keyword
MENU ▼
Read by QxMD icon Read
search

Muscular chains

keyword
https://www.readbyqxmd.com/read/28281577/potent-pro-inflammatory-and-pro-fibrotic-molecules-osteopontin-and-galectin-3-are-not-major-disease-modulators-of-laminin-%C3%AE-2-chain-deficient-muscular-dystrophy
#1
Kinga I Gawlik, Johan Holmberg, Martina Svensson, Mikaela Einerborg, Bernardo M S Oliveira, Tomas Deierborg, Madeleine Durbeej
A large number of human diseases are caused by chronic tissue injury with fibrosis potentially leading to organ failure. There is a need for more effective anti-fibrotic therapies. Congenital muscular dystrophy type 1A (MDC1A) is a devastating form of muscular dystrophy caused by laminin α2 chain-deficiency. It is characterized with early inflammation and build-up of fibrotic lesions, both in patients and MDC1A mouse models (e.g. dy(3K)/dy(3K)). Despite the enormous impact of inflammation on tissue remodelling in disease, the inflammatory response in MDC1A has been poorly described...
March 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28264096/diagnostic-and-prognostic-biomarkers-in-amyotrophic-lateral-sclerosis-neurofilament-light-chain-levels-in-definite-subtypes-of-disease
#2
Alessandra Gaiani, Ilaria Martinelli, Luca Bello, Giorgia Querin, Marco Puthenparampil, Susanna Ruggero, Elisabetta Toffanin, Annachiara Cagnin, Chiara Briani, Elena Pegoraro, Gianni Sorarù
Importance: A clearer definition of the role of neurofilament light chain (NFL) as a biomarker in amyotrophic lateral sclerosis (ALS) is needed. Objectives: To assess the ability of NFL to serve as a diagnostic biomarker in ALS and the prognostic value of cerebrospinal fluid NFL in patients with ALS. Design, Setting, and Participants: In this single-center, retrospective, longitudinal study, disease progression was assessed by the ALS Functional Rating Score-Revised and the ALS Milano-Torino Staging system at baseline and 6, 12, 24, and 36 months...
March 6, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28253886/cellular-factories-for-coenzyme-q10-production
#3
REVIEW
Sean Qiu En Lee, Tsu Soo Tan, Makoto Kawamukai, Ee Sin Chen
Coenzyme Q10 (CoQ10), a benzoquinone present in most organisms, plays an important role in the electron-transport chain, and its deficiency is associated with various neuropathies and muscular disorders. CoQ10 is the only lipid-soluble antioxidant found in humans, and for this, it is gaining popularity in the cosmetic and healthcare industries. To meet the growing demand for CoQ10, there has been considerable interest in ways to enhance its production, the most effective of which remains microbial fermentation...
March 2, 2017: Microbial Cell Factories
https://www.readbyqxmd.com/read/28242362/intravenous-administration-of-mitochondria-for-treating-experimental-parkinson-s-disease
#4
Xianxun Shi, Ming Zhao, Chen Fu, Ailing Fu
Mitochondrial dysfunction is associated with a large number of human diseases, including neurological and muscular degeneration, cardiovascular disorders, obesity, diabetes, aging and rare mitochondrial diseases. Replacement of dysfunctional mitochondria with functional exogenous mitochondria is proposed as a general principle to treat these diseases. Here we found that mitochondria isolated from human hepatoma cell could naturally enter human neuroblastoma SH-SY5Y cell line, and when the mitochondria were intravenously injected into mice, all of the mice were survived and no obvious abnormality appeared...
February 24, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28237604/resistance-training-performed-at-distinct-angular-velocities-elicits-velocity-specific-alterations-in-muscle-strength-and-mobility-status-in-older-adults
#5
Davis A Englund, Rick L Sharp, Joshua T Selsby, Shanthi S Ganesan, Warren D Franke
BACKGROUND: The purpose of this study was to compare the effects of high and low velocity knee extension training on changes in muscle strength and mobility status in high-functioning older adults. METHODS: Twenty-six (16 female, 10 male) older adults (mean age of 65) were randomized to either 6weeks of low velocity resistance training (LVRT) performed at 75°/s or high velocity resistance training (HVRT) performed at 240°/s. Both groups performed 3 sets of knee extension exercises at maximal effort, 3 times a week...
February 22, 2017: Experimental Gerontology
https://www.readbyqxmd.com/read/28223230/myotoxicity-of-statins-mechanism-of-action
#6
REVIEW
Patrick du Souich, Ghislaine Roederer, Robert Dufour
Statins are effective drugs to reduce cardiovascular events secondary to dyslipidemia; however, they cause frequent undesirable side effects. The incidence of statin-induced myotoxicity (SIM) is presented by 7 to 29% of patients, depending upon the report. SIM may develop in presence of abnormally high concentrations of statins in the myocyte and/or in presence of muscular conditions that may predispose to SIM. High concentrations of statins in the myocyte may occur whenever the activity of liver influx membrane transporters, namely OATP1B1, of drug metabolizing enzymes, and of liver and muscular efflux transporters, MDR1 and BCRP, is reduced...
February 14, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28196890/dync1h1-mutations-associated-with-neurological-diseases-compromise-processivity-of-dynein-dynactin-cargo-adaptor-complexes
#7
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 28, 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
#8
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
#9
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
#10
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...
February 25, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28127425/novel-metabolic-and-physiological-functions-of-branched-chain-amino-acids-a-review
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
44508
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"