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https://www.readbyqxmd.com/read/28196890/dync1h1-mutations-associated-with-neurological-diseases-compromise-processivity-of-dynein-dynactin-cargo-adaptor-complexes
#1
Ha Thi Hoang, Max A Schlager, Andrew P Carter, Simon L Bullock
Mutations in the human DYNC1H1 gene are associated with neurological diseases. DYNC1H1 encodes the heavy chain of cytoplasmic dynein-1, a 1.4-MDa motor complex that traffics organelles, vesicles, and macromolecules toward microtubule minus ends. The effects of the DYNC1H1 mutations on dynein motility, and consequently their links to neuropathology, are not understood. Here, we address this issue using a recombinant expression system for human dynein coupled to single-molecule resolution in vitro motility assays...
February 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28188262/mapk-signaling-pathways-and-hdac3-activity-are-disrupted-during-emerin-null-myogenic-progenitor-differentiation
#2
Carol M Collins, Joseph Ellis, James M Holaska
Mutations in the gene encoding emerin cause Emery-Dreifuss muscular dystrophy (EDMD). Emerin is an integral inner nuclear membrane protein and a component of the nuclear lamina. EDMD is characterized by skeletal muscle wasting, cardiac conduction defects and tendon contractures. The failure to regenerate skeletal muscle is predicted to contribute to the skeletal muscle pathology of EDMD. We hypothesize muscle regeneration defects are caused by impaired muscle stem cell differentiation. Myogenic progenitors derived from emerin-null mice were used to confirm their impaired differentiation and analyze selected myogenic molecular pathways...
February 10, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28137585/saturation-of-serca-s-lipid-annulus-may-protect-against-its-thermal-inactivation
#3
Val Andrew Fajardo, Natalie Trojanowski, Laura M Castelli, Paula M Miotto, Foyinsola Amoye, Wendy E Ward, A Russell Tupling, Paul J LeBlanc
The sarco(endo)plasmic reticulum Ca(2+)-ATPase (SERCA) pumps are integral membrane proteins that catalyze the active transport of Ca(2+) into the sarcoplasmic reticulum, thereby eliciting muscle relaxation. SERCA pumps are highly susceptible to oxidative damage, and cytoprotection of SERCA dampens thermal inactivation and is a viable therapeutic strategy in combating diseases where SERCA activity is impaired, such as muscular dystrophy. Here, we sought to determine whether increasing the percent of saturated fatty acids (SFA) within SERCA's lipid annulus through diet could protect SERCA pumps from thermal inactivation...
January 27, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28132977/mitochondrial-trifunctional-protein-deficiency-an-adult-patient-with-similar-progress-to-charcot-marie-tooth-disease
#4
Yuki Yamamoto, Naoko Matsui, Yu Hiramatsu, Yoshimichi Miyazaki, Hiroyuki Nodera, Yuishin Izumi, Hiroshi Takashima, Ryuji Kaji
A 45-year-old man presented to us due to slowly progressive muscle weakness and sensory disturbances in his lower limbs since his 40's. He reported multiple episodes of exercise-induced severe muscle fatigue and brown urine in his childhood, which disappeared by age 20. A nerve conduction study showed peripheral axonal neuropathy and then Charcot-Marie-Tooth disease (CMT) was considered as the most likely diagnosis; however, exome sequencing failed to identify a mutation in the known genes of CMTs. Since age 55, he recurrently developed severe rhabdomyolysis that required hospitalization...
January 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28127425/novel-metabolic-and-physiological-functions-of-branched-chain-amino-acids-a-review
#5
REVIEW
Shihai Zhang, Xiangfang Zeng, Man Ren, Xiangbing Mao, Shiyan Qiao
It is widely known that branched chain amino acids (BCAA) are not only elementary components for building muscle tissue but also participate in increasing protein synthesis in animals and humans. BCAA (isoleucine, leucine and valine) regulate many key signaling pathways, the most classic of which is the activation of the mTOR signaling pathway. This signaling pathway connects many diverse physiological and metabolic roles. Recent years have witnessed many striking developments in determining the novel functions of BCAA including: (1) Insufficient or excessive levels of BCAA in the diet enhances lipolysis...
2017: Journal of Animal Science and Biotechnology
https://www.readbyqxmd.com/read/28125085/the-next-generation-of-population-based-spinal-muscular-atrophy-carrier-screening-comprehensive-pan-ethnic-smn1-copy-number-and-sequence-variant-analysis-by-massively-parallel-sequencing
#6
Yanming Feng, Xiaoyan Ge, Linyan Meng, Jennifer Scull, Jianli Li, Xia Tian, Tao Zhang, Weihong Jin, Hanyin Cheng, Xia Wang, Mari Tokita, Pengfei Liu, Hui Mei, Yue Wang, Fangyuan Li, Eric S Schmitt, Wei V Zhang, Donna Muzny, Shu Wen, Zhao Chen, Yaping Yang, Arthur L Beaudet, Xiaoming Liu, Christine M Eng, Fan Xia, Lee-Jun Wong, Jinglan Zhang
PURPOSE: To investigate pan-ethnic SMN1 copy-number and sequence variation by hybridization-based target enrichment coupled with massively parallel sequencing or next-generation sequencing (NGS). METHODS: NGS reads aligned to SMN1 and SMN2 exon 7 were quantified to determine the total combined copy number of SMN1 and SMN2. The ratio of SMN1 to SMN2 was calculated based on a single-nucleotide difference that distinguishes the two genes. SMN1 copy-number results were compared between the NGS and quantitative polymerase chain reaction and/or multiplex ligation-dependent probe amplification...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28087734/increased-mitophagy-in-the-skeletal-muscle-of-spinal-and-bulbar-muscular-atrophy-patients
#7
Doriana Borgia, Adriana Malena, Marco Spinazzi, Maria Andrea Desbats, Leonardo Salviati, Aaron P Russell, Giovanni Miotto, Laura Tosatto, Elena Pegoraro, Gianni Sorarù, Maria Pennuto, Lodovica Vergani
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of lower motor neurons. Here we investigated pathological processes occurring in muscle biopsy specimens derived from SBMA patients and, as controls, age-matched healthy subjects and patients suffering from amyotrophic lateral sclerosis (ALS) and neurogenic atrophy. We detected atrophic fibers in the muscle of SBMA, ALS and neurogenic atrophy patients...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28078418/absolute-quantification-of-myosin-heavy-chain-isoforms-by-selected-reaction-monitoring-can-underscore-skeletal-muscle-changes-in-a-mouse-model-of-amyotrophic-lateral-sclerosis
#8
Caterina Peggion, Maria Lina Massimino, Giancarlo Biancotto, Roberto Angeletti, Carlo Reggiani, Maria Catia Sorgato, Alessandro Bertoli, Roberto Stella
Skeletal muscle fibers contain different isoforms of myosin heavy chain (MyHC) that define distinctive contractile properties. In light of the muscle capacity to adapt MyHC expression to pathophysiological conditions, a rapid and quantitative assessment of MyHC isoforms in small muscle tissue quantities would represent a valuable diagnostic tool for (neuro)muscular diseases. As past protocols did not meet these requirements, in the present study we applied a targeted proteomic approach based on selected reaction monitoring that allowed the absolute quantification of slow and fast MyHC isoforms in different mouse skeletal muscles with high reproducibility...
January 11, 2017: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/28065684/ighmbp2-related-clinical-and-genetic-features-in-a-cohort-of-chinese-charcot-marie-tooth-disease-type-2-patients
#9
Lei Liu, Xiaobo Li, Zhengmao Hu, Xiao Mao, Xiaohong Zi, Kun Xia, Beisha Tang, Ruxu Zhang
IGHMBP2 mutations had been exclusively associated with spinal muscular atrophy with respiratory distress type I. However, increasing AR-CMT2S cases without respiratory failure caused by IGHMBP2 mutations have been reported in the past two years. We detected IGHMBP2 mutations in a cohort of Chinese CMT2 patients using genes panel testing, polymerase chain reaction and Sanger sequencing. We found four families with autosomal recessive IGHMBP2 mutations, and the frequency of IGHMBP2 mutations is 6.5% in CMT2 without dominant inheritance...
February 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28056338/hanac-col4a1-mutation-in-mice-leads-to-skeletal-muscle-alterations-due-to-a-primary-vascular-defect
#10
Simon Guiraud, Tiffany Migeon, Arnaud Ferry, Zhiyong Chen, Souhila Ouchelouche, Marie-Christine Verpont, Yoshikazu Sado, Valérie Allamand, Pierre Ronco, Emmanuelle Plaisier
Collagen IV is a major component of basement membranes (BMs). The α1(IV) chain, encoded by the COL4A1 gene, is expressed ubiquitously and associates with the α2(IV) chain to form the α1α1α2(IV) heterotrimer. Several COL4A1 mutations affecting a conformational domain containing integrin-binding sites are responsible for the systemic syndrome of hereditary angiopathy, nephropathy, aneurysms, and cramps (HANAC). To analyze the pathophysiology of HANAC, Col4a1 mutant mice bearing the p.Gly498Val mutation were generated...
January 3, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28017945/-pathological-state-or-cause-of-sarcopenia
#11
Yasumoto Matsui
Skeletal muscle atrophy by aging(Sarcopenia)is more likely to occur in lower limbs rather than upper ones, and in the thigh rather than in the lower leg, and in the anterior side of thigh rather than posterior, faster in men than in women. It differs from disuse muscle atrophy in that it occurs slowly and gradually, hard to be recovered, or fast twitch fibers are mainly involved. Many factors or phenomena are known to contribute to proceed sarcopenia. In the aged skeletal muscle tissue, the number of satellite cells or motor neurons decrease and the function of the neuro-muscular junction declines...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/28009281/peroxiredoxin-1-protects-telomeres-from-oxidative-damage-and-preserves-telomeric-dna-for-extension-by-telomerase
#12
Eric Aeby, Wareed Ahmed, Sophie Redon, Viesturs Simanis, Joachim Lingner
Oxidative damage of telomeres can promote cancer, cardiac failure, and muscular dystrophy. Specific mechanisms protecting telomeres from oxidative damage have not been described. We analyzed telomeric chromatin composition during the cell cycle and show that the antioxidant enzyme peroxiredoxin 1 (PRDX1) is enriched at telomeres during S phase. Deletion of the PRDX1 gene leads to damage of telomeric DNA upon oxidative stress, revealing a protective function of PRDX1 against oxidative damage at telomeres. We also show that the oxidized nucleotide 8-oxo-2'deoxyguanosine-5'-triphosphate (8oxodGTP) causes premature chain termination when incorporated by telomerase and that some DNA substrates terminating in 8oxoG prevent extension by telomerase...
December 20, 2016: Cell Reports
https://www.readbyqxmd.com/read/28005993/decreased-peak-expiratory-flow-associated-with-muscle-fiber-type-switching-in-spinal-and-bulbar-muscular-atrophy
#13
Shinichiro Yamada, Atsushi Hashizume, Yasuhiro Hijikata, Tomonori Inagaki, Keisuke Suzuki, Naohide Kondo, Kaori Kawai, Seiya Noda, Hirotaka Nakanishi, Haruhiko Banno, Akihiro Hirakawa, Haruki Koike, Katherine Halievski, Cynthia L Jordan, Masahisa Katsuno, Gen Sobue
The aim of this study was to characterize the respiratory function profile of subjects with spinal and bulbar muscular atrophy (SBMA), and to explore the underlying pathological mechanism by comparing the clinical and biochemical indices of this disease with those of amyotrophic lateral sclerosis (ALS). We enrolled male subjects with SBMA (n = 40) and ALS (n = 25) along with 15 healthy control subjects, and assessed their respiratory function, motor function, and muscle strength. Predicted values of peak expiratory flow (%PEF) and forced vital capacity were decreased in subjects with SBMA compared with controls...
2016: PloS One
https://www.readbyqxmd.com/read/27992245/isokinetic-evaluation-of-the-hip-flexor-and-extensor-muscles-a-systematic-review
#14
Fabricio Yuri Zapparoli, Marcelo Riberto
INTRODUCTION: Isokinetic dynamometry testing is a safe and reliable method accepted as the "gold standard" in the evaluation of muscle strength in the open kinetic chain. Isokinetic hip examinations face problems in the standardization of the position of the equipment axis; in the individual being examined; in the adjustment of the lever arm and in stabilization strategies for the patients during the tests. Identification of the methodologic procedures with best reproducibility is also needed...
December 19, 2016: Journal of Sport Rehabilitation
https://www.readbyqxmd.com/read/27990231/fast-simulation-and-optimization-tool-to-explore-selective-neural-stimulation
#15
Mélissa Dali, Olivier Rossel, David Guiraud
In functional electrical stimulation, selective stimulation of axons is desirable to activate a specific target, in particular muscular function. This implies to simulate a fascicule without activating neighboring ones i.e. to be spatially selective. Spatial selectivity is achieved by the use of multicontact cuff electrodes over which the stimulation current is distributed. Because of the large number of parameters involved, numerical simulations provide a way to find and optimize electrode configuration. The present work offers a computation effective scheme and associated tool chain capable of simulating electrode-nerve interface and find the best spread of current to achieve spatial selectivity...
June 13, 2016: European Journal of Translational Myology
https://www.readbyqxmd.com/read/27960149/the-crucial-role-of-c18-cer-in-fat-induced-skeletal-muscle-insulin-resistance
#16
Agnieszka U Blachnio-Zabielska, Marta Chacinska, Mikkel H Vendelbo, Piotr Zabielski
BACKGROUND/AIMS: Muscle bioactive lipids accumulation leads to several disorder states. The most common are insulin resistance (IR) and type 2 diabetes. There is an ongoing debate which of the lipid species plays the major role in induction of muscle IR. Our aim was to elucidate the role of particular lipid group in induction of muscle IR. METHODS: The analyses were performed on muscle from the following groups of rats: 1. Control, fed standard diet, 2 HFD, fed high fat diet, 3...
2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27930565/a-case-report-with-the-peculiar-concomitance-of-2-different-genetic-syndromes
#17
REVIEW
Alberto Lerario, Irene Colombo, Donatella Milani, Lorenzo Peverelli, Luisa Villa, Roberto Del Bo, Monica Sciacco, Giacomo Pietro Comi, Susanna Esposito, Maurizio Moggio
RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS: An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27927223/mitochondrial-co-chaperone-protein-tid1-is-required-for-energy-homeostasis-during-skeletal-myogenesis
#18
Li-Hao Cheng, Kai-Feng Hung, Te-Chang Lee, Chih-Yang Huang, Wen-Ting Chiu, Jeng-Fan Lo, Tung-Fu Huang
BACKGROUND: Tid1 is a mitochondrial co-chaperone protein and its transcript is abundantly expressed in skeletal muscle tissues. However, the physiological function of Tid1 during skeletal myogenesis remains unclear. METHODS: In vitro induced differentiation assay of mouse myoblast C2C12 cells was applied to examine the physiological role of Tid1 during skeletal myogenesis. In addition, transgenic mice with muscle specific (HSA-Cre) Tid1 deletion were established and examined to determine the physiological function of Tid1 during skeletal muscle development in vivo...
December 7, 2016: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/27895494/ercc1-and-xrcc1-but-not-xpa-single-nucleotide-polymorphisms-correlate-with-response-to-chemotherapy-in-endometrial-carcinoma
#19
Liang Chen, Mei-Mei Liu, Hui Liu, Dan Lu, Xiao-Dan Zhao, Xue-Jing Yang
Our study aimed to investigate the correlation between single nucleotide polymorphisms of ERCC1/XRCC1/XPA genes and postoperative chemotherapy efficacy and prognosis of endometrial carcinoma. Our study included 108 patients with endometrial carcinoma and 100 healthy participants. ERCC1 rs11615/XRCC1 rs25487/XPA rs1800975 gene polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism. Then the chemotherapy efficacy and toxic effects of the patients were assessed. The genotype and allele frequency of ERCC1 rs11615/XRCC1 rs25487 in the case group were significantly different from that in the control group (all P<0...
2016: OncoTargets and Therapy
https://www.readbyqxmd.com/read/27871005/nickel-affects-gill-and-muscle-development-in-oriental-fire-bellied-toad-bombina-orientalis-embryos
#20
Chan Jin Park, Sang Ha Song, Dae Han Kim, Myung Chan Gye
The developmental toxicity of nickel was examined in the embryos of Bombina orientalis, a common amphibian in Korea. Based on a standard frog embryo teratogenesis assay, the LC50 and EC50 for malformation of nickel after 168h of treatment were 33.8μM and 5.4μM, respectively. At a lethal concentration (100μM), nickel treatment decreased the space between gill filaments and caused epithelial swelling and abnormal fusion of gill filaments. These findings suggest that nickel affects the functional development of gills, leading to embryonic death...
January 2017: Aquatic Toxicology
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