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https://www.readbyqxmd.com/read/29334995/antisense-suppression-of-the-nonsense-mediated-decay-factor-upf3b-as-a-potential-treatment-for-diseases-caused-by-nonsense-mutations
#1
Lulu Huang, Audrey Low, Sagar S Damle, Melissa M Keenan, Steven Kuntz, Susan F Murray, Brett P Monia, Shuling Guo
BACKGROUND: About 11% of all human genetic diseases are caused by nonsense mutations that generate premature translation termination codons (PTCs) in messenger RNAs (mRNA). PTCs not only lead to the production of truncated proteins, but also often result in  decreased mRNA abundance due to  nonsense-mediated mRNA decay (NMD). Although pharmacological inhibition of NMD could be an attractive therapeutic approach for the treatment of diseases caused by nonsense mutations, NMD also regulates the expression of 10-20% of the normal transcriptome...
January 15, 2018: Genome Biology
https://www.readbyqxmd.com/read/29315061/acr-bi-rads-assessment-category-4-subdivisions-in-diagnostic-mammography-utilization-and-outcomes-in-the-national-mammography-database
#2
Mai Elezaby, Geng Li, Mythreyi Bhargavan-Chatfield, Elizabeth S Burnside, Wendy B DeMartini
Purpose To determine the utilization and positive predictive value (PPV) of the American College of Radiology (ACR) Breast Imaging Data and Reporting System (BI-RADS) category 4 subdivisions in diagnostic mammography in the National Mammography Database (NMD). Materials and Methods This study involved retrospective review of diagnostic mammography data submitted to the NMD from January 1, 2008 to December 30, 2014. Utilization rates of BI-RADS category 4 subdivisions were compared by year, facility (type, location, census region), and examination (indication, finding type) characteristics...
January 9, 2018: Radiology
https://www.readbyqxmd.com/read/29298944/neuronal-migration-disorders
#3
Benjamin Roberts
Enhanced understanding of brain development has led to increased awareness of the links between disorders of neuronal migration and seizure disorders. A significant number of patients with intractable epilepsy have cortical malformations that originated during neuronal migration. Magnetic resonance imaging plays a primary role in the diagnosis and classification of neuronal migration disorders. These disorders include polymicrogyria, schizencephaly, lissencephaly, heterotopia, and focal cortical dysplasia. Imaging protocols continue to evolve to provide critical assessment of anatomic and physiologic traits of these disorders to better treat and prevent seizures...
January 2018: Radiologic Technology
https://www.readbyqxmd.com/read/29298901/five-year-follow-up-and-outcomes-of-noninvasive-ventilation-in-subjects-with-neuromuscular-diseases
#4
Mi Ri Suh, Won Ah Choi, Dong Hyun Kim, Jang Woo Lee, Eun Young Kim, Seong-Woong Kang
INTRODUCTION: The purpose of this study was to investigate the 5-year outcomes of noninvasive ventilation (NIV) application in different neuromuscular disease (NMD) groups. METHODS: We categorized 180 subjects who had initiated NIV between March 2001 and August 2009 into 4 groups and followed them for > 5 y. The NIV maintenance rate and average duration, applying time, and forced vital capacity (FVC) were investigated at the time NIV was initiated and 5 y after NIV initiation in each group...
January 3, 2018: Respiratory Care
https://www.readbyqxmd.com/read/29282598/upf-proteins-highly-conserved-factors-involved-in-nonsense-mrna-mediated-decay
#5
REVIEW
Puneet Gupta, Yan-Ruide Li
Over 10% of genetic diseases are caused by mutations that introduce a premature termination codon in protein-coding mRNA. Nonsense-mediated mRNA decay (NMD) is an essential cellular pathway that degrades these mRNAs to prevent the accumulation of harmful partial protein products. NMD machinery is also increasingly appreciated to play a role in other essential cellular functions, including telomere homeostasis and the regulation of normal mRNA turnover, and is misregulated in numerous cancers. Hence, understanding and designing therapeutics targeting NMD is an important goal in biomedical science...
December 27, 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/29247835/amlexanox-provides-a-potential-therapy-for-nonsense-mutations-in-the-lysosomal-storage-disorder-aspartylglucosaminuria
#6
Antje Banning, Manuel Schiff, Ritva Tikkanen
Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by mutations in the gene for aspartylglucosaminidase (AGA). This enzyme participates in glycoprotein degradation in lysosomes. AGU results in progressive mental retardation, and no curative therapy is currently available. We have here characterized the consequences of AGA gene mutations in a compound heterozygous patient who exhibits a missense mutation producing a Ser72Pro substitution in one allele, and a nonsense mutation Trp168X in the other...
December 13, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29242843/systemic-oxidoreductive-balance-and-vascular-function-in-individuals-without-clinical-manifestation-of-atherosclerosis
#7
Marcin Majer, Daniel Gackowski, Rafał Różalski, Agnieszka Siomek-Górecka, Ryszard Oliński, Jacek Budzyński
Introduction: Endothelial dysfunction is recognized as the earliest disorder in the development of atherosclerosis, in the pathogenesis of which oxidative stress plays a crucial role. The aim of this study was to determine the relationships between non-invasive parameters of vascular dysfunction and oxidative stress. Material and methods: Forty-eight individuals without clinical manifestation of atherosclerosis were studied. The plasma concentrations of the following were determined in all 48 subjects: retinol, ascorbic acid, α-tocopherol and uric acid, as well as the products of oxidative DNA damage repair: 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodG) in blood leukocytes and urine, and 8-oxo-7,8-dihydroguanine (8-oxoGua) in urine...
2017: Archives of Medical Sciences. Atherosclerotic Diseases
https://www.readbyqxmd.com/read/29237418/a-donor-splice-site-mutation-in-cisd2-generates-multiple-truncated-non-functional-isoforms-in-wolfram-syndrome-type-2-patients
#8
Monica Cattaneo, Lucia La Sala, Maurizio Rondinelli, Edoardo Errichiello, Orsetta Zuffardi, Annibale Alessandro Puca, Stefano Genovese, Antonio Ceriello
BACKGROUND: Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of Wolfram syndrome type 2 (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellitus, optic atrophy, peptic ulcer bleeding and defective platelet aggregation. Four mutations in the CISD2 gene have been reported. Among these mutations, the homozygous c.103 + 1G > A substitution was identified in the donor splice site of intron 1 in two Italian sisters and was predicted to cause a exon 1 to be skipped...
December 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29236980/simultaneous-determination-of-tizanidine-nimesulide-aceclofenac-and-paracetamol-in-tablets-and-biological-fluids-using-micellar-liquid-chromatography
#9
Fathalla Belal, Mahmoud A Omar, Sayed Derayea, Mohamed A Hammad, Sahar Zayed, Safaa F Saleh
A simple, sensitive and rapid micellar liquid chromatographic method was developed and validated for simultaneous determination of four drugs, namely, paracetamol (PAR), tizanidine (TZD), aceclofenac (ACF) and nimesulide (NMD). Good chromatographic separation was achieved using Cyano column and micellar mobile phase consisting of 120 mM sodium dodecyl sulfate, 25 mM phosphate buffer and 10% (V/V) butanol. The pH was adjusted to three using phosphoric acid. The total retention time was below 10 min. The analysis was performed at a flow rate of 1 mL/min and a column temperature of 40°C with direct UV detection at 230 nm...
December 11, 2017: Journal of Chromatographic Science
https://www.readbyqxmd.com/read/29236296/rna-decay-factor-upf1-promotes-protein-decay-a-hidden-talent
#10
REVIEW
Terra-Dawn M Plank, Miles F Wilkinson
The RNA-binding protein, UPF1, is best known for its central role in the nonsense-mediated RNA decay (NMD) pathway. Feng et al. now report a new function for UPF1-it is an E3 ubiquitin ligase that specifically promotes the decay of a key pro-muscle transcription factor: MYOD. UPF1 achieves this through its RING-like domain, which confers ubiquitin E3 ligase activity. Feng et al. provide evidence that the ability of UPF1 to destabilize MYOD represses myogenesis. In the future, it will be important to define other protein substrates of UPF1-driven ubiquitination and to determine whether this biochemical activity is responsible for some of UPF1's previously defined biological functions, including in development and stress responses...
December 13, 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/29236262/studying-nonsense-mediated-mrna-decay-in-mammalian-cells-using-a-multicolored-bioluminescence-based-reporter-system
#11
Andrew Nickless, Zhongsheng You
The nonsense-mediated mRNA decay (NMD) pathway degrades aberrant transcripts containing premature translation termination codons (PTCs) and also regulates the levels of many normal mRNAs containing NMD-inducing features. The activity of this pathway varies considerably in different cell types and can change in response to developmental and environmental cues. Modulating NMD activity represents a potential therapeutic avenue for certain genetic disorders and cancers. Simple reporter systems capable of faithfully assessing NMD activity in mammalian cells greatly facilitate both basic and translational research on NMD...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29236261/reactivation-assay-to-identify-direct-targets-of-the-nonsense-mediated-mrna-decay-pathway-in-drosophila
#12
Jonathan O Nelson, Mark M Metzstein
Transcriptome analysis provides a snapshot of cellular gene expression and is used to determine how cells and organisms respond to genetic or environmental changes. Identifying the transcripts whose expression levels are regulated directly by the manipulation being examined from those whose expression changes as a secondary cause from the primary changes requires additional analyses. Here we present a technique used to distinguish direct targets of the nonsense-mediated mRNA decay (NMD) pathway in Drosophila from secondary gene expression effects caused by loss of this pathway...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29236260/generation-of-cell-lines-stably-expressing-a-fluorescent-reporter-of-nonsense-mediated-mrna-decay-activity
#13
Nadezhda M Markina, Anton P Pereverzev, Dmitry B Staroverov, Konstantin A Lukyanov, Nadya G Gurskaya
Nonsense-mediated mRNA decay (NMD) is a mechanism of mRNA surveillance ubiquitous among eukaryotes. Importantly, NMD not only removes aberrant transcripts with premature stop codons, but also regulates expression of many normal genes. A recently introduced dual-color fluorescent protein-based reporter enables analysis of NMD activity in live cells. In this chapter we describe the method to generate stable transgenic cell lines expressing the splicing-dependent NMD reporter using consecutive steps of lentivirus transduction and Tol2 transposition...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29236259/identifying-cellular-nonsense-mediated-mrna-decay-nmd-targets-immunoprecipitation-of-phosphorylated-upf1-followed-by-rna-sequencing-p-upf1-rip-seq
#14
Tatsuaki Kurosaki, Mainul Hoque, Lynne E Maquat
Recent progress in the technology of transcriptome-wide high-throughput sequencing has revealed that nonsense-mediated mRNA decay (NMD) targets ~10% of physiologic transcripts for the purpose of tuning gene expression in response to various environmental conditions. Regardless of the eukaryote studied, NMD requires the ATP-dependent RNA helicase upframeshift 1 (UPF1). It was initially thought that cellular NMD targets could be defined by their binding to steady-state UPF1, which is largely hypophosphorylated...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29235495/identification-of-nonsense-mediated-mrna-decay-pathway-as-a-critical-regulator-of-p53-isoform-%C3%AE
#15
Lauren E Cowen, Yi Tang
Human TP53 gene encodes the tumor suppressor p53 and, via alternative splicing, the p53β and γ isoforms. Numerous studies have shown that p53β/γ can modulate p53 functions and are critically involved in regulation of cellular response to stress conditions. However, it is not fully understood how the β and γ isoforms are regulated following splicing. Using gene targeting and RNAi, we showed that depletion of the nonsense-mediated mRNA decay (NMD) factor SMG7 or UPF1 significantly induced p53β but had minimal effect on p53γ...
December 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29214567/natural-history-trial-readiness-and-gene-discovery-advances-in-patient-registries-for-neuromuscular-disease
#16
Rachel Thompson, Agata Robertson, Hanns Lochmüller
Inherited neuromuscular diseases (NMDs) are genetic disorders that affect the skeletal muscles or the nerves controlling muscle function. With a new generation of diagnostic options and recent advances in translational research improving the opportunities for therapy development for these rare conditions, capturing patient information in databases collecting a range of clinical and genetic data together with contact details has assumed an increasingly important role in trial planning and recruitment as well as natural history data collection...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29210305/detection-of-early-nocturnal-hypoventilation-in-neuromuscular-disorders
#17
Federica Trucco, Marina Pedemonte, Chiara Fiorillo, Hui-Leng Tan, Annalisa Carlucci, Giacomo Brisca, Paola Tacchetti, Claudio Bruno, Carlo Minetti
Objective Nocturnal hypoventilation (NH) is a complication of respiratory involvement in neuromuscular disorders (NMD) that can evolve into symptomatic daytime hypercapnia if not treated proactively with non-invasive ventilation. This study aimed to assess whether NH can be detected in the absence of other signs of nocturnal altered gas exchange. Methods We performed nocturnal transcutaneous coupled (tc) pCO2/SpO2 monitoring in 46 consecutive cases of paediatric-onset NMD with a restrictive respiratory defect (forced vital capacity < 60%)...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/29199149/ultra-high-mass-multimer-analysis-of-protein-1a-capping-domains-by-a-silicon-nanomembrane-detector
#18
H C Shin, D Deterra, J Park, H Kim, M Nishikiori, Ch Uetrecht, P G Ahlquist, M Arbulu, R H Blick
Conventional time of flight ion detectors are based on secondary electron multipliers encountering a significant loss in detection efficiency, sensitivity and resolution with protein mass above 50kDa. In this work we employ a silicon nanomembrane detector in a Matrix-Assisted Laser Desorption/Ionization coupled to time of flight (MALDI-TOF) mass spectrometer. The operating principle relies on phonon-assisted field emission with excellent performance in the high mass range from 0.001-2MDa. In addition to the analysis of standard proteins the nanomembrane detector (NMD) has the potential for the detection and structural investigation of complex macromolecular assemblies through non-covalent interactions...
November 30, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/29196274/neuromuscular-diseases-diagnosis-and-management
#19
REVIEW
P Mary, L Servais, R Vialle
Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e.g., toe walking) or deformity (e.g., pes cavus or scoliosis) suggesting a need for orthopaedic attention or because orthopaedic abnormalities requiring treatment develop during the course of a known NMD...
November 28, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/29192227/conservation-of-nonsense-mediated-mrna-decay-complex-components-throughout-eukaryotic-evolution
#20
Barry Causier, Zhen Li, Riet De Smet, James P B Lloyd, Yves Van de Peer, Brendan Davies
Nonsense-mediated mRNA decay (NMD) is an essential eukaryotic process regulating transcript quality and abundance, and is involved in diverse processes including brain development and plant defenses. Although some of the NMD machinery is conserved between kingdoms, little is known about its evolution. Phosphorylation of the core NMD component UPF1 is critical for NMD and is regulated in mammals by the SURF complex (UPF1, SMG1 kinase, SMG8, SMG9 and eukaryotic release factors). However, since SMG1 is reportedly missing from the genomes of fungi and the plant Arabidopsis thaliana, it remains unclear how UPF1 is activated outside the metazoa...
November 30, 2017: Scientific Reports
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