keyword
MENU ▼
Read by QxMD icon Read
search

Metabolic genetics

keyword
https://www.readbyqxmd.com/read/27933557/atypical-presentation-and-treatment-response-in-a-child-with-familial-hypercholesterolemia-having-a-novel-ldlr-mutation
#1
S Varma, A D McIntyre, R A Hegele
Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while individuals with HeFH begin to suffer from premature cardiovascular disease in fourth or fifth decade of life. Statin drugs have helped to improve the biochemical profile and life expectancy in HeFH, while they are only minimally effective in HoFH...
December 9, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27933404/genome-wide-high-content-sirna-screening-identifies-the-alzheimer-s-genetic-risk-factor-fermt2-as-a-major-modulator-of-app-metabolism
#2
Julien Chapuis, Amandine Flaig, Benjamin Grenier-Boley, Fanny Eysert, Virginie Pottiez, Gaspard Deloison, Alexandre Vandeputte, Anne-Marie Ayral, Tiago Mendes, Shruti Desai, Alison M Goate, John S K Kauwe, Florence Leroux, Adrien Herledan, Florie Demiautte, Charlotte Bauer, Fréderic Checler, Ronald C Petersen, Kaj Blennow, Henrik Zetterberg, Lennart Minthon, Vivianna M Van Deerlin, Virginia Man-Yee Lee, Leslie M Shaw, John Q Trojanowski, Marilyn Albert, Abhay Moghekar, Richard O'Brien, Elaine R Peskind, Nicolas Malmanche, Gerard D Schellenberg, Pierre Dourlen, Ok-Ryul Song, Carlos Cruchaga, Philippe Amouyel, Benoit Deprez, Priscille Brodin, Jean-Charles Lambert
Genome-wide association studies (GWASs) have identified 19 susceptibility loci for Alzheimer's disease (AD). However, understanding how these genes are involved in the pathophysiology of AD is one of the main challenges of the "post-GWAS" era. At least 123 genes are located within the 19 susceptibility loci; hence, a conventional approach (studying the genes one by one) would not be time- and cost-effective. We therefore developed a genome-wide, high-content siRNA screening approach and used it to assess the functional impact of gene under-expression on APP metabolism...
December 8, 2016: Acta Neuropathologica
https://www.readbyqxmd.com/read/27933319/a-metabolic-widget-adjusts-the-phosphoenolpyruvate-dependent-fructose-influx-in-pseudomonas-putida
#3
Max Chavarría, Ángel Goñi-Moreno, Víctor de Lorenzo, Pablo I Nikel
Fructose uptake in the soil bacterium Pseudomonas putida occurs through a canonical phosphoenolpyruvate (PEP)-dependent sugar transport system (PTS(Fru)). The logic of the genetic circuit that rules its functioning is puzzling: the transcription of the fruBKA operon, encoding all the components of PTS(Fru), can escape the repression exerted by the catabolite repressor/activator protein Cra solely in the presence of intracellular fructose-1-P, an agonist formed only when fructose has been already transported...
November 2016: MSystems
https://www.readbyqxmd.com/read/27933100/genome-and-methylome-of-the-oleaginous-diatom-cyclotella-cryptica-reveal-genetic-flexibility-toward-a-high-lipid-phenotype
#4
Jesse C Traller, Shawn J Cokus, David A Lopez, Olga Gaidarenko, Sarah R Smith, John P McCrow, Sean D Gallaher, Sheila Podell, Michael Thompson, Orna Cook, Marco Morselli, Artur Jaroszewicz, Eric E Allen, Andrew E Allen, Sabeeha S Merchant, Matteo Pellegrini, Mark Hildebrand
BACKGROUND: Improvement in the performance of eukaryotic microalgae for biofuel and bioproduct production is largely dependent on characterization of metabolic mechanisms within the cell. The marine diatom Cyclotella cryptica, which was originally identified in the Aquatic Species Program, is a promising strain of microalgae for large-scale production of biofuel and bioproducts, such as omega-3 fatty acids. RESULTS: We sequenced the nuclear genome and methylome of this oleaginous diatom to identify the genetic traits that enable substantial accumulation of triacylglycerol...
2016: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/27933035/life-without-dutpase
#5
Csaba Kerepesi, Judit E Szabó, Veronika Papp-Kádár, Orsolya Dobay, Dóra Szabó, Vince Grolmusz, Beáta G Vértessy
Fine-tuned regulation of the cellular nucleotide pools is indispensable for faithful replication of Deoxyribonucleic Acid (DNA). The genetic information is also safeguarded by DNA damage recognition and repair processes. Uracil is one of the most frequently occurring erroneous bases in DNA; it can arise from cytosine deamination or thymine-replacing incorporation. Two enzyme activities are primarily involved in keeping DNA uracil-free: dUTPase (dUTP pyrophosphatase) activity that prevent thymine-replacing incorporation and uracil-DNA glycosylase activity that excise uracil from DNA and initiate uracil-excision repair...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27932582/translational-safety-genetics-leveraging-genetic-variation-for-enhanced-safety-assessment
#6
Priyasma Bhoumik, Alberto Del Rio-Espinola, Florian Hahne, Jonathan Moggs, Olivier Grenet
The emerging field of translational safety genetics is providing new opportunities to enhance drug discovery and development. Genetic variation in therapeutic drug targets, off-target interactors and relevant drug metabolism/disposition pathways can contribute to diverse drug pharmacologic and toxicologic responses between different animal species, strains and geographic origins. Recent advances in the sequencing of rodent, canine, nonhuman primate, and minipig genomes have dramatically improved the ability to select the most appropriate animal species for preclinical drug toxicity studies based on genotypic characterization of drug targets/pathways and drug metabolism and/or disposition, thus avoiding inconclusive or misleading animal studies, consistent with the principles of the 3Rs (replacement, reduction and refinement)...
December 8, 2016: Toxicologic Pathology
https://www.readbyqxmd.com/read/27932499/genetic-variation-in-one-carbon-metabolism-and-changes-in-metabolic-parameters-in-first-episode-schizophrenia-patients
#7
Błażej Misiak, Łukasz Łaczmański, Natalia Kinga Słoka, Elżbieta Szmida, Ryszard Ślęzak, Patryk Piotrowski, Andrzej Kiejna, Dorota Frydecka
BACKGROUND: In this study, we aimed to investigate the effects of polymorphisms in genes encoding 1-carbon metabolism enzymes on differential development of metabolic parameters during 12 weeks of treatment with second-generation antipsychotics in first-episode schizophrenia patients. METHODS: The following polymorphisms in 1-carbon metabolism genes were genotyped: MTHFR (C677T and A1298C), MTHFD1 (G1958A), MTRR (A66G), and BHMT (G742A). A broad panel of metabolic parameters including body mass index, waist circumference, total cholesterol low and high density lipoproteins, triglycerides, homocysteine, folate, and vitamin B12 was determined...
December 8, 2016: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/27932482/patz1-down-regulates-fads1-by-binding-to-rs174557-and-is-opposed-by-sp1-srebp1c
#8
Gang Pan, Adam Ameur, Stefan Enroth, Madhusudhan Bysani, Helena Nord, Marco Cavalli, Magnus Essand, Ulf Gyllensten, Claes Wadelius
The FADS1 and FADS2 genes in the FADS cluster encode the rate-limiting enzymes in the synthesis of long-chain polyunsaturated fatty acids (LC-PUFAs). Genetic variation in this region has been associated with a large number of diseases and traits many of them correlated to differences in metabolism of PUFAs. However, the causative variants leading to these associations have not been identified. Here we find that the multiallelic rs174557 located in an AluYe5 element in intron 1 of FADS1 is functional and lies within a PATZ1 binding site...
December 8, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27932304/vitamin-d-and-type-2-diabetes
#9
REVIEW
Paul Lips, Marelise Eekhoff, Natasja Vzn Schoor, Mirjam Oosterwerff, Renate de Jongh, Yvonne Krul-Poel, Suat Simsek
Vitamin D deficiency is associated with a decreased insulin release, insulin resistance and type 2 diabetes in experimental and epidemiological studies. Animal studies show that 1α,25-dihydroxyvitamin D3 (1,25(OH)2D3) stimulates the pancreatic β-cell to secrete insulin. The relationship between vitamin D deficiency and insulin resistance could develop through inflammation, as vitamin D deficiency is associated with increased inflammatory markers. In addition, genetic polymorphisms of vitamin D -related genes may predispose to impaired glycemic control and type 2 diabetes...
December 5, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27932276/the-why-and-how-of-amino-acid-analytics-in-cancer-diagnostics-and-therapy
#10
REVIEW
Friederike Manig, Konstantin Kuhne, Cläre von Neubeck, Uwe Schwarzenbolz, Zhanru Yu, Benedikt M Kessler, Jens Pietzsch, Leoni A Kunz-Schughart
Pathological alterations in cell functions are frequently accompanied by metabolic reprogramming including modifications in amino acid metabolism. Amino acid detection is thus integral to the diagnosis of many hereditary metabolic diseases. The development of malignant diseases as metabolic disorders comes along with a complex dysregulation of genetic and epigenetic factors affecting metabolic enzymes. Cancer cells might transiently or permanently become auxotrophic for non-essential or semi-essential amino acids such as asparagine or arginine...
December 5, 2016: Journal of Biotechnology
https://www.readbyqxmd.com/read/27931747/genetic-diversity-and-population-structure-of-food-borne-staphylococcus-carnosus-strains
#11
Anne Bückle Née Müller, Markus Kranz, Herbert Schmidt, Agnes Weiss
The species Staphylococcus carnosus is a non-pathogenic representative of the coagulase negative staphylococci. Specific strains are applied as meat starter cultures. The species consists of two subspecies, S. carnosus ssp. carnosus and S. carnosus ssp. utilis. In order to place S. carnosus strains, characterized in former studies, in a genetic background that allows a typing of candidates for starter cultures, a Multilocus Sequence Typing (MLST) scheme was developed. Internal fragments of the genes tpiA, xprT, dat, gmk, glpK, narG, cstA, encoding triosephosphate isomerase, xanthine phosphoribosyltransferase, d-amino acid aminotransferase, guanylate kinase, glycerol kinase, the α-chain of the respiratory nitrate reductase, and a carbon starvation protein where chosen...
November 30, 2016: Systematic and Applied Microbiology
https://www.readbyqxmd.com/read/27931035/diabetic-phenotype-in-the-small-intestine-of-zucker-diabetic-fatty-rats
#12
Henning Hvid, Stina Rikke Jensen, Brent M Witgen, Christian Fledelius, Jesper Damgaard, Charles Pyke, Thomas Bovbjerg Rasmussen
BACKGROUND/AIMS: In contrast to streptozotocin (STZ)-induced rodent models of diabetes, there are no thorough characterizations of the intestinal phenotype and the underlying changes in the global gene-expression of genetic models of diabetes, such as the Zucker diabetic fatty (ZDF) rat. The aim of the present study was to characterize the intestine in the ZDF rat. METHODS: The intestine of ZDF rats and lean controls was examined macroscopically and histologically, and ribonucleic acid sequencing (RNAseq) was performed in samples of jejunal mucosa...
December 9, 2016: Digestion
https://www.readbyqxmd.com/read/27931018/primary-carnitine-deficiency-and-newborn-screening-for-disorders-of-the-carnitine-cycle
#13
Nicola Longo
Carnitine is needed for transfer of long-chain fatty acids across the inner mitochondrial membrane for subsequent β-oxidation. Carnitine can be synthesized by the body and is also obtained in the diet through consumption of meat and dairy products. Defects in carnitine transport such as those caused by defective activity of the OCTN2 transporter encoded by the SLC22A5 gene result in primary carnitine deficiency, and newborn screening programmes can identify patients at risk for this condition before irreversible damage...
December 9, 2016: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/27930825/modulation-of-meiotic-homologous-recombination-by-dna-helicases
#14
Alexander Lorenz
DNA helicases are ATP-driven motor proteins which translocate along DNA capable of dismantling DNA-DNA interactions and/or removing proteins bound to DNA. These biochemical capabilities make DNA helicases main regulators of crucial DNA metabolic processes, including DNA replication, DNA repair, and genetic recombination. This budding topic will focus on reviewing the function of DNA helicases important for homologous recombination during meiosis, and discuss recent advances in how these modulators of meiotic recombination are themselves regulated...
December 8, 2016: Yeast
https://www.readbyqxmd.com/read/27930319/co-synthesized-from-the-central-one-carbon-pool-as-source-for-the-iron-carbonyl-in-o2-tolerant-nife-hydrogenase
#15
Ingmar Bürstel, Elisabeth Siebert, Stefan Frielingsdorf, Ingo Zebger, Bärbel Friedrich, Oliver Lenz
Hydrogenases are nature's key catalysts involved in both microbial consumption and production of molecular hydrogen. H2 exhibits a strongly bonded, almost inert electron pair and requires transition metals for activation. Consequently, all hydrogenases are metalloenzymes that contain at least one iron atom in the catalytic center. For appropriate interaction with H2, the iron moiety demands for a sophisticated coordination environment that cannot be provided just by standard amino acids. This dilemma has been overcome by the introduction of unprecedented chemistry-that is, by ligating the iron with carbon monoxide (CO) and cyanide (or equivalent) groups...
December 5, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27930300/an-nad-dependent-transcriptional-program-governs-self-renewal-and-radiation-resistance-in-glioblastoma
#16
Amit D Gujar, Son Le, Diane D Mao, David Y A Dadey, Alice Turski, Yo Sasaki, Diane Aum, Jingqin Luo, Sonika Dahiya, Liya Yuan, Keith M Rich, Jeffrey Milbrandt, Dennis E Hallahan, Hiroko Yano, David D Tran, Albert H Kim
Accumulating evidence suggests cancer cells exhibit a dependency on metabolic pathways regulated by nicotinamide adenine dinucleotide (NAD(+)). Nevertheless, how the regulation of this metabolic cofactor interfaces with signal transduction networks remains poorly understood in glioblastoma. Here, we report nicotinamide phosphoribosyltransferase (NAMPT), the rate-limiting step in NAD(+) synthesis, is highly expressed in glioblastoma tumors and patient-derived glioblastoma stem-like cells (GSCs). High NAMPT expression in tumors correlates with decreased patient survival...
December 7, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27929430/biological-activities-of-extracts-from-loquat-eriobotrya-japonica-lindl-a-review
#17
REVIEW
Yilong Liu, Wenna Zhang, Changjie Xu, Xian Li
Loquat (Eriobotrya japonica Lindl.) is a subtropical fruit tree with high medicinal value native to China. Different organs of loquat have been used historically as folk medicines and this has been recorded in Chinese history for thousands of years. Research shows that loquat extracts contain many antioxidants, and different extracts exhibit bioactivity capable of counteracting inflammation, diabetes, cancer, bacterial infection, aging, pain, allergy and other health issues. Bioactive compounds such as phenolics and terpenoids have been isolated and characterized to provide a better understanding of the chemical mechanisms underlying the biological activities of loquat extracts...
December 6, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27929393/xylobiose-an-alternative-sweetener-ameliorates-diabetes-related-metabolic-changes-by-regulating-hepatic-lipogenesis-and-mir-122a-33a-in-db-db-mice
#18
Eunjin Lim, Ji Ye Lim, Eunju Kim, Yoo-Sun Kim, Jae-Ho Shin, Pu Reum Seok, Sangwon Jung, Sang-Ho Yoo, Yuri Kim
Type 2 diabetes is a major public health concern worldwide. Xylobiose (XB) consists of two molecules of d-xylose and is a major disaccharide in xylooligosaccharides that are used as prebiotics. We hypothesized that XB could regulate diabetes-related metabolic and genetic changes via microRNA expression in db/db mice. For six weeks, C57BL/KsJ-db/db mice received 5% XB as part of the total sucrose content of their diet. XB supplementation improved glucose tolerance with reduced levels of OGTT AUC, fasting blood glucose, HbA1c, insulin, and HOMA-IR...
December 5, 2016: Nutrients
https://www.readbyqxmd.com/read/27929046/bifidobacterium-breve-ucc2003-metabolises-the-human-milk-oligosaccharides-lacto-n-tetraose-and-lacto-n-neo-tetraose-through-overlapping-yet-distinct-pathways
#19
Kieran James, Mary O'Connell Motherway, Francesca Bottacini, Douwe van Sinderen
In this study, we demonstrate that the prototype B. breve strain UCC2003 possesses specific metabolic pathways for the utilisation of lacto-N-tetraose (LNT) and lacto-N-neotetraose (LNnT), which represent the central moieties of Type I and Type II human milk oligosaccharides (HMOs), respectively. Using a combination of experimental approaches, the enzymatic machinery involved in the metabolism of LNT and LNnT was identified and characterised. Homologs of the key genetic loci involved in the utilisation of these HMO substrates were identified in B...
December 8, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27928894/the-renaissance-of-life-near-the-boiling-point-at-last-genetics-and-metabolic-engineering
#20
Michael W W Adams, Robert M Kelly
We discuss here the prospects for biotechnology of extreme thermophilic microorganisms.
December 8, 2016: Microbial Biotechnology
keyword
keyword
25792
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"