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https://www.readbyqxmd.com/read/28917839/m2b-macrophage-polarization-accompanied-with-reduction-of-long-noncoding-rna-gas5
#1
Ichiaki Ito, Akira Asai, Sumihiro Suzuki, Makiko Kobayashi, Fujio Suzuki
Macrophages (Mϕ) are highly plastic and change their functional phenotypes depending on microenvironmental signals. Recent studies have shown that microRNAs are involved in the polarization of Mϕ. In this study, we demonstrated that the phenotype of M2bMϕ [CCL1(+) IL-10(+) LIGHT(+)] switches to other phenotypes with interchangeability attained through the increased expression of growth arrest-specific 5 RNA (GAS5 RNA), a long non-coding RNA. GAS5 RNA has been described as a silencer of the CCL1 gene. Various phenotypes of Mϕ were prepared from bone marrow-derived Mϕ (BMDMϕ) after stimulation with IFNγ [M(IFNγ)]/M1Mϕ, IL-4 [M(IL-4)]/M2aMϕ, LPS and immobilized IgG [M(LPS + IC)]/M2bMϕ, and IL-10 [M(IL-10)/M2cMϕ]...
September 13, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28905073/erratum-to-stress-and-the-nonsense-mediated-rna-decay-pathway
#2
Alexandra E Goetz, Miles Wilkinson
The original version of this article unfortunately contained errors in the section entitled "NMD in stress responses in plants".
September 13, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28899899/dual-function-of-upf3b-in-early-and-late-translation-termination
#3
Gabriele Neu-Yilik, Etienne Raimondeau, Boris Eliseev, Lahari Yeramala, Beate Amthor, Aurélien Deniaud, Karine Huard, Kathrin Kerschgens, Matthias W Hentze, Christiane Schaffitzel, Andreas E Kulozik
Nonsense-mediated mRNA decay (NMD) is a cellular surveillance pathway that recognizes and degrades mRNAs with premature termination codons (PTCs). The mechanisms underlying translation termination are key to the understanding of RNA surveillance mechanisms such as NMD and crucial for the development of therapeutic strategies for NMD-related diseases. Here, we have used a fully reconstituted in vitro translation system to probe the NMD proteins for interaction with the termination apparatus. We discovered that UPF3B (i) interacts with the release factors, (ii) delays translation termination and (iii) dissociates post-termination ribosomal complexes that are devoid of the nascent peptide...
September 12, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28880999/stereo-eeg-diagnostic-and-therapeutic-tool-for-periventricular-nodular-heterotopia-epilepsies
#4
Laura Mirandola, Roberto F Mai, Stefano Francione, Veronica Pelliccia, Francesca Gozzo, Ivana Sartori, Lino Nobili, Francesco Cardinale, Massimo Cossu, Stefano Meletti, Laura Tassi
OBJECTIVE: Periventricular nodular heterotopias (PNHs) are malformations of cortical development related to neuronal migration disorders, frequently associated with drug-resistant epilepsy (DRE). Stereo-electroencephalography (SEEG) is considered a very effective step of the presurgical evaluation, providing the recognition of the epileptogenic zone (EZ). At the same time, via the intracerebral electrodes it is possible to perform radiofrequency thermocoagulation (SEEG-guided RF-TC) with the aim of ablating and/or disrupting the EZ...
September 7, 2017: Epilepsia
https://www.readbyqxmd.com/read/28878343/plasmid-transfection-influences-the-readout-of-nonsense-mediated-mrna-decay-reporter-assays-in-human-cells
#5
Jennifer V Gerbracht, Volker Boehm, Niels H Gehring
Messenger RNA (mRNA) turnover is a crucial and highly regulated step of gene expression in mammalian cells. This includes mRNA surveillance pathways such as nonsense-mediated mRNA decay (NMD), which assesses the fidelity of transcripts and eliminates mRNAs containing a premature translation termination codon (PTC). When studying mRNA degradation pathways, reporter mRNAs are commonly expressed in cultivated cells. Traditionally, the molecular mechanism of NMD has been characterized using pairs of reporter constructs that express the same mRNA with ("PTC-containing mRNA") or without ("wild-type mRNA") a PTC...
September 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28877318/peripheral-vascular-endothelial-dysfunction-in-central-serous-chorioretinopathy
#6
Nan-Kai Wang, Yun Fu, Jung-Pan Wang, Eugene Yu-Chan Kang, An-Lun Wu, Yun-Ju Tseng, Lung-Kun Yeh, Kuan-Jen Chen, Wei-Chi Wu, Wan-Jing Ho, Chi-Chun Lai
Purpose: To explore the pathophysiology of central serous chorioretinopathy (CSC) by comparing peripheral vascular endothelium function in patients with CSC and control subjects. Methods: This study included 34 patients with CSC who attended the Department of Ophthalmology and 34 healthy age- and sex-matched healthy control subjects from a routine physical check-up population. Endothelium-dependent flow-mediated vasodilation (FMD) and endothelium-independent nitroglycerine-mediated vasodilation (NMD) were measured using high-resolution, two-dimensional ultrasonographic imaging of the brachial artery...
September 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28874147/assessing-the-activity-of-nonsense-mediated-mrna-decay-in-lung-cancer
#7
Meng Wang, Peiwei Zhang, Yufei Zhu, Xiangyin Kong, Zhenguo Zhang, Landian Hu
BACKGROUND: Inhibition of nonsense-mediated mRNA decay (NMD) in tumor cells can suppress tumor growth through expressing new antigens whose mRNAs otherwise are degraded by NMD. Thus NMD inhibition is a promising approach for developing cancer therapies. Apparently, the success of this approach relies on the basal NMD activity in cancer cells. If NMD is already strongly inhibited in tumors, the approach would not work. Therefore, it is crucial to assess NMD activity in cancers to forecast the efficacy of NMD-inhibition based therapy...
September 6, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28870597/spastic-paraplegia-type-4-a-novel-spast-splice-site-donor-mutation-and-expansion-of-the-phenotype-variability
#8
Toshitaka Kawarai, Celeste Montecchiani, Ryosuke Miyamoto, Fabrizio Gaudiello, Carlo Caltagirone, Yuishin Izumi, Ryuji Kaji, Antonio Orlacchio
Mutations in SPG4/SPAST are the most frequent molecular aetiology in the autosomal dominant form of hereditary spastic paraplegia (HSP). Loss-of-function and haploinsufficiency in SPAST have been demonstrated and the pure form of spastic paraplegia is a main clinical manifestation. This study is to explore the novel SPAST splice site donor variant, c.1004+3A>C, in seven patients from two families, one from Italy and the other from Japan. Exon 6 is skipped out by the variant, leading to a premature termination of translation, p...
September 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28866327/beyond-quality-control-the-role-of-nonsense-mediated-mrna-decay-nmd-in-regulating-gene-expression
#9
REVIEW
Sofia Nasif, Lara Contu, Oliver Mühlemann
Nonsense-mediated mRNA decay (NMD) has traditionally been described as a quality control system that rids cells of aberrant mRNAs with crippled protein coding potential. However, transcriptome-wide profiling of NMD deficient cells identified a plethora of seemingly intact mRNAs coding for functional proteins as NMD targets. This led to the view that NMD constitutes an additional post-transcriptional layer of gene expression control involved in the regulation of many different biological pathways. Here, we review our current knowledge about the role of NMD in embryonic development and tissue-specific cell differentiation...
September 1, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28865216/coagulology-biochemical-profile-and-muscle-pathology-in-calves-diagnosed-with-nutritional-muscular-dystrophy
#10
K Żarczyńska, W Baumgartner, P Sobiech
The aim of this study was to explain the correlations between selenium deficiency, hemostatic and biochemical disorders, and the progression of pathological changes in calves diagnosed with nutritional muscular dystrophy (NMD). The study was performed on 20 calves with supplementation of 8 ml selenium and vitamin E preparation and 20 calves with symptoms of NMD. Blood was sampled from calves aged 5, 12 and 19 days. On day 19, samples of the biceps femoris muscle were collected from 6 animals in each group for histopathological analysis...
March 1, 2017: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28841713/processing-of-opa1-with-a-novel-n-terminal-mutation-in-patients-with-autosomal-dominant-optic-atrophy-escape-from-nonsense-mediated-decay
#11
Aneta Ścieżyńska, Ewelina Ruszkowska, Kamil Szulborski, Katarzyna Rydz, Joanna Wierzbowska, Joanna Kosińska, Marek Rękas, Rafał Płoski, Jacek Paweł Szaflik, Monika Ołdak
Autosomal Dominant Optic Atrophy (ADOA) is the most common dominantly inherited optic neuropathy. In the majority of patients it is caused by OPA1 mutations and those predicted to introduce a premature termination codon (PTC) are frequently detected. Transcripts containing PTC may be degraded by nonsense-mediated mRNA decay (NMD), however very little is known about an effect of OPA1 mutations on NMD activation. Here, using a combination of linkage analysis and DNA sequencing, we have identified a novel c.91C>T OPA1 mutation with a putative premature stop codon (Q31*), which segregated with ADOA in two Polish families...
2017: PloS One
https://www.readbyqxmd.com/read/28838934/management-of-cardiac-involvement-associated-with-neuromuscular-diseases-a-scientific-statement-from-the-american-heart-association
#12
REVIEW
Brian Feingold, William T Mahle, Scott Auerbach, Paula Clemens, Andrea A Domenighetti, John L Jefferies, Daniel P Judge, Ashwin K Lal, Larry W Markham, W James Parks, Takeshi Tsuda, Paul J Wang, Shi-Joon Yoo
For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limited knowledge about disease-specific cardiovascular pathogenesis and course-modifying interventions. The overlay of compromise in peripheral muscle function and other organ systems, such as the lungs, also makes the simple application of endorsed adult or pediatric heart failure guidelines to the NMD population problematic...
August 24, 2017: Circulation
https://www.readbyqxmd.com/read/28834196/advanced-cell-based-modeling-of-the-royal-disease-characterization-of-the-mutated-f9-mrna
#13
L Martorell, E Luce, J L Vazquez, Y Richaud-Patin, S Jimenez-Delgado, I Corrales, N Borras, S Casacuberta-Serra, A Weber, R Parra, C Altisent, A Follenzi, A Dubart-Kupperschmitt, A Raya, F Vidal, J Barquinero
BACKGROUND: The royal disease (RD) is a form of hemophilia B that affected many descendants of Queen Victoria in the 19(th) and 20(th) centuries. It was found to be due to the mutation F9 c.278-3A>G. OBJECTIVE: To generate a physiological cell model of the disease and to study F9 expression at the RNA level. METHODS: Using fibroblasts from skin biopsies of a previously identified hemophilic patient bearing the F9 c.278-3A>G mutation and his mother, we generated induced pluripotent stem cells (iPSCs)...
August 21, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28797108/natural-disease-history-of-mouse-models-for-limb-girdle-muscular-dystrophy-types-2d-and-2f
#14
S Pasteuning-Vuhman, K Putker, C L Tanganyika-de Winter, J W Boertje-van der Meulen, L van Vliet, M Overzier, J J Plomp, A Aartsma-Rus, M van Putten
Limb-girdle muscular dystrophy types 2D and 2F (LGMD 2D and 2F) are autosomal recessive disorders caused by mutations in the alpha- and delta sarcoglycan genes, respectively, leading to severe muscle weakness and degeneration. The cause of the disease has been well characterized and a number of animal models are available for pre-clinical studies to test potential therapeutic interventions. To facilitate transition from drug discovery to clinical trials, standardized procedures and natural disease history data were collected for these mouse models...
2017: PloS One
https://www.readbyqxmd.com/read/28765281/p38-mapk-inhibits-nonsense-mediated-rna-decay-in-response-to-persistent-dna-damage-in-non-cycling-cells
#15
Andrew Nickless, Abigael Cheruiyot, Kevin C Flanagan, David Piwnica-Worms, Sheila A Stewart, Zhongsheng You
Persistent DNA damage induces profound alterations in gene expression, which in turn influence tissue homeostasis, tumorigenesis, and cancer treatment outcome. However, the underlying mechanism for the gene expression reprogramming induced by persistent DNA damage remains poorly understood. Here, using a highly effective bioluminescence-based reporter system and other tools, we report that persistent DNA damage inhibits nonsense-mediated RNA decay (NMD), an RNA surveillance and gene-regulatory pathway, in noncycling cells...
August 1, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28763028/rous-sarcoma-virus-rna-stability-element-inhibits-deadenylation-of-mrnas-with-long-3-utrs
#16
Vidya Balagopal, Karen L Beemon
All retroviruses use their full-length primary transcript as the major mRNA for Group-specific antigen (Gag) capsid proteins. This results in a long 3' untranslated region (UTR) downstream of the termination codon. In the case of Rous sarcoma virus (RSV), there is a 7 kb 3'UTR downstream of the gag terminator, containing the pol, env, and src genes. mRNAs containing long 3'UTRs, like those with premature termination codons, are frequently recognized by the cellular nonsense-mediated mRNA decay (NMD) machinery and targeted for degradation...
August 1, 2017: Viruses
https://www.readbyqxmd.com/read/28754723/a-functional-link-between-bir1-and-the-saccharomyces-cerevisiae-ctf19-kinetochore-complex-revealed-through-quantitative-fitness-analysis
#17
Vasso Makrantoni, Adam Ciesiolka, Conor Lawless, Josefin Fernius, Adele Marston, David Lydall, Michael J R Stark
The chromosomal passenger complex (CPC) is a key regulator of eukaryotic cell division, consisting of the protein kinase Aurora B/Ipl1 in association with its activator (INCENP/Sli15) and two additional proteins (Survivin/Bir1 and Borealin/Nbl1). Here, we report a genome-wide genetic interaction screen in Saccharomyces cerevisiae using the bir1-17 mutant, identifying through quantitative fitness analysis deletion mutations that act as enhancers and suppressors. Gene knockouts affecting the Ctf19 kinetochore complex were identified as the strongest enhancers of bir1-17, while mutations affecting the large ribosomal subunit or the mRNA nonsense-mediated decay pathway caused strong phenotypic suppression...
September 7, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28753203/management-of-neuromuscular-diseases-and-spinal-muscular-atrophy-in-latin-america
#18
REVIEW
S Monges, A Rosa
Latin America (LA) has a population of ~645 million people distributed over 33 countries with marked political, cultural, and economic differences. In LA, patients with inherited neuromuscular diseases (NMD) often do not have access to specialized medical centres and many of them go undiagnosed. General management and care of spinal muscular dystrophy (SMA) patients in the region varies due to heterogeneous health care. An active generation of young clinical neurologists is being trained for the specialized care of SMA and other NM patients, both in the private and public sectors...
July 28, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28752871/understanding-the-mobilisation-of-metal-pollution-associated-with-historical-mining-in-a-carboniferous-upland-catchment
#19
Magaly Valencia-Avellan, Rebecca Slack, Anthony Stockdale, Robert John George Mortimer
Point and diffuse pollution from metal mining has led to severe environmental damage worldwide. Mine drainage is a significant problem for riverine ecosystems, it is commonly acidic (AMD), but neutral mine drainage (NMD) can also occur. A representative environment for studying metal pollution from NMD is provided by carboniferous catchments characterised by a circumneutral pH and high concentrations of carbonates, supporting the formation of secondary metal-minerals as potential sinks of metals. The present study focuses on understanding the mobility of metal pollution associated with historical mining in a carboniferous upland catchment...
August 16, 2017: Environmental Science. Processes & Impacts
https://www.readbyqxmd.com/read/28743738/ptc-readthrough-in-human-cells-occurs-in-novel-cytoplasmic-foci-and-requires-upf-proteins
#20
Jieshuang Jia, Elisabeth Werkmeister, Sara Gonzalez-Hilarion, Catherine Leroy, Dieter C Gruenert, Frank Lafont, David Tulasne, Fabrice Lejeune
Nonsense-mutation-containing messenger ribonucleoprotein particles (mRNPs) transit through cytoplasmic foci called P-bodies before undergoing nonsense-mediated mRNA decay (NMD), a cytoplasmic mRNA surveillance mechanism. This study shows that the cytoskeleton modulates transport of nonsense-mutation-containing mRNPs to and from P-bodies. Impairing the integrity of cytoskeleton causes inhibition of NMD. The cytoskeleton thus plays a crucial role in NMD. Interestingly, disruption of actin filaments results in both inhibition of NMD and activation of readthrough, while disruption of microtubules causes only NMD inhibition...
July 25, 2017: Journal of Cell Science
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