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LIPA gene

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https://www.readbyqxmd.com/read/28322747/quantitation-of-the-rates-of-hepatic-and-intestinal-cholesterol-synthesis-in-lysosomal-acid-lipase-deficient-mice-before-and-during-treatment-with-ezetimibe
#1
Jen-Chieh Chuang, Adam M Lopez, Stephen D Turley
Esterified cholesterol (EC) and triglycerides, contained within lipoproteins taken up by cells, are hydrolysed by lysosomal acid lipase (LAL) in the late endosomal/lysosomal (E/L) compartment. The resulting unesterified cholesterol (UC) is transported via Niemann-Pick type C2 and C1 into the cytosolic compartment where it enters a putative pool of metabolically active cholesterol that is utilized in accordance with cellular needs. Loss-of-function mutations in LIPA, the gene encoding LAL, result in dramatic increases in tissue concentrations of EC, a hallmark feature of Wolman Disease and Cholesteryl Ester Storage Disease (CESD)...
March 16, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28321238/association-of-non-synonymous-variants-in-wipf3-and-lipa-genes-with-abdominal-aortic-aneurysm-an-autopsy-study
#2
Yuko Maeda, Noriko Sato, Makiko Naka-Mieno, Seijiro Mori, Tomio Arai, Masashi Tanaka, Masaaki Muramatsu, Motoji Sawabe
BACKGROUND: Abdominal aortic aneurysm (AAA) is a multifactorial disease with strong genetic components. Various genetic loci have been associated with clinical AAA, but few studies have investigated pathological AAA, an intermediate phenotype of the disease. METHODS: We examined 2263 consecutive autopsies of older Japanese subjects from a study on geriatric diseases in Japanese individuals (The JG-SNP study). The presence of AAA was determined with a pathological diagnosis during autopsy...
December 2016: Journal of Geriatric Cardiology: JGC
https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#3
REVIEW
James J Maciejko
Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes. Deficient LAL activity causes accumulation of these lipids in lysosomes and a marked decrease in the cytoplasmic free cholesterol concentration, leading to dysfunctional cholesterol homeostasis. The accumulation of neutral lipid occurs predominantly in liver, spleen, and macrophages throughout the body, and the aberrant cholesterol homeostasis causes a marked dyslipidemia...
February 14, 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/28115011/recombinant-production-of-the-antibody-fragment-d1-3-scfv-with-different-bacillus-strains
#4
Antonia Lakowitz, Rainer Krull, Rebekka Biedendieck
BACKGROUND: Different strains of the genus Bacillus are versatile candidates for the industrial production and secretion of heterologous proteins. They can be cultivated quite easily, show high growth rates and are usually non-pathogenic and free of endo- and exotoxins. They have the ability to secrete proteins with high efficiency into the growth medium, which allows cost-effective downstream purification processing. Some of the most interesting and challenging heterologous proteins are recombinant antibodies and antibody fragments...
January 23, 2017: Microbial Cell Factories
https://www.readbyqxmd.com/read/28068366/overproduction-of-%C3%AE-lipoic-acid-by-gene-manipulated-escherichia-coli
#5
Yirong Sun, Wenbin Zhang, Jincheng Ma, Hongshen Pang, Haihong Wang
Alpha-lipoic acid (LA) is an important enzyme cofactor widely used by organisms and is also a natural antioxidant for the treatment of pathologies driven by low levels of endogenous antioxidants. In order to establish a safer and more efficient process for LA production, we developed a new biological method for LA synthesis based on the emerging knowledge of lipoic acid biosynthesis. We first cloned the lipD gene, which encodes the lipoyl domain of the E2 subunit of pyruvate dehydrogenase, allowing high levels of LipD production...
2017: PloS One
https://www.readbyqxmd.com/read/27827461/association-and-interaction-of-apoa5-bud13-cetp-lipa-and-health-related-behavior-with-metabolic-syndrome-in-a-taiwanese-population
#6
Eugene Lin, Po-Hsiu Kuo, Yu-Li Liu, Albert C Yang, Chung-Feng Kao, Shih-Jen Tsai
Increased risk of developing metabolic syndrome (MetS) has been associated with the APOA5, APOC1, BRAP, BUD13, CETP, LIPA, LPL, PLCG1, and ZPR1 genes. In this replication study, we reassessed whether these genes are associated with MetS and its individual components independently and/or through complex interactions in a Taiwanese population. We also analyzed the interactions between environmental factors and these genes in influencing MetS and its individual components. A total of 3,000 Taiwanese subjects were assessed in this study...
November 9, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27747194/recombination-is-a-major-driving-force-of-genetic-diversity-in-the-anaplasmataceae-ehrlichia-ruminantium
#7
Nídia Cangi, Jonathan L Gordon, Laure Bournez, Valérie Pinarello, Rosalie Aprelon, Karine Huber, Thierry Lefrançois, Luís Neves, Damien F Meyer, Nathalie Vachiéry
The disease, Heartwater, caused by the Anaplasmataceae E. ruminantium, represents a major problem for tropical livestock and wild ruminants. Up to now, no effective vaccine has been available due to a limited cross protection of vaccinal strains on field strains and a high genetic diversity of Ehrlichia ruminantium within geographical locations. To address this issue, we inferred the genetic diversity and population structure of 194 E. ruminantium isolates circulating worldwide using Multilocus Sequence Typing based on lipA, lipB, secY, sodB, and sucA genes...
2016: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/27624512/lysosomal-acid-lipase-deficiency-unmasked-in-two-children-with-nonalcoholic-fatty-liver-disease
#8
Ryan W Himes, Sarah E Barlow, Kevin Bove, Norma M Quintanilla, Rachel Sheridan, Rohit Kohli
Lysosomal acid lipase deficiency (LAL-D) is a classic lysosomal storage disorder characterized by accumulation of cholesteryl ester and triglyceride. Although it is associated with progressive liver injury, fibrosis, and end-stage liver disease in children and adolescents, LAL-D frequently presents with nonspecific signs that overlap substantially with other, more common, chronic conditions like nonalcoholic fatty liver disease (NAFLD), metabolic syndrome, and certain inherited dyslipidemias. We present 2 children with NAFLD who achieved clinically significant weight reduction through healthy eating and exercise, but who failed to have the anticipated improvements in aminotransferases and γ-glutamyl transferase...
October 2016: Pediatrics
https://www.readbyqxmd.com/read/27547017/genetic-factors-that-affect-nonalcoholic-fatty-liver-disease-a-systematic-clinical-review
#9
Tyler J Severson, Siddesh Besur, Herbert L Bonkovsky
AIM: To investigate roles of genetic polymorphisms in non-alcoholic fatty liver disease (NAFLD) onset, severity, and outcome through systematic literature review. METHODS: The authors conducted both systematic and specific searches of PubMed through December 2015 with special emphasis on more recent data (from 2012 onward) while still drawing from more historical data for background. We identified several specific genetic polymorphisms that have been most researched and, at this time, appear to have the greatest clinical significance on NAFLD and similar hepatic diseases...
August 7, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/27508094/tmem45a-serpinb5-and-p16ink4a-transcript-levels-are-predictive-for-development-of-high-grade-cervical-lesions
#10
Anna Manawapat-Klopfer, Louise T Thomsen, Peter Martus, Christian Munk, Rainer Russ, Hans Gmuender, Kirsten Frederiksen, Juliane Haedicke-Jarboui, Frank Stubenrauch, Susanne K Kjaer, Thomas Iftner
Women persistently infected with human papillomavirus (HPV) type 16 are at high risk for development of cervical intraepithelial neoplasia grade 3 or cervical cancer (CIN3+). We aimed to identify biomarkers for progression to CIN3+ in women with persistent HPV16 infection. In this prospective study, 11,088 women aged 20-29 years were enrolled during 1991-1993, and re-invited for a second visit two years later. Cervical cytology samples obtained at both visits were tested for HPV DNA by Hybrid Capture 2 (HC2), and HC2-positive samples were genotyped by INNO-LiPA...
2016: American Journal of Cancer Research
https://www.readbyqxmd.com/read/27436390/detection-of-clarithromycin-resistant-helicobacter-pylori-in-clinical-specimens-by-molecular-methods-a-review
#11
REVIEW
Shi-Hai Xuan, Li-Pei Wu, Yu-Gui Zhou, Ming-Bing Xiao
Various molecular methods have been developed to rapidly detect clarithromycin (CLR) resistance in Helicobacter pylori isolates in clinical specimens. All of these assays for detecting CLR resistance in H. pylori are based on detection of mutations in the 23S rRNA gene. In this article, we summarise current knowledge regarding the detection of H. pylori CLR resistance in clinical specimens by molecular tests. The available data showed that restriction fragment length polymorphism (RFLP), 3'-mismatch PCR, DNA sequencing, the PCR line probe assay (PCR-LiPA) and fluorescence in situ hybridisation assay (FISH) are able to detect CLR-resistant H...
March 2016: Journal of Global Antimicrobial Resistance
https://www.readbyqxmd.com/read/27333729/neurobiological-bases-of-alcohol-addiction
#12
REVIEW
Ana Matošić, Srđan Marušić, Branka Vidrih, Ana Kovak-Mufić, Lipa Cicin-Šain
Alcohol addiction is a heterogeneous psychiatric disorder according to both phenotype and etiology. Difference in phenotype characteristics manifests in the manner the addiction arises, history of the alcoholic and history of drinking, comorbid disorders, and the phenomenon of abstinence difficulties. Concerning the etiology of alcoholism, the disease itself is considered to be a consequence of an interactive influence of the environment and genetic factors. Numerous researches conducted in the last decades discovered many aspects of the biochemical, cell and molecular bases of alcohol addiction, leading to a conclusion that alcoholism is, like many other addictions, a brain disease...
March 2016: Acta Clinica Croatica
https://www.readbyqxmd.com/read/27310825/the-physiological-and-molecular-characterization-of-a-small-colony-variant-of-escherichia-coli-and-its-phenotypic-rescue
#13
Victor Santos, Irvin Hirshfield
Small colony variants (SCVs) can be defined as a naturally occurring sub-population of bacteria characterized by their reduced colony size and distinct biochemical properties. SCVs of Staphylococcus aureus have been studied extensively over the past two decades due to their role in recurrent human infections. However, little work has been done on SCVs of Escherichia coli, and this work has focused on the physiology and morphology that define these colonies of E. coli, such as small size and slow growth. E. coli strain JW0623, has a null lipA mutation in the lipoic acid synthase gene (lipA), and is a lipoic acid auxotroph...
2016: PloS One
https://www.readbyqxmd.com/read/27269510/action-of-multiple-cell-wall-degrading-enzymes-is-required-for-elicitation-of-innate-immune-responses-during-xanthomonas-oryzae-pv-oryzae-infection-in-rice
#14
Lavanya Tayi, Roshan Maku, Hitendra Kumar Patel, Ramesh V Sonti
Xanthomonas oryzae pv. oryzae secretes a number of plant cell wall-degrading enzymes (CWDEs) whose purified preparations induce defense responses in rice. These defense responses are suppressed by X. oryzae pv. oryzae using type 3 secretion system (T3SS) effectors and a type 3 secretion system mutant (T3SS(-)) of X. oryzae pv. oryzae is an inducer of rice defense responses. We assessed the role of individual CWDEs in induction of rice defense responses during infection, by mutating them in the genetic background of a T3SS(-)...
August 2016: Molecular Plant-microbe Interactions: MPMI
https://www.readbyqxmd.com/read/27147726/sequencing-analysis-of-ns3-4a-ns5a-and-ns5b-genes-from-patients-infected-with-hepatitis-c-virus-genotypes-5-and-6
#15
Karin S Ku, Ramakrishna K Chodavarapu, Ross Martin, Michael D Miller, Hongmei Mo, Evguenia S Svarovskaia
Direct-acting antivirals (DAAs) with activity against multiple genotypes of the hepatitis C virus (HCV) were recently developed and approved for standard-of-care treatment. However, sequencing assays to support HCV genotype 5 and 6 analysis are not widely available. Here, we describe the development of a sequencing assay for the NS3/4A, NS5A, and NS5B genes from HCV genotype 5 and 6 patient isolates. Genotype- and subtype-specific primers were designed to target NS3/4A, NS5A, and NS5B for cDNA synthesis and nested PCR amplification...
July 2016: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/27142276/cell-bound-lipases-from-burkholderia-sp-zyb002-gene-sequence-analysis-expression-enzymatic-characterization-and-3d-structural-model
#16
Zhengyu Shu, Hong Lin, Shaolei Shi, Xiangduo Mu, Yanru Liu, Jianzhong Huang
BACKGROUND: The whole-cell lipase from Burkholderia cepacia has been used as a biocatalyst in organic synthesis. However, there is no report in the literature on the component or the gene sequence of the cell-bound lipase from this species. Qualitative analysis of the cell-bound lipase would help to illuminate the regulation mechanism of gene expression and further improve the yield of the cell-bound lipase by gene engineering. RESULTS: Three predictive cell-bound lipases, lipA, lipC21 and lipC24, from Burkholderia sp...
2016: BMC Biotechnology
https://www.readbyqxmd.com/read/27127007/shwachman-diamond-syndrome-presenting-with-early-ichthyosis-associated-dermal-and-epidermal-intracellular-lipid-droplets-hypoglycemia-and-later-distinctive-clinical-sds-phenotype
#17
Emmanuel Scalais, Anne-Catherine Connerotte, Karine Despontin, Armand Biver, Chantal Ceuterick-de Groote, Marielle Alders, Athanassios Kolivras, Jean-Pierre Hachem, Linda De Meirleir
Shwachman-Diamond syndrome (SDS) is a recessive ribosomopathy, characterized by bone marrow failure and exocrine pancreatic insufficiency (ePI) often associated with neurodevelopmental and skeletal abnormalities. The aim of this report is to describe a SDS patient with early ichthyosis associated with dermal and epidermal intracellular lipid droplets (iLDs), hypoglycemia and later a distinctive clinical SDS phenotype. At 3 months of age, she had ichthyosis, growth retardation, and failure to thrive. She had not cytopenia...
July 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26913919/molecular-diagnosis-of-glycogen-storage-disease-and-disorders-with-overlapping-clinical-symptoms-by-massive-parallel-sequencing
#18
Ana I Vega, Celia Medrano, Rosa Navarrete, Lourdes R Desviat, Begoña Merinero, Pilar Rodríguez-Pombo, Isidro Vitoria, Magdalena Ugarte, Celia Pérez-Cerdá, Belen Pérez
PURPOSE: Glycogen storage disease (GSD) is an umbrella term for a group of genetic disorders that involve the abnormal metabolism of glycogen; to date, 23 types of GSD have been identified. The nonspecific clinical presentation of GSD and the lack of specific biomarkers mean that Sanger sequencing is now widely relied on for making a diagnosis. However, this gene-by-gene sequencing technique is both laborious and costly, which is a consequence of the number of genes to be sequenced and the large size of some genes...
October 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/26901676/dna-copy-number-aberrations-and-human-papillomavirus-status-in-penile-carcinoma-clinico-pathological-correlations-and-potential-driver-genes
#19
Susannah La-Touche, Christophe Lemetre, Maryou Lambros, Elzbieta Stankiewicz, Charlotte K Y Ng, Britta Weigelt, Ramzi Rajab, Brendan Tinwell, Cathy Corbishley, Nick Watkin, Dan Berney, Jorge S Reis-Filho
Penile squamous cell carcinoma is a rare disease, in which somatic genetic aberrations have yet to be characterized. We hypothesized that gene copy aberrations might correlate with human papillomavirus status and clinico-pathological features. We sought to determine the spectrum of gene copy number aberrations in a large series of PSCCs and to define their correlations with human papillomavirus, histopathological subtype, and tumor grade, stage and lymph node status. Seventy formalin-fixed, paraffin embedded penile squamous cell carcinomas were centrally reviewed by expert uropathologists...
2016: PloS One
https://www.readbyqxmd.com/read/26876337/prevalence-of-mutations-in-hbv-dna-polymerase-gene-associated-with-nucleos-t-ide-resistance-in-treatment-naive-patients-with-chronic-hepatitis-b-in-central-china
#20
Youyun Zhao, Jianhua Wu, Lijun Sun, Guangzhong Liu, Bo Li, Yi Zheng, Xiaodong Li, Junxiu Tao
OBJECTIVE: There are a lot of disagreements in the studies on hepatitis B virus (HBV) DNA polymerase mutation rate associated with nucleos(t)ide analogues (NAs) in treatment-naive chronic hepatitis B (CHB) patients. This is the first study aimed to investigate the prevalence of spontaneous HBV resistance mutations in Central China. METHODS: This study included treatment-naive patients with CHB from June 2012 to May 2015 receiving care at the Institute of Liver Disease in Central China...
March 2016: Brazilian Journal of Infectious Diseases
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