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https://www.readbyqxmd.com/read/28549128/atad3-gene-cluster-deletions-cause-cerebellar-dysfunction-associated-with-altered-mitochondrial-dna-and-cholesterol-metabolism
#1
Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice L R Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M Turner, P Ian Andrews, Jan Smeitink, Johannes N Spelbrink, Simon J Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J Holt, David R Thorburn, Antonella Spinazzola
Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. Here we characterize large biallelic deletions in the region encoding the ATAD3C, ATAD3B and ATAD3A genes. Although high homology complicates genomic analysis of the ATAD3 defects, they can be identified by targeted analysis of standard single nucleotide polymorphism array and whole exome sequencing data...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28548856/decorated-cyclopentadienes-from-acetylene-and-ketones-in-just-two-steps
#2
Elena Yu Schmidt, Ivan A Bidusenko, Igor' A Ushakov, Alexander V Vashchenko, Boris A Trofimov
The products of the one-pot assembly of acetylene and ketones in the KOH/DMSO system, 7-methylene-6,8-dioxabicyclo[3.2.1]octanes, undergo an acid-catalyzed (CF3COOH, room temperature) rearrangement to rarely substituted cyclopentadienes in good-to-excellent yields. The mechanism of the rearrangement has been supported by the isolation and corresponding transformations of two intermediates.
May 26, 2017: Organic Letters
https://www.readbyqxmd.com/read/28547295/high-loading-dose-of-microencapsulated-gliclazide-formulation-exerted-a-hypoglycaemic-effect-on-type-1-diabetic-rats-and-incorporation-of-a-primary-deconjugated-bile-acid-diminished-the-hypoglycaemic-antidiabetic-effect
#3
Svetlana Golocorbin-Kon, Jelena Calasan, Boris Milijasevic, Sasa Vukmirovic, Mladena Lalic-Popovic, Momir Mikov, Hani Al-Salami
BACKGROUND AND OBJECTIVE: Gliclazide is a drug commonly used in type 2 diabetes mellitus. Recently, gliclazide has shown desirable pharmacological effects such as immunoregulatory and anti-clotting effects, which suggests potential applications in type 1 diabetes mellitus (T1DM). Gliclazide has variable absorption after oral administration, and thus using targeted-delivery techniques, such as microencapsulation, may optimise gliclazide absorption and potential applications in T1DM. Bile acids such as cholic acid have shown microcapsule-stabilising and controlled-release effects, and thus their incorporation into gliclazide microcapsules may further optimise gliclazide release, absorption and antidiabetic effects...
May 25, 2017: European Journal of Drug Metabolism and Pharmacokinetics
https://www.readbyqxmd.com/read/28546436/quantifying-wheat-sensitivities-to-environmental-constraints-to-dissect-g-x-e-in-the-field
#4
Boris Parent, Julien Bonneau, Lance Maphosa, Alex Kovalchuk, Peter Langridge, Delphine Fleury
Yield is subject to strong Genotype by Environment interactions (G x E) in the field, especially under abiotic constraints such as soil water deficit (Drought, D) and high temperature (Heat, H). Since environmental conditions show strong fluctuations during the whole crop cycle, geneticists usually do not consider the environmental measures as quantitative variables, but rather as factors in multi-environment analyses. Based on 11 experiments in a field platform with contrasted temperature and soil water deficit, we determined the periods of sensitivity to drought and heat constraints in wheat (Triticum aestivum L...
May 25, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28546342/intrinsic-frequency-response-patterns-in-mechano-sensory-neurons-of-the-leech
#5
Linda Fischer, Frank Scherbarth, Boris Chagnaud, Felix Felmy
Animals employ mechano-sensory systems to detect and explore their environment. Mechano-sensation encompasses stimuli like constant pressure, surface movement or vibrations at various intensities that need to be segregated in the central nervous system. Besides different receptor structures sensory filtering via intrinsic response properties could provide a convenient way to solve this problem. In leech, three major mechano-sensory cell types can be distinguished according to their stimulus sensitivity into nociceptive, pressure and touch cells...
May 25, 2017: Biology Open
https://www.readbyqxmd.com/read/28546308/dentate-gyrus-contributes-to-retrieval-as-well-as-encoding-evidence-from-context-fear-conditioning-recall-and-extinction
#6
Brian E Bernier, Anthony F Lacagnina, Adam Ayoub, Francis Shue, Boris V Zemelman, Franklin B Krasne, Michael R Drew
Dentate gyrus (DG) is widely thought to provide a teaching signal that enables hippocampal encoding of memories, but its role during retrieval is poorly understood. Some data and models suggest that DG plays no role in retrieval; others encourage the opposite conclusion. To resolve this controversy, we evaluated the effects of optogenetic inhibition of dorsal DG during context fear conditioning, recall, generalization, and extinction in male mice. We found that (1) inhibition during training impaired context fear acquisition; (2) inhibition during recall did not impair fear expression in the training context, unless mice had to distinguish between similar feared and neutral contexts; (3) inhibition increased generalization of fear to an unfamiliar context that was similar to a feared one and impaired fear expression in the conditioned context when it was similar to a neutral one; (4) inhibition impaired fear extinction...
May 25, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28546208/submillihertz-magnetic-spectroscopy-performed-with-a-nanoscale-quantum-sensor
#7
Simon Schmitt, Tuvia Gefen, Felix M Stürner, Thomas Unden, Gerhard Wolff, Christoph Müller, Jochen Scheuer, Boris Naydenov, Matthew Markham, Sebastien Pezzagna, Jan Meijer, Ilai Schwarz, Martin Plenio, Alex Retzker, Liam P McGuinness, Fedor Jelezko
Precise timekeeping is critical to metrology, forming the basis by which standards of time, length, and fundamental constants are determined. Stable clocks are particularly valuable in spectroscopy because they define the ultimate frequency precision that can be reached. In quantum metrology, the qubit coherence time defines the clock stability, from which the spectral linewidth and frequency precision are determined. We demonstrate a quantum sensing protocol in which the spectral precision goes beyond the sensor coherence time and is limited by the stability of a classical clock...
May 26, 2017: Science
https://www.readbyqxmd.com/read/28546182/response-to-comment-on-dissolved-organic-sulfur-in-the-ocean-biogeochemistry-of-a-petagram-inventory
#8
Boris P Koch, Kerstin B Ksionzek, Oliver J Lechtenfeld, S Leigh McCallister, Philippe Schmitt-Kopplin, Jana K Geuer, Walter Geibert
Dittmar et al proposed that mixing alone can explain our observed decrease in marine dissolved organic sulfur with age. However, their simple model lacks an explanation for the origin of sulfur-depleted organic matter in the deep ocean and cannot adequately reproduce our observed stoichiometric changes. Using radiocarbon age also implicitly models the preferential cycling of sulfur that they are disputing.
May 26, 2017: Science
https://www.readbyqxmd.com/read/28546148/translation-initiation-factor-eif4g1-preferentially-binds-yeast-transcript-leaders-containing-conserved-oligo-uridine-motifs
#9
Boris Zinshteyn, Maria F Rojas Duran, Wendy V Gilbert
Translational control of gene expression plays essential roles in cellular stress responses and organismal development by enabling rapid, selective, and localized control of protein production. Translational regulation depends on context-dependent differences in the protein output of mRNAs, but the key mRNA features that distinguish efficiently translated mRNAs are largely unknown. Here we comprehensively determined the RNA-binding preferences of the initiation factor eIF4G to assess whether this core translation initiation factor has intrinsic sequence preferences that may contribute to preferential translation of specific mRNAs...
May 25, 2017: RNA
https://www.readbyqxmd.com/read/28545161/classic-galactosemia-study-on-the-late-prenatal-development-of-galt-specific-activity-in-a-sheep-model
#10
Ana I Coelho, Jörgen Bierau, Martijn Lindhout, Jelle Achten, Boris W Kramer, M Estela Rubio-Gozalbo
BACKGROUND: Classic galactosemia results from deficient activity of galactose-1-phosphate uridylyltransferase (GALT), a key enzyme of galactose metabolism. Despite early diagnosis and early postnatal therapeutic intervention, patients still develop neurologic and fertility impairments. Prenatal developmental toxicity has been hypothesized as a determinant factor of disease. In order to shed light on the importance of prenatal GALT activity, several studies have examined GALT activity throughout development...
May 25, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28543996/self-assembly-of-perylenediimide-single-strand-dna-conjugates-employing-hydrophobic-interactions-and-dna-base-pairing-to-create-a-diverse-structural-space
#11
Frederick Lewis, Ashutosh Kumar Mishra, Haim Weissman, Elisha Krieg, Kevin A Voltaw, Martin McCullagh, Boris Rybtchiinski
The self-assembly behavior of DNA conjugates possessing a perylenediimide (PDI) head group and a single N-oligonucleotide tail has been investigated using a combination of optical spectroscopy and cryogenic transmission electron microscopy (cryo-TEM) imaging. In order to obtain insight into the interplay between DNA base pairing and PDI hydrophobic interactions we employed systematic variation in the length and composition of the oligo tails. Conjugates with short (TA)n or (CG)n oligo tails (n ≤ 3) form fibers (helical or nonhelical) constructed from -stacked PDI head groups with pendent oligo tails at room temperature in aqueous solution...
May 24, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/28543404/tumor-necrosis-factor-%C3%AE-induced-apoptosis-in-u937-cells-promotes-cathepsin-d-independent-stefin-b-degradation
#12
Katja Bidovec, Janja Božič, Iztok Dolenc, Boris Turk, Vito Turk, Veronika Stoka
Lysosomal cathepsins were previously found to be involved in tumor necrosis factor-α (TNFα)-induced apoptosis. However, there are opposing views regarding their role as either initiators or amplifiers of the signaling cascade as well as the order of molecular events during this process. In this study, we investigated the role of cathepsin D (catD) in TNFα/cycloheximide-induced apoptosis in U937 human monocytic cells. TNFα-induced apoptosis proceeds through caspase-8 activation, processing of the pro-apoptotic molecule Bid, mitochondrial membrane permeabilization, and caspase-3 activation...
May 20, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28542180/jupyter-and-galaxy-easing-entry-barriers-into-complex-data-analyses-for-biomedical-researchers
#13
Björn A Grüning, Eric Rasche, Boris Rebolledo-Jaramillo, Carl Eberhard, Torsten Houwaart, John Chilton, Nate Coraor, Rolf Backofen, James Taylor, Anton Nekrutenko
What does it take to convert a heap of sequencing data into a publishable result? First, common tools are employed to reduce primary data (sequencing reads) to a form suitable for further analyses (i.e., the list of variable sites). The subsequent exploratory stage is much more ad hoc and requires the development of custom scripts and pipelines, making it problematic for biomedical researchers. Here, we describe a hybrid platform combining common analysis pathways with the ability to explore data interactively...
May 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28542094/virtual-monoenergetic-imaging-and-iodine-perfusion-maps-improve-diagnostic-accuracy-of-dual-energy-computed-tomography-pulmonary-angiography-with-suboptimal-contrast-attenuation
#14
Doris Leithner, Julian L Wichmann, Thomas J Vogl, Jesko Trommer, Simon S Martin, Jan-Erik Scholtz, Boris Bodelle, Carlo N De Cecco, Taylor Duguay, John W Nance, U Joseph Schoepf, Moritz H Albrecht
OBJECTIVES: The aim of this study was to investigate the impact of virtual monoenergetic imaging (VMI+) and dual-energy computed tomography perfusion maps (DECT-PMs) on reader confidence and diagnostic accuracy in dual-energy computed tomography pulmonary angiography (DE-CTPA) studies with suboptimal contrast attenuation, compared with standard linearly blended reconstruction series. MATERIALS AND METHODS: Dual-energy computed tomography pulmonary angiography examinations with suboptimal contrast attenuation of 68 patients with suspected pulmonary embolism (PE) were included in this institutional review board-approved retrospective study...
May 24, 2017: Investigative Radiology
https://www.readbyqxmd.com/read/28541822/materialism-moderates-the-impact-of-mortality-salience-on-impulsive-tendencies-toward-luxury-brands
#15
Catherine Audrin, Boris Cheval, Julien Chanal
Luxury goods have been shown to help individuals coping with death-related anxiety. However, the extent to which the symbolic value allocated to possessions (i.e., materialism) moderates this effect is still unclear. Here, we investigated the impact of materialism on impulsive approach tendencies toward luxury clothing brands in a context of mortality salience. Results showed that the impact of mortality salience was moderated by materialism with lower impulsive approach tendencies toward luxury clothing brands observed in non-materialistic participants...
May 25, 2017: Death Studies
https://www.readbyqxmd.com/read/28541541/intraoperative-chlorpromazine-treatment-for-prevention-of-radial-artery-spasm-in-aortocoronary-bypass-grafting
#16
Vladimir Shipulin, Boris Kozlov, Georgiy Nasrashvili, Vasiliy Zatolokin, Mikhael Kuznetsov, Dmitry Panfilov, Sergey Afanas'ev
A detailed description of intraoperative prevention of radial artery graft spasm using a solution of the calmodulin inhibitor chlorpromazine is presented. This method is used in direct myocardial revascularization and can reliably prevent perioperative spasm of radial artery grafts, as confirmed by intraoperative flow measurement, bypass angiography in the postoperative period, and in vitro experimental data.
May 25, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28541457/bumped-kinase-inhibitor-gastrointestinal-exposure-is-necessary-to-treat-cryptosporidium-infection
#17
Samuel L M Arnold, Ryan Choi, Matthew A Hulverson, Deborah A Schaefer, Sumiti Vinayak, Rama S R Vidadala, Molly C McCloskey, Grant R Whitman, Wenlin Huang, Lynn K Barrett, Kayode K Ojo, Erkang Fan, Dustin J Maly, Michael W Riggs, Boris Striepen, Wesley C Van Voorhis
There is a substantial need for novel therapeutics to combat the widespread impact caused by Crytosporidium infection. However, there is a lack of knowledge on which drug pharmacokinetic characteristics are key to generate an in vivo response specifically if systemic drug exposure is crucial for in vivo efficacy. To identify which pharmacokinetic properties are correlated with in vivo efficacy, we generated physiologically based pharmacokinetic (PBPK) models to simulate systemic and gastrointestinal (GI) drug concentrations for a series of bumped kinase inhibitors (BKI) that have nearly identical in vitro potency against Cryptosporidium but display divergent pharmacokinetic properties...
May 24, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28541183/pausing-guides-rna-folding-to-populate-transiently-stable-rna-structures-for-riboswitch-based-transcription-regulation
#18
Hannah Steinert, Florian Sochor, Anna Wacker, Janina Buck, Christina Helmling, Fabian Hiller, Sara Keyhani, Jonas Noeske, Steffen Kaspar Grimm, Martin M Rudolph, Heiko Keller, Rachel Anne Mooney, Robert Landick, Beatrix Suess, Boris Fürtig, Jens Wöhnert, Harald Schwalbe
In bacteria, the regulation of gene expression by cis-acting transcriptional riboswitches located in the 5'-untranslated regions of messenger RNA requires the temporal synchronization of RNA synthesis and ligand binding-dependent conformational refolding. Ligand binding to the aptamer domain of the riboswitch induces premature termination of the mRNA synthesis of ligand-associated genes due to the coupled formation of 3'-structural elements acting as terminators. To date, there has been no high resolution structural description of the concerted process of synthesis and ligand-induced restructuring of the regulatory RNA element...
May 25, 2017: ELife
https://www.readbyqxmd.com/read/28540644/the-epigenetic-machinery-in-vascular-dysfunction-and-hypertension
#19
REVIEW
Emile Levy, Schohraya Spahis, Jean-Luc Bigras, Edgard Delvin, Jean-Michel Borys
Hypertension (HT) is among the major components of the metabolic syndrome, i.e., obesity, dyslipidemia, and hyperglycemia/insulin resistance. It represents a significant health problem with foremost risks for chronic cardiovascular disease and a significant cause of morbidity and mortality worldwide. Therefore, it is not surprising that this disorder constitutes a serious public health concern. Although multiple studies have stressed the multifactorial nature of HT, the pathogenesis remains largely unknown...
June 2017: Current Hypertension Reports
https://www.readbyqxmd.com/read/28540419/therapy-assessment-in-prostate-cancer-using-choline-and-psma-pet-ct
#20
REVIEW
Francesco Ceci, Ken Herrmann, Boris Hadaschik, Paolo Castellucci, Stefano Fanti
While PET with non-FDG tracers (mainly choline and Ga-PSMA) has commonly been used for restaging in men with biochemically recurrent prostate cancer, as well as for primary staging, it is only recently that a few preliminary studies have addressed the possible use of PET for monitoring the response to systemic therapy of metastatic disease, especially innovative treatments such as abiraterone and enzalutamide. This article aims to evaluate the role of PET imaging with different non-FDG radiotracers for assessment of therapy in advanced prostate cancer patients...
May 25, 2017: European Journal of Nuclear Medicine and Molecular Imaging
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