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https://www.readbyqxmd.com/read/28637240/tfeb-activation-restores-migration-ability-to-tsc1-deficient-adult-neural-stem-progenitor-cells
#1
Alessandro Magini, Alice Polchi, Danila Di Meo, Giuseppina Mariucci, Krizia Sagini, Federico De Marco, Tommaso Cassano, Stefano Giovagnoli, Diego Dolcetta, Carla Emiliani
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in either of two genes, TSC1 or TSC2, resulting in the constitutive activation of the mammalian target of rapamycin complex 1 (mTORC1). mTOR inhibitors are now considered the treatment of choice for TSC disease. A major pathological feature of TSC is the development of subependymal giant cell astrocytomas (SEGAs) in the brain. Nowadays, it is thought that SEGAs could be a consequence of aberrant aggregation and migration of neural stem/progenitor cells (NSPCs)...
June 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28636814/arsenic-compromises-both-p97-and-proteasome-functions
#2
Joseph Tillotson, Christopher J Zerio, Bryan Harder, Andrew Ambrose, Kevin S Jung, MinJin Kang, Donna D Zhang, Eli Chapman
Exposure to arsenic is a worldwide problem that affects more than 200 million people. The underlying mechanisms of arsenic toxicity have been difficult to ascertain due to arsenic's pleotropic effects. A number of recent investigations have shown arsenic can compromise protein quality control through the ubiquitin proteasome system (UPS) or the endoplasmic reticulum associated protein degradation (ERAD) pathway. In this report, a link between arsenic and protein quality control is reported. Biochemical and cellular data demonstrate a misregulation of the ATPase cycle of the ATPase associated with various cellular activities (AAA+) chaperone, p97...
June 21, 2017: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/28634238/electron-transport-chain-is-biochemically-linked-to-pilus-assembly-required-for-polymicrobial-interactions-and-biofilm-formation-in-the-gram-positive-actinobacterium-actinomyces-oris
#3
Belkys C Sanchez, Chungyu Chang, Chenggang Wu, Bryan Tran, Hung Ton-That
The Gram-positive actinobacteria Actinomyces spp. are key colonizers in the development of oral biofilms due to the inherent ability of Actinomyces to adhere to receptor polysaccharides on the surface of oral streptococci and host cells. This receptor-dependent bacterial interaction, or coaggregation, requires a unique sortase-catalyzed pilus consisting of the pilus shaft FimA and the coaggregation factor CafA forming the pilus tip. While the essential role of the sortase machine SrtC2 in pilus assembly, biofilm formation, and coaggregation has been established, little is known about trans-acting factors contributing to these processes...
June 20, 2017: MBio
https://www.readbyqxmd.com/read/28633142/multifactorial-analysis-of-a-biomarker-pool-for-alzheimer-disease-risk-in-a-north-indian-population
#4
Puneet Talwar, Sandeep Grover, Juhi Sinha, Puneet Chandna, Rachna Agarwal, Suman Kushwaha, Ritushree Kukreti
BACKGROUND: Alzheimer disease (AD) is a progressive neurodegenerative disease with a complex multifactorial etiology. Here, we aim to identify a biomarker pool comprised of genetic variants and blood biomarkers as predictor of AD risk. METHODS: We performed a case-control study involving 108 cases and 159 non-demented healthy controls to examine the association of multiple biomarkers with AD risk. RESULTS: The APOE genotyping revealed that ε4 allele frequency was significantly high (p value = 0...
June 21, 2017: Dementia and Geriatric Cognitive Disorders
https://www.readbyqxmd.com/read/28633087/in-field-study-on-traditional-italian-tomato-landraces-the-constitutive-activation-of-the-ros-scavenging-machinery-reduces-effects-of-drought-stress
#5
Simone Landi, Alessia De Lillo, Roberta Nurcato, Stefania Grillo, Sergio Esposito
The involvement and the efficiency of the antioxidants scavenging system upon drought were examined by comparing traditional tomato landraces with respect to an industrial commercial genotype (Red Setter); for the first time, comprehensive analyses of physiological, biochemical and molecular parameters were investigated directly under real field conditions, in a typical agricultural environment of Southern Italy. The characterization of the responses upon drought evidenced peculiar changes in stomatal conductance, ascorbate peroxidase and catalase activities and expression in drought tolerant tomato landraces, with respect to the industrial genotype...
June 13, 2017: Plant Physiology and Biochemistry: PPB
https://www.readbyqxmd.com/read/28632991/uncovering-the-repertoire-of-fungal-secondary-metabolites-from-fleming-s-lab-to-the-international-space-station
#6
Tomasz Boruta
Fungi produce a variety of secondary metabolites (SMs), low-molecular weight compounds associated with many potentially useful biological activities. The examples of biotechnologically relevant fungal metabolites include penicillin, a beta-lactam antibiotic, and lovastatin, a cholesterol-lowering drug. The discovery of pharmaceutical lead compounds within the microbial metabolic pools relies on the selection and biochemical characterization of promising strains. Not all SMs are produced under standard cultivation conditions, hence the uncovering of chemical potential of investigated strains often requires the use of induction strategies to awake the associated biosynthetic genes...
June 20, 2017: Bioengineered
https://www.readbyqxmd.com/read/28630658/evidence-of-mitochondrial-dysfunction-in-autism-biochemical-links-genetic-based-associations-and-non-energy-related-mechanisms
#7
REVIEW
Keren K Griffiths, Richard J Levy
Autism spectrum disorder (ASD), the fastest growing developmental disability in the United States, represents a group of neurodevelopmental disorders characterized by impaired social interaction and communication as well as restricted and repetitive behavior. The underlying cause of autism is unknown and therapy is currently limited to targeting behavioral abnormalities. Emerging studies suggest a link between mitochondrial dysfunction and ASD. Here, we review the evidence demonstrating this potential connection...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28628229/troxerutin-with-copper-generates-oxidative-stress-in-cancer-cells-its-possible-chemotherapeutic-mechanism-against-hepatocellular-carcinoma
#8
A Subastri, A Suyavaran, Preedia Babu E, Nithyananthan S, R Bharathidasan, C Thirunavukkarasu
Troxerutin (TXER) a rutin derivative is known for its anticancer effect against hepatocellular carcinoma (HCC). As part of large study, recently we have shown TXER interact with genetic material and its anti-mutagenic property. In the present study we have explored its possible mode of action in HCC. Since TXER alone did not show significant anticancer effect on Huh-7 cells, in vitro biochemical assays were performed for determining anticancer efficacy of TXER + metal complex using transition metals such as Cu, Zn & Fe...
June 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28627779/new-horizon-for-breast-cancer-biomarker-discoveries-what-might-the-liquid-biopsy-of-nipple-aspirate-fluid-hold
#9
Ferdinando Mannello
The existence of cellular, molecular and biochemical heterogeneity of human breast cancers reveals the intricacy of biomarkers complexity, stimulating studies on new approaches (like "liquid biopsies") for the improvements in precision medicine. Breast cancer is recognized as a leading cause of morbidity and mortality worldwide with tumors significantly diverse and containing many types of cells showing different genetic and epigenetic profiles. In this field, the technology of Liquid Biopsy (applied to a fluid produced by breast gland, named nipple aspirate fluids, NAF) highlights the power of combining basic and clinical research...
June 19, 2017: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/28627447/pain-with-traumatic-brain-injury-and-psychological-disorders
#10
REVIEW
Samar Khoury, Rodrigo Benavides
Traumatic brain injury (TBI) is the cause for long-term disability in more than 3 million patients in the US alone, with chronic pain being the most frequently reported complain. To date, predisposing mechanisms for chronic pain in TBI patients are largely unknown. Psychological disorders, including post-traumatic stress disorder, depression and anxiety following TBI are commonly reported comorbidities to post-traumatic pain. Long term consequences can be debilitating and affect quality of life even when the injury is mild...
June 13, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28627441/clinical-and-genetic-characteristics-of-17-chinese-patients-with-glycogen-storage-disease-type-ixa
#11
Jiangwei Zhang, Yuheng Yuan, Mingsheng Ma, Yan Liu, Weimin Zhang, Fengxia Yao, Zhengqing Qiu
Glycogen storage disease (GSD) type IXa is caused by PHKA2 mutation, which accounts for about 75% of all the GSD type IX cases. Here we first summarized the clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having GSD type IXa. Clinical symptoms of our patients included hepatomegaly, growth retardation, and liver dysfunction. The clinical and biochemical manifestations improved and even disappeared with age. We detected 14 mutations in 17 patients, including 8 novel mutations; exons 2 and 4 were hot spots in this research...
June 13, 2017: Gene
https://www.readbyqxmd.com/read/28626457/characterization-of-novel-integrons-in1085-and-in1086-and-the-surrounding-genes-in-plasmids-from-enterobacteriaceae-and-the-role-for-attcaada16-structural-features-during-atti1-%C3%A3-attc-integration
#12
Dongguo Wang, Wei Hou, Jiayu Chen, Linjun Yang, Zhihui Liu, Zhe Yin, Jiao Feng, Dongsheng Zhou
Novel class 1 integrons In1085 and In1086, containing the class D β-lactamase -encoding gene blaOXA, were identified in clinical enterobacterial strains. In this study, we aimed to characterize the genetic contexts of In1085 and In1086, with the goal of identifying putative mechanisms of integron mobilization. Four plasmids, approximately 5.3, 5.3, 5.7, and 6.6 kb, from 71 clinical Enterobacteriaceae strains were found to contain class 1 integrons (In37, In62, In1085, and In1086, respectively). Two of these plasmids, pEco336 and pNsa292, containing In1085 and In1086, respectively, were further characterized by antibiotic susceptibility testing, conjugation experiments, PCR, sequencing, and gene mapping...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28625765/flavin-dependent-epitranscriptomic-world
#13
REVIEW
Murielle Lombard, Djemel Hamdane
RNAs molecules fulfill key roles in the expression and regulation of the genetic information stored within the DNA chromosomes. In addition to the four canonical bases, U, C, A and G, RNAs harbor various chemically modified derivatives which are generated post-transcriptionally by specific enzymes acting directly at the polymer level. More than one hundred naturally occurring modified nucleosides have been identified to date, the largest number of which is found in tRNAs and rRNA. This remarkable biochemical process produces widely diversified RNAs further expanding the functional repertoires of these nucleic acids...
June 15, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28625364/semi-quantitative-models-for-identifying-potent-and-selective-transthyretin-amyloidogenesis-inhibitors
#14
Stephen Connelly, David E Mortenson, Sungwook Choi, Ian A Wilson, Evan T Powers, Jeffery W Kelly, Steven M Johnson
Rate-limiting dissociation of the tetrameric protein transthyretin (TTR), followed by monomer misfolding and misassembly, appears to cause degenerative diseases in humans known as the transthyretin amyloidoses, based on human genetic, biochemical and pharmacologic evidence. Small molecules that bind to the generally unoccupied thyroxine binding pockets in the native TTR tetramer kinetically stabilize the tetramer, slowing subunit dissociation proportional to the extent that the molecules stabilize the native state over the dissociative transition state-thereby inhibiting amyloidogenesis...
May 26, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28624879/lc-ms-ms-proteomic-analysis-of-starved-bacillus-subtilis-cells-overexpressing-ribonucleotide-reductase-nrdef-implications-in-stress-associated-mutagenesis
#15
Karla Viridiana Castro-Cerritos, Adolfo Lopez-Torres, Armando Obregón-Herrera, Katarzyna Wrobel, Kazimierz Wrobel, Mario Pedraza-Reyes
The non-appropriate conditions faced by nutritionally stressed bacteria propitiate error-prone repair events underlying stationary-phase- or stress-associated mutagenesis (SPM). The genetic and molecular mechanisms involved in SPM have been deeply studied but the biochemical aspects of this process have so far been less explored. Previous evidence showed that under conditions of nutritional stress, non-dividing cells of strain B. subtilis YB955 overexpressing ribonucleotide reductase (RNR) exhibited a strong propensity to generate true reversions in the hisC952 (amber), metB5 (ochre) and leuC425 (missense) mutant alleles...
June 17, 2017: Current Genetics
https://www.readbyqxmd.com/read/28624774/sex-and-genetic-background-influence-superoxide-dismutase-csod-related-phenotypic-variation-in-drosophila-melanogaster
#16
Courtney E Lessel, Tony L Parkes, Joel Dickinson, Thomas J S Merritt
Mutations often have drastically different effects in different genetic backgrounds; understanding a gene's biological function then requires an understanding of its interaction with genetic diversity. The antioxidant enzyme cytosolic superoxide dismutase, cSOD, catalyzes the dismutation of the superoxide radical, a molecule that can induce oxidative stress if its concentration exceeds cellular control. Accordingly, Drosophila melanogaster lacking functional cSOD exhibit a suite of phenotypes including decreased longevity, hypersensitivity to oxidative stress, impaired locomotion, and reduced NADP(H) enzyme activity in males...
June 17, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28624217/efficacy-of-postnatal-in%C3%A2-vivo-nonsense-suppression-therapy-in-a-pax6-mouse-model-of-aniridia
#17
Xia Wang, Kevin Gregory-Evans, Kishor M Wasan, Olena Sivak, Xianghong Shan, Cheryl Y Gregory-Evans
Nonsense mutations leading to premature stop codons are common occurring in approximately 12% of all human genetic diseases. Thus, pharmacological nonsense mutation suppression strategies would be beneficial to a large number of patients if the drugs could be targeted to the affected tissues at the appropriate time. Here, we used nonsense suppression to manipulate Pax6 dosage at different developmental times in the eye of the small eye (Pax6(Sey/+); G194X) mouse model of aniridia. Efficacy was assessed by functional assays for visual capacity, including electroretinography and optokinetic tracking (OKT), in addition to histological and biochemical studies...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28623919/effects-of-karela-bitter-melon-momordica-charantia-on-genes-of-lipids-and-carbohydrates-metabolism-in-experimental-hypercholesterolemia-biochemical-molecular-and-histopathological-study
#18
Dalia Yossri Saad, Mohamed Mohamed Soliman, Ahmed A Baiomy, Magdy Hassan Yassin, Hanan Basiouni El-Sawy
BACKGROUND: Hypercholesterolemia is a serious diseases associated with type-2 diabetes, atherosclerosis, cardiovascular disorders and liver diseases. Humans seek for safe herbal medication such as karela (Momordica charantia/bitter melon) to treat such disorders to avoid side effect of pharmacotherapies widely used. METHODS: Forty male Wistar rats were divided into four equal groups; control group with free access to food and water, cholesterol administered group (40 mg/kg BW orally); karela administered group (5 g /kg BW orally) and mixture of cholesterol and karela...
June 17, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28623567/molecular-identification-and-comparative-evaluation-of-tropical-marine-microalgae-for-biodiesel-production
#19
Sanyo Sabu, I S Bright Singh, Valsamma Joseph
Marine microalgae have emerged as important feedstock for liquid biofuel production. The identification of lipid-rich native microalgal species with high growth rate and optimal fatty acid profile and biodiesel properties is the most challenging step in microalgae-based biodiesel production. In this study, attempts have been made to bio-prospect the biodiesel production potential of marine and brackish water microalgal isolates from the west coast of India. A total of 14 microalgal species were isolated, identified using specific molecular markers and based on the lipid content; seven species with total lipid content above 20% of dry cell weight were selected for assessing biodiesel production potential in terms of lipid and biomass productivities, nile red fluorescence, fatty acid profile and biodiesel properties...
June 16, 2017: Marine Biotechnology
https://www.readbyqxmd.com/read/28622951/population-approach-to-efavirenz-therapy
#20
Hélder Duarte, João Paulo Cruz, Natália Aniceto, Ana Clara Ribeiro, Ana Fernandes, Paulo Paixão, Francisco Antunes, José Morais
Efavirenz (EFV) is a non-nucleoside reverse transcriptase inhibitor commonly used as first line therapy in the treatment of human immunodeficiency virus, with a narrow therapeutic range and a high between-subject variability which can lead to central nervous system toxicity or therapeutic failure. To characterize the sources of variability and better predict EFV steady state plasma concentrations, a population pharmacokinetic model was developed form 96 HIV positive individuals, using a nonlinear mixed effect method with Monolix® software...
June 13, 2017: Journal of Pharmaceutical Sciences
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