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https://www.readbyqxmd.com/read/28327087/nt5c2-novel-splicing-variant-expands-the-phenotypic-spectrum-of-spastic-paraplegia-spg45-case-report-of-a-new-member-of-thin-corpus-callosum-spg-subgroup
#1
Mahmoud F Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki, Alice Abdel Aleem
BACKGROUND: Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA components, are regulating the cell metabolism, having roles in signal transduction, energy preservation and cellular repair. Genetic defects in nucleotide metabolism related genes have been only recently implicated in brain and neurodegenerative diseases' pathogenesis...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28326890/functional-and-molecular-correlates-following-single-and-repeated-rat-closed-head-concussion-indices-of-vulnerability-following-brain-injury
#2
Andrea Mountney, Angela Boutte, Casandra M Cartagena, William J Flerlage, David Johnson, Chanyang Rho, Xi-Chun M Lu, Angela M Yarnell, Sean R Marcsisin, Jason Sousa, Chau Vuong, Victor E Zottig, Lai Yee Leung, Ying Deng-Bryant, Janice Gilsdorf, Frank C Tortella, Deborah A Shear
Closed-head concussive injury is one of the most common causes of traumatic brain injury (TBI). Isolated concussions frequently produce acute neurological impairments; however, individuals typically recover spontaneously within a short time frame. In contrast, brain injuries resulting from multiple concussions can result in cumulative damage and elevated risk of developing chronic brain pathologies, including chronic traumatic encephalopathy (CTE). Increased attention has focused on identification of diagnostic markers that can prognostically serve as indices of brain health after injury, revealing the temporal profile of vulnerability to a second insult...
March 22, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28326772/illuminating-the-reaction-pathways-of-viromimetic-assembly
#3
Hande E Cingil, Emre B Boz, Giovanni Biondaro, Renko de Vries, Martien A Cohen Stuart, Daniela J Kraft, Paul van der Schoot, Joris Sprakel
The co-assembly of well-defined biological nanostructures relies on a delicate balance between attractive and repulsive interactions between biomolecular building blocks. Viral capsids are a prototypical example, where coat proteins exhibit not only self-interactions but also interact with the cargo they encapsulate. In Nature the balance between antagonistic and synergistic interactions is evolved to avoid kinetic trapping and polymorphism. To date it has remained a major challenge to experimentally disentangle the complex kinetic reaction pathways that underlie successful co-assembly of biomolecular building blocks in a non-invasive approach with high temporal resolution...
March 22, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28326315/genomewide-expression-and-functional-interactions-of-genes-under-drought-stress-in-maize
#4
Nepolean Thirunavukkarasu, Rinku Sharma, Nidhi Singh, Kaliyugam Shiriga, Sweta Mohan, Swati Mittal, Shikha Mittal, Mallana Gowdra Mallikarjuna, Atmakuri Ramakrishna Rao, Prasanta Kumar Dash, Firoz Hossain, Hari Shanker Gupta
A genomewide transcriptome assay of two subtropical genotypes of maize was used to observe the expression of genes at seedling stage of drought stress. The number of genes expressed differentially was greater in HKI1532 (a drought tolerant genotype) than in PC3 (a drought sensitive genotype), indicating primary differences at the transcriptional level in stress tolerance. The global coexpression networks of the two genotypes differed significantly with respect to the number of modules and the coexpression pattern within the modules...
2017: International Journal of Genomics
https://www.readbyqxmd.com/read/28326191/global-histone-modification-fingerprinting-in-human-cells-using-epigenetic-reverse-phase-protein-array
#5
Marina Partolina, Hazel C Thoms, Kenneth G MacLeod, Giovanny Rodriguez-Blanco, Matthew N Clarke, Anuroop V Venkatasubramani, Rima Beesoo, Vladimir Larionov, Vidushi S Neergheen-Bhujun, Bryan Serrels, Hiroshi Kimura, Neil O Carragher, Alexander Kagansky
The balance between acetylation and deacetylation of histone proteins plays a critical role in the regulation of genomic functions. Aberrations in global levels of histone modifications are linked to carcinogenesis and are currently the focus of intense scrutiny and translational research investments to develop new therapies, which can modify complex disease pathophysiology through epigenetic control. However, despite significant progress in our understanding of the molecular mechanisms of epigenetic machinery in various genomic contexts and cell types, the links between epigenetic modifications and cellular phenotypes are far from being clear...
2017: Cell Death Discovery
https://www.readbyqxmd.com/read/28325877/dual-utility-nls-drives-rnf169-dependent-dna-damage-responses
#6
Liwei An, Yiyang Jiang, Howin H W Ng, Ellen P S Man, Jie Chen, Ui-Soon Khoo, Qingguo Gong, Michael S Y Huen
Loading of p53-binding protein 1 (53BP1) and receptor-associated protein 80 (RAP80) at DNA double-strand breaks (DSBs) drives cell cycle checkpoint activation but is counterproductive to high-fidelity DNA repair. ring finger protein 169 (RNF169) maintains the balance by limiting the deposition of DNA damage mediator proteins at the damaged chromatin. We report here that this attribute is accomplished, in part, by a predicted nuclear localization signal (NLS) that not only shuttles RNF169 into the nucleus but also promotes its stability by mediating a direct interaction with the ubiquitin-specific protease USP7...
March 21, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28325732/whey-protein-effects-on-energy-balance-link-the-intestinal-mechanisms-of-energy-absorption-with-adiposity-and-hypothalamic-neuropeptide-gene-expression
#7
Kanishka N Nilaweera, Raul Cabrera-Rubio, John R Speakman, Paula M O' Connor, AnneMarie McAuliffe, Caitriona M Guinane, Elaine Lawton, Fiona Crispie, Mònica Aguilera, Maurice Stanley, Serena Boscaini, Susan Joyce, Silvia Melgar, John F Cryan, Paul D Cotter
We tested the hypothesis that dietary whey protein isolate (WPI) affects the intestinal mechanisms related to energy absorption and that the resulting energy deficit is compensated by changes in energy balance to support growth. C57BL/6 mice were provided a diet enriched with WPI with varied sucrose content, and the impact on energy balance related parameters were investigated. As part of a high sucrose diet, WPI reduced the hypothalamic expression of pro-opiomelanocortin gene expression and increased energy intake...
March 21, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28325213/mitochondrion-a-common-organelle-for-distinct-cell-deaths
#8
Z Wang, C Figueiredo-Pereira, C Oudot, H L A Vieira, C Brenner
Mitochondria are deeply involved in cell fate decisions via their multiple roles in metabolism, cell growth, and cell death. In healthy cells, these functions are highly regulated to provide sufficient energy for cell function, maintain cell homeostasis, and avoid undesirable cell death. This is achieved by an orchestrated cooperation of cellular and molecular mechanisms such as mitochondrial mass control (mitophagy vs biogenesis), oxidative phosphorylation, redox and calcium homeostasis, and the balance between pro- and antiapoptotic proteins...
2017: International Review of Cell and Molecular Biology
https://www.readbyqxmd.com/read/28324239/mtdna-maintenance-defects-syndromes-and-genes
#9
Carlo Viscomi, Massimo Zeviani
A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA (mtDNA) maintenance. These errors of nuclear-mitochondrial intergenomic signaling may lead to mtDNA depletion, accumulation of mtDNA multiple deletions, or both, in critical tissues. The genes involved encode proteins belonging to at least three pathways: mtDNA replication and maintenance, nucleotide supply and balance, and mitochondrial dynamics and quality control...
March 21, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28323281/chance-and-necessity-in-the-genome-evolution-of-endosymbiotic-bacteria-of-insects
#10
Beatriz Sabater-Muñoz, Christina Toft, David Alvarez-Ponce, Mario A Fares
An open question in evolutionary biology is how does the selection-drift balance determine the fates of biological interactions. We searched for signatures of selection and drift in genomes of five endosymbiotic bacterial groups known to evolve under strong genetic drift. Although most genes in endosymbiotic bacteria showed evidence of relaxed purifying selection, many genes in these bacteria exhibited stronger selective constraints than their orthologs in free-living bacterial relatives. Remarkably, most of these highly constrained genes had no role in the host-symbiont interactions but were involved in either buffering the deleterious consequences of drift or other host-unrelated functions, suggesting that they have either acquired new roles or their role became more central in endosymbiotic bacteria...
March 21, 2017: ISME Journal
https://www.readbyqxmd.com/read/28323073/dietary-electrolyte-balance-affects-growth-performance-amylase-activity-and-metabolic-response-in-the-meagre-argyrosomus-regius
#11
Leonardo J Magnoni, Emilio Salas-Leiton, Maria-João Peixoto, Luis Pereira, Francisca Silva-Brito, Filipa Fontinha, José F M Gonçalves, Jonathan M Wilson, Johan W Schrama, Rodrigo O A Ozório
Dietary ion content is known to alter the acid-base balance in freshwater fish. The current study investigated the metabolic impact of acid-base disturbances produced by differences in dietary electrolyte balance (DEB) in the meagre (Argyrosomus regius), an euryhaline species. Changes in fish performance, gastric chyme characteristics, pH and ion concentrations in the bloodstream, digestive enzyme activities and metabolic rates were analyzed in meagre fed ad libitum two experimental diets (DEB 200 or DEB 700mEq/kg) differing in the Na2CO3 content for 69days...
March 16, 2017: Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/28323003/pulsed-or-continuous-electromagnetic-field-induce-p53-p21-mediated-apoptotic-signaling-pathway-in-mouse-spermatogenic-cells-in-vitro-and-thus-may-affect-male-fertility
#12
Przemyslaw Solek, Lena Majchrowicz, Dominika Bloniarz, Ewelina Krotoszynska, Marek Koziorowski
The impact of electromagnetic field (EMF) on the human health and surrounding environment is a common topic investigated over the years. A significant increase in the electromagnetic field concentration arouses public concern about the long-term effects of EMF on living organisms associated with many aspects. In the present study, we investigated the effects of pulsed and continuous electromagnetic field (PEMF/CEMF) on mouse spermatogenic cell lines (GC-1 spg and GC-2 spd) in terms of cellular and biochemical features in vitro...
March 16, 2017: Toxicology
https://www.readbyqxmd.com/read/28322951/initiating-fibro-proliferation-through-interfacial-interactions-of-myoglobin-colloids-with-collagen-in-solution
#13
Madhumitha Dhanasekaran, Aruna Dhathathreyan
This work examines fibro-proliferation through interaction of myoglobin (Mb), a globular protein with collagen, an extracellular matrix fibrous protein. Designed colloids of Mb at pH 4.5 and 7.5 have been mixed with collagen solution at pH 7.5 and 4.5 in different concentrations altering their surface charges. For the Mb colloids, 100-200nm sizes have been measured from Transmission electron micrographs and zeta sizer. CD spectra shows a shift to beta sheet like structure for the protein in the colloids. Interaction at Mb/Collagen interface studied using Dilational rheology, Quartz crystal microbalance with dissipation and Differential Scanning calorimetry show that the perturbation is not only by the charge compensation arising from the difference in pH of the colloids and collagen, but also by the organized assembly of collagen at that particular pH...
March 16, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28322236/the-role-of-mesolimbic-reward-neurocircuitry-in-prevention-and-rescue-of-the-activity-based-anorexia-aba-phenotype-in-rats
#14
Claire J Foldi, Laura K Milton, Brian J Oldfield
Patients suffering anorexia nervosa (AN) become anhedonic; unable or unwilling to derive normal pleasures and avoid rewarding outcomes, most profoundly in food intake. The activity-based anorexia (ABA) model recapitulates many of the characteristics of the human condition, including anhedonia, and allows investigation of the underlying neurobiology of AN. The potential for increased neuronal activity in reward/hedonic circuits to prevent and rescue weight loss is investigated in this model. The mesolimbic pathway extending from the ventral tegmental area (VTA) to the nucleus accumbens (NAc) was activated using a dual viral strategy, involving retrograde transport of Cre (CAV2-Cre) to the VTA and coincident injection of DREADD receptors (AAV-hSyn-DIO-hM3D(Gq)-mCherry)...
March 21, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28322157/diabetes-related-neurological-implications-and-pharmacogenomics
#15
Rojas Carranza Camilo Andrés, Bustos Cruz Rosa Helena, Pino Pinzón Carmen Juliana, Ariza Marquez Yeimy Viviana, Gómez Bello Rosa Margarita, Cañadas Garre Marisa
Diabetes mellitus (DM) is the most commonly occurring cause of neuropathy around the world and is beginning to grow in countries where there is a risk of obesity. DM Type II, (T2DM) is a common age-related disease and is a major health concern, particularly in developed countries in Europe where the population is aging. T2DM is a chronic disease which is characterised by hyperglycemia, hyperinsulinemia and insulin resistance, together with the body's inability to use glucose as energy. Such metabolic disorder produces a chronic inflammatory state, as well as changes in lipid metabolism leading to hypertriglyceridemia, thereby producing chronic deterioration of the organs and premature morbidity and mortality...
March 17, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28321925/effects-of-6-months-aerobic-interval-training-on-skeletal-muscle-metabolism-in-middle-aged-metabolic-syndrome-patients
#16
A Guadalupe-Grau, V E Fernández-Elías, J F Ortega, F Dela, J W Helge, R Mora Rodríguez
AIM: Aerobic interval training (AIT) improves the health of metabolic syndrome patients (MetS) more than moderate intensity continuous training. However, AIT has not been shown to reverse all metabolic syndrome risk factors, possibly due to the limited duration of the training programs. PURPOSE: To assess the effects of 6 months of AIT on cardio-metabolic health and muscle metabolism in middle aged MetS. METHODS: Eleven MetS (54.5 ± 0.7 yrs old) underwent 6 month of 3 days a week supervised AIT program on a cycle-ergometer...
March 21, 2017: Scandinavian Journal of Medicine & Science in Sports
https://www.readbyqxmd.com/read/28320935/triad-of-human-cellular-proteins-irf2-fam111a-and-rfc3-restrict-replication-of-orthopoxvirus-spi-1-host-range-mutants
#17
Debasis Panda, Daniel J Fernandez, Madhu Lal, Eugen Buehler, Bernard Moss
Viruses and their hosts can reach balanced states of evolution ensuring mutual survival, which makes it difficult to appreciate the underlying dynamics. To uncover hidden interactions, virus mutants that have lost defense genes may be used. Deletion of the gene that encodes serine protease inhibitor 1 (SPI-1) of rabbitpox virus and vaccinia virus, two closely related orthopoxviruses, prevents their efficient replication in human cells, whereas certain other mammalian cells remain fully permissive. Our high-throughput genome-wide siRNA screen identified host factors that prevent reproduction and spread of the mutant viruses in human cells...
March 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28320624/improved-prediction-of-protein-protein-interactions-using-novel-negative-samples-features-and-an-ensemble-classifier
#18
Leyi Wei, Pengwei Xing, Jiancang Zeng, JinXiu Chen, Ran Su, Fei Guo
Computational methods are employed in bioinformatics to predict protein-protein interactions (PPIs). PPIs and protein-protein non-interactions (PPNIs) display different levels of development, and the number of PPIs is considerably greater than that of PPNIs. This significant difference in the number of PPIs and PPNIs increases the cost of constructing a balanced dataset. PPIs can be classified as either physical or genetic. However, ready-made PPNI databases were proven only to have no physical interactions and were not proven to have no genetic interactions...
March 4, 2017: Artificial Intelligence in Medicine
https://www.readbyqxmd.com/read/28320515/hmgcs2-promotes-autophagic-degradation-of-the-amyloid-%C3%AE-precursor-protein-through-ketone-body-mediated-mechanisms
#19
Li-Tian Hu, Bing-Lin Zhu, Yu-Jie Lai, Yan Long, Jing-Si Zha, Xiao-Tong Hu, John H Zhang, Guo-Jun Chen
HMGCS2 (mitochondrial 3-hydroxy-3-methylglutaryl-COA synthase 2) is a control enzyme in ketogenesis. The mitochondrial localization and interaction with APP (β-amyloid precursor protein) suggest that HMGCS2 may play a role in the pathophysiology of AD (Alzheimer's disease). Here we report that overexpression of HMGCS2 decreased levels of APP and related CTFs (carboxy-terminal fragments), which was largely prevented by an autophagic inhibitor chloroquine. In addition, HMGCS2 enhancement of autophagic marker LC3II was diminished by rapamycin, an inhibitor of mechanistic target of rapamycin...
March 17, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28320266/mechanisms-of-long-term-plasticity-of-hippocampal-gabaergic-synapses
#20
REVIEW
A V Rozov, F F Valiullina, A P Bolshakov
Long-term potentiation and depression of synaptic transmission have been considered as cellular mechanisms of memory in studies conducted in recent decades. These studies were predominantly focused on mechanisms underlying plasticity at excitatory synapses. Nevertheless, normal central nervous system functioning requires maintenance of a balance between inhibition and excitation, suggesting existence of similar modulation of glutamatergic and GABAergic synapses. Here we review the involvement of G-protein-coupled receptors in the generation of long-term changes in synaptic transmission of inhibitory synapses...
March 2017: Biochemistry. Biokhimii︠a︡
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