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LIPA gene

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https://www.readbyqxmd.com/read/29091308/in-vivo-and-in-vitro-effects-of-pth1-34-on-osteogenic-and-adipogenic-differentiation-of-human-bone-marrow-derived-mesenchymal-stem-cells-through-regulating-microrna-155
#1
Huan-Sheng Han, Fang Ju, Shuo Geng
This study aimed to investigate the effect of parathyroid hormone (PTH1-34) on osteogenic and adipogenic differentiation of hBMSCs by the regulation of miR-155. A total of 36 adult volunteers were selected in this study. Effects of PTH1-34 on the proliferation of hBMSCs and miR-155 expression were investigated using a MTT assay. The hBMSCs were divided into blank, PTH1-34, miR-155 mimic, miR-155 mimic negative control (NC), miR-155 inhibitor, miR-155 inhibitor NC, PTH1-34 + miR-155 mimic, PTH1-34 + miR-155 inhibitor and NPS R-568 groups...
November 1, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29051382/destruction-and-reformation-of-an-iron-sulfur-cluster-during-catalysis-by-lipoyl-synthase
#2
Erin L McCarthy, Squire J Booker
Lipoyl synthase (LipA) catalyzes the last step in the biosynthesis of the lipoyl cofactor, which is the attachment of two sulfhydryl groups to C6 and C8 of a pendant octanoyl chain. The appended sulfur atoms derive from an auxiliary [4Fe-4S] cluster on the protein that is degraded during turnover, limiting LipA to one turnover in vitro. We found that the Escherichia coli iron-sulfur (Fe-S) cluster carrier protein NfuA efficiently reconstitutes the auxiliary cluster during LipA catalysis in a step that is not rate-limiting...
October 20, 2017: Science
https://www.readbyqxmd.com/read/29045810/a-novel-next-generation-sequencing-assay-as-an-alternative-to-currently-available-methods-for-hepatitis-c-virus-genotyping
#3
G Dirani, E Paesini, E Mascetra, P Farabegoli, B Dalmo, B Bartolini, A R Garbuglia, M R Capobianchi, V Sambri
Chronic HCV infection is one of the leading causes of liver-related death and in many countries it is a primary reason for having a liver transplant. HCV genotype identification has long been used in the clinical practice, since different genotypes have different response rates and required different doses and durations of IFN/RBV treatment; moreover both the frequency and the pattern of resistance to different Direct-Acting Antivirals (DAAs) classes are subtype specific. Hence the necessity to make an accurate HCV subtyping becomes a fundamental tool to optimize current and future clinical management of HCV infected subjects...
January 2018: Journal of Virological Methods
https://www.readbyqxmd.com/read/28963005/production-enhancement-of-the-extracellular-lipase-lipa-in-bacillus-subtilis-effects-of-expression-system-and-sec-pathway-components
#4
Ran Jing Ma, Yan Hong Wang, Lu Liu, Lei Lei Bai, Rui Ban
Lipases are among the most versatile biocatalysts, and are used in a range of industrially relevant bioconversion reactions. However, the production of LipA in recombinant Bacillus subtilis is still limited, due to unresolved issues surrounding the regulation of the expression and secretion systems. In this study, the gene encoding LipA from B. subtilis 168 was expressed in BNA under the control of the P43 and the PAE promoter. The extracellular lipase activity of the resulting strains BNACL and BNAAL was 7...
September 27, 2017: Protein Expression and Purification
https://www.readbyqxmd.com/read/28958330/genetically-confirmed-familial-hypercholesterolemia-in-patients-with-acute-coronary-syndrome
#5
Almudena Amor-Salamanca, Sergio Castillo, Emiliano Gonzalez-Vioque, Fernando Dominguez, Lucía Quintana, Carla Lluís-Ganella, Juan Manuel Escudier, Javier Ortega, Enrique Lara-Pezzi, Luis Alonso-Pulpon, Pablo Garcia-Pavia
BACKGROUND: Genetic screening programs in unselected individuals with increased levels of low-density lipoprotein cholesterol (LDL-C) have shown modest results in identifying individuals with familial hypercholesterolemia (FH). OBJECTIVES: This study assessed the prevalence of genetically confirmed FH in patients with acute coronary syndrome (ACS) and compared the diagnostic performance of FH clinical criteria versus FH genetic testing. METHODS: Genetic study of 7 genes (LDLR, APOB, PCSK9, APOE, STAP1, LDLRAP1, and LIPA) associated with FH and 12 common alleles associated with polygenic hypercholesterolemia was performed in 103 patients with ACS, age ≤65 years, and LDL-C levels ≥160 mg/dl...
October 3, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28882870/crispr-cas9-mediated-gene-editing-in-human-ipsc-derived-macrophage-reveals-lysosomal-acid-lipase-function-in-human-macrophages-brief-report
#6
Hanrui Zhang, Jianting Shi, Melanie A Hachet, Chenyi Xue, Robert C Bauer, Hongfeng Jiang, Wenjun Li, Junichiro Tohyama, John Millar, Jeffrey Billheimer, Michael C Phillips, Babak Razani, Daniel J Rader, Muredach P Reilly
OBJECTIVE: To gain mechanistic insights into the role of LIPA (lipase A), the gene encoding LAL (lysosomal acid lipase) protein, in human macrophages. APPROACH AND RESULTS: We used CRISPR (clustered regularly interspaced short palindromic repeats)/Cas9 (CRISPR-associated protein 9) technology to knock out LIPA in human induced pluripotent stem cells and then differentiate to macrophage (human-induced pluripotent stem cells-derived macrophage [IPSDM]) to explore the human macrophage LIPA loss-of-function phenotypes...
November 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28881270/molecular-and-clinical-characterization-of-a-series-of-patients-with-childhood-onset-lysosomal-acid-lipase-deficiency-retrospective-investigations-follow-up-and-detection-of-two-novel-lipa-pathogenic-variants
#7
Livia Pisciotta, Giulia Tozzi, Lorena Travaglini, Roberta Taurisano, Tiziano Lucchi, Giuseppe Indolfi, Francesco Papadia, Maja Di Rocco, Lorenzo D'Antiga, Patricia Crock, Komal Vora, Scott Nightingale, Helen Michelakakis, Anastasia Garoufi, Lilia Lykopoulou, Stefano Bertolini, Sebastiano Calandra
BACKGROUND AND AIMS: Childhood/Adult-onset Lysosomal Acid Lipase Deficiency (LAL-D) is a recessive disorder due to loss of function variants of LAL, the enzyme which hydrolyses cholesteryl esters, derived from internalized apoB containing lipoproteins. The disease is characterized by multi-organ involvement including the liver, spleen, intestine and cardiovascular system. The aim of this study was the clinical and molecular characterization of 14 (13 unrelated) previously unreported patients with childhood-onset LAL-D...
October 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28871123/the-role-of-hfq-in-regulation-of-lipa-expression-in-pseudomonas-protegens-pf-5
#8
Wu Liu, Menggang Li, Jinyong Yan, Yunjun Yan
Pseudomonas lipase is a well-studied lipase. However, few studies have been conducted to examine the mechanisms underlying the regulation of the lipase expression. Hfq is a global regulatory protein that, among others, controls the expression of multiple genes, regulate bacterial peristalsis, and participates in the regulation of quorum-sensing (QS) system. In this study, the effects of Hfq on lipase expression were investigated by knocking out the hfq and rsmY genes or overexpressing of hfq and rsmY genes...
September 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28860124/quantitative-analysis-of-the-proteome-response-to-the-histone-deacetylase-inhibitor-hdaci-vorinostat-in-niemann-pick-type-c1-disease
#9
Kanagaraj Subramanian, Navin Rauniyar, Mathieu Lavalleé-Adam, John R Yates, William E Balch
Niemann-Pick type C (NPC) disease is an inherited, progressive neurodegenerative disorder principally caused by mutations in the NPC1 gene. NPC disease is characterized by the accumulation of unesterified cholesterol in the late endosomes (LE) and lysosomes (Ly) (LE/Ly). Vorinostat, a histone deacetylase inhibitor (HDACi), restores cholesterol homeostasis in fibroblasts derived from NPC patients; however, the exact mechanism by which Vorinostat restores cholesterol level is not known yet. In this study, we performed comparative proteomic profiling of the response of NPC1(I1061T) fibroblasts to Vorinostat...
November 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28782649/comparison-of-methods-available-for-identification-of-mycobacterium-chimaera
#10
E Lecorche, S Haenn, F Mougari, S Kumanski, N Veziris, H Benmansour, L Raskine, L Moulin, E Cambau
OBJECTIVES: Mycobacterium chimaera is a recently described nontuberculous mycobacterium belonging to the Mycobacterium avium complex (MAC). Because this species is implicated in a worldwide outbreak due to contaminated heater-cooler unit water tanks during open-heart surgery, it has become mandatory for clinical microbiology laboratories to be able to differentiate M. chimaera from the other MAC species, especially M. intracellulare. Such identification has so far been restricted to specialized laboratories because it required the analysis of several gene sequences...
August 4, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28782185/identification-of-hepatitis-c-virus-2k-1b-intergenotypic-recombinants-in-georgia
#11
Mamuka Zakalashvili, Jaba Zarkua, Michael Weizenegger, Jan Bartel, Monika Raabe, Lela Zangurashvili, Nino Kankia, Nino Jashiashvili, Maka Lomidze, Tengiz Telia, Vakhtang Kerashvili, Maia Zhamutashvili, Nikoloz Abramishvili, Charlotte Hedskog, Krishna Chodavarapu, Diana M Brainard, John G McHutchison, Hongmei Mo, Evguenia Svarovskaia, Robert G Gish, Irakli Rtskhiladze, David Metreveli
BACKGROUND AND AIMS: This study aimed to evaluate the prevalence of the hepatitis C virus intergenotype recombinant strain RF1_2k/1b in Georgia, confirm viral recombination by full genome sequencing, and determine a genetic relationship with previously described recombinant hepatitis C viruses. METHODS: We retrospectively analysed data from 1421 Georgian patients with chronic hepatitis C. Genotyping was performed with the INNO-LiPA VERSANT HCV Genotype 2.0 Assay...
August 7, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28766104/protein-engineering-and-homologous-expression-of-serratia-marcescens-lipase-for-efficient-synthesis-of-a-pharmaceutically-relevant-chiral-epoxyester
#12
Ke-Cai Chen, Ming-Min Zheng, Jiang Pan, Chun-Xiu Li, Jian-He Xu
The lipase isolated from Serratia marcescens (LipA) is a useful biocatalyst for kinetic resolution of a pharmaceutically relevant epoxyester, (±)-3-(4'-methoxyphenyl) glycidic acid methyl ester [(±)-MPGM], to afford optically pure (-)-MPGM, a key intermediate for the synthesis of diltiazem hydrochloride. Two mutants, LipAL315S and LipAS271F, were identified from the combinatorial saturation mutation library of 14 amino acid residues lining the substrate-binding pocket. LipAL315S, LipAS271F, and their combination LipAL315S/S271F showed 2...
October 2017: Applied Biochemistry and Biotechnology
https://www.readbyqxmd.com/read/28659158/neural-stem-cells-for-disease-modeling-of-wolman-disease-and-evaluation-of-therapeutics
#13
Francis Aguisanda, Charles D Yeh, Catherine Z Chen, Rong Li, Jeanette Beers, Jizhong Zou, Natasha Thorne, Wei Zheng
BACKGROUND: Wolman disease (WD) is a rare lysosomal storage disorder that is caused by mutations in the LIPA gene encoding lysosomal acid lipase (LAL). Deficiency in LAL function causes accumulation of cholesteryl esters and triglycerides in lysosomes. Fatality usually occurs within the first year of life. While an enzyme replacement therapy has recently become available, there is currently no small-molecule drug treatment for WD. RESULTS: We have generated induced pluripotent stem cells (iPSCs) from two WD patient dermal fibroblast lines and subsequently differentiated them into neural stem cells (NSCs)...
June 28, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28655332/conditional-knock-out-of-lipoic-acid-protein-ligase-1-reveals-redundancy-pathway-for-lipoic-acid-metabolism-in-plasmodium-berghei-malaria-parasite
#14
Min Wang, Qiong Wang, Xiang Gao, Zhong Su
BACKGROUND: Lipoic acid is a cofactor for α-keto acid dehydrogenase system that is involved in the central energy metabolism. In the apicomplexan parasite, Plasmodium, lipoic acid protein ligase 1 (LplA1) and LplA2 catalyse the ligation of acquired lipoic acid to the dehydrogenase complexes in the mitochondrion. The enzymes LipB and LipA mediate lipoic acid synthesis and ligation to the enzymes in the apicoplast. These enzymes in the lipoic acid metabolism machinery have been shown to play important roles in the biology of Plasmodium parasites, but the relationship between the enzymes is not fully elucidated...
June 27, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28642584/molecular-switching-system-using-glycosylphosphatidylinositol-to-select-cells-highly-expressing-recombinant-proteins
#15
Emmanuel Matabaro, Zeng'an He, Yi-Shi Liu, Hui-Jie Zhang, Xiao-Dong Gao, Morihisa Fujita
Although many pharmaceutical proteins are produced in mammalian cells, there remains a challenge to select cell lines that express recombinant proteins with high productivity. Since most biopharmaceutical proteins are secreted by cells into the medium, it is difficult to select cell lines that produce large amounts of the target protein. To address this issue, a new protein expression system using the glycosylphosphatidylinositol (GPI)-anchor was developed. PGAP2 is involved in processing GPI-anchored proteins (GPI-APs) during transport...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28615446/lysosome-mediated-degradation-of-a-distinct-pool-of-lipid-droplets-during-hepatic-stellate-cell-activation
#16
Maidina Tuohetahuntila, Martijn R Molenaar, Bart Spee, Jos F Brouwers, Richard Wubbolts, Martin Houweling, Cong Yan, Hong Du, Brian C VanderVen, Arie B Vaandrager, J Bernd Helms
Activation of hepatic stellate cells (HSCs) is a critical step in the development of liver fibrosis. During activation, HSCs lose their lipid droplets (LDs) containing triacylglycerols (TAGs), cholesteryl esters, and retinyl esters (REs). We previously provided evidence for the presence of two distinct LD pools, a preexisting and a dynamic LD pool. Here we investigate the mechanisms of neutral lipid metabolism in the preexisting LD pool. To investigate the involvement of lysosomal degradation of neutral lipids, we studied the effect of lalistat, a specific lysosomal acid lipase (LAL/Lipa) inhibitor on LD degradation in HSCs during activation in vitro The LAL inhibitor increased the levels of TAG, cholesteryl ester, and RE in both rat and mouse HSCs...
July 28, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28611758/genome-wide-analyses-reveal-genes-subject-to-positive-selection-in-pasteurella-multocida
#17
Peili Cao, Dongchun Guo, Jiasen Liu, Qian Jiang, Zhuofei Xu, Liandong Qu
Pasteurella multocida, a Gram-negative opportunistic pathogen, has led to a broad range of diseases in mammals and birds, including fowl cholera in poultry, pneumonia and atrophic rhinitis in swine and rabbit, hemorrhagic septicemia in cattle, and bite infections in humans. In order to better interpret the genetic diversity and adaptation evolution of this pathogen, seven genomes of P. multocida strains isolated from fowls, rabbit and pigs were determined by using high-throughput sequencing approach. Together with publicly available P...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28538091/wolman-disease-a-mimic-of-infant-leukemia
#18
Kaduveettil G Gopakumar, Priyakumari Thankamony, Sheela Nampoothiri, Deeksha Bali, Jubie Raj, Jayasudha A Vasudevan, Ramachandran K Nair
BACKGROUND: Infant leukemia most commonly present with pallor and hepatosplenomegaly. The possibility of other differential diagnosis also has to be kept in mind during evaluation, as identifying the precise etiology for this clinical presentation is crucial for management. OBSERVATION: An infant, was referred to us with suspected infant leukemia and was subsequently diagnosed to have lysosomal acid lipase deficiency/Wolman disease with a novel 5 bp deletion "c...
November 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28533767/characterization-of-mycobacterium-chelonae-like-strains-by-comparative-genomics
#19
Christiane L Nogueira, Luiz G P de Almeida, Maria C Menendez, Maria J Garcia, Luciano A Digiampietri, Erica Chimara, Margo Cnockaert, Juan C Palomino, Françoise Portaels, Anandi Martin, Peter Vandamme, Sylvia C Leão
Isolates of the Mycobacterium chelonae-M. abscessus complex are subdivided into four clusters (CHI to CHIV) in the INNO-LiPA® Mycobacterium spp DNA strip assay. A considerable phenotypic variability was observed among isolates of the CHII cluster. In this study, we examined the diversity of 26 CHII cluster isolates by phenotypic analysis, drug susceptibility testing, whole genome sequencing and single-gene analysis. Pairwise genome comparisons were performed using several approaches, including average nucleotide identity (ANI) and genome-to-genome distance (GGD) among others...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28509324/three-dimensional-neurosonography-a-novel-field-in-fetal-medicine
#20
Michał Lipa, Ritsuko Kimata Pooh, Mirosław Wielgoś
Neurosonography is a promising technique for prenatal diagnosis, combining features of ultrasound imaging with fetal neurology. The brain is a three-dimensional structure, therefore observing brain structure in the three basic planes (sagittal, coronal and axial) is mandatory. The anterior fontanelle and sagittal suture may serve as acoustic ultrasound windows in the transvaginal brain scan, allowing to obtain high-resolution neuroimages of the intracranial structures. Furthermore, three-dimensional (3D) ultrasound combined with the transvaginal brain approach provides detailed and sophisticated neuroimages...
2017: Ginekologia Polska
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