hamid Galehdari
Ryanodine receptor 1 ( RYR1 ) is an intracellular calcium receptor primarily expressed in skeletal muscle with a role in excitation contraction. Both dominant and recessive mutations in the RYR1 gene cause a range of RYR1 -related myopathies and/or susceptibility to malignant hyperthermia (MH). Recently, an atypical manifestation of ptosis, variably presenting with ophthalmoplegia, facial paralysis, and scoliosis but without significant muscle weakness, has been reported in 9 cases from 4 families with bialleic variants in RYR1 ...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29432144/single-channel-recordings-of-ryr1-at-microsecond-resolution-in-cmos-suspended-membranes
#18
Andreas J W Hartel, Peijie Ong, Indra Schroeder, M Hunter Giese, Siddharth Shekar, Oliver B Clarke, Ran Zalk, Andrew R Marks, Wayne A Hendrickson, Kenneth L Shepard
Single-channel recordings are widely used to explore functional properties of ion channels. Typically, such recordings are performed at bandwidths of less than 10 kHz because of signal-to-noise considerations, limiting the temporal resolution available for studying fast gating dynamics to greater than 100 µs. Here we present experimental methods that directly integrate suspended lipid bilayers with high-bandwidth, low-noise transimpedance amplifiers based on complementary metal-oxide-semiconductor (CMOS) integrated circuits (IC) technology to achieve bandwidths in excess of 500 kHz and microsecond temporal resolution...
February 20, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29391587/congenital-myopathies-disorders-of-excitation-contraction-coupling-and-muscle-contraction
#19
REVIEW
Heinz Jungbluth, Susan Treves, Francesco Zorzato, Anna Sarkozy, Julien Ochala, Caroline Sewry, Rahul Phadke, Mathias Gautel, Francesco Muntoni
The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly progressive course. Pronounced weakness in axial and proximal muscle groups is a common feature, and involvement of extraocular, cardiorespiratory and/or distal muscles can implicate specific genetic defects. Central core disease (CCD), multi-minicore disease (MmD), centronuclear myopathy (CNM) and nemaline myopathy were among the first congenital myopathies to be reported, and they still represent the main diagnostic categories...
March 2018: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29355282/malignant-hyperthermia-and-ryanodine-receptor-type-1-gene-ryr1-mutation-in-a-family-in-singapore
#20
Daphne Wy Li, Poh San Lai, Delice W Lee, Rita Yy Yong, Tat Leang Lee
INTRODUCTION: Sporadic clinical episodes of malignant hyperthermia (MH) that develop during general anaesthesia (GA) have been reported in Singapore. However, there is no published local report of a confirmed case of MH susceptibility (MHS) by skeletal muscle contracture tests and/or molecular tests. MATERIALS AND METHODS: We report 2 patients from an extended family who developed signs of clinical MH while under GA. The MH episodes were successfully treated with intravenous dantrolene sodium...
December 2017: Annals of the Academy of Medicine, Singapore
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