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LIPA gene

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https://www.readbyqxmd.com/read/29775711/co-expression-purification-and-characterization-of-the-lipase-and-foldase-of-burkholderia-contaminans-lteb11
#1
Robson Carlos Alnoch, Adriano Alves Stefanello, Viviane de Paula Martini, Jeferson Luiz Richter, Cesar Mateo, Emanuel Maltempi de Souza, David Alexander Mitchell, Marcelo Muller-Santos, Nadia Krieger
Genes encoding lipase LipBC (lipA) and foldase LifBC (lipB) were identified in the genome of Burkholderia contaminans LTEB11. Analysis of the predicted amino acid sequence of lipA showed its high identity with lipases from Pseudomonas luteola (91%), Burkholderia cepacia (96%) and Burkholderia lata (97%), and classified LipBC lipase in the lipase subfamily I.2. The genes lipA and lipB were amplified and cloned into expression vectors pET28a(+) and pT7-7, respectively. His-tagged LipBC and native LifBC were co-expressed in Escherichia coli and purified...
May 15, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29702543/a-novel-mutation-c-153-c-a-in-a-tunisian-girl-with-wolman-disease-and-unusual-presentation-hemophagocytic-lymphohistiocytosis
#2
Faten Tinsa, Manel Ben Romdhane, Hela Boudabous, Imen Bel Hadj, Ines Brini, Neji Tebib, Hela Louati, Soumeya Bekri, Khadija Boussetta
Wolman disease is an ultrarare lysosomal storage disease caused by a mutation in the LIPA gene. The clinical features of Wolman disease include early onset of vomiting, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification. We report the case of a 3-month-old infant who presented clinical features of hemophagocytic lymphohistiocytosis. Genetic sequence analysis of the LIPA gene revealed homozygous mutation c.153 C>A (p.Tyr51*). The parents were heterozygous for this mutation...
April 26, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29662627/analysis-of-the-pi3k-akt-mtor-pathway-in-penile-cancer-evaluation-of-a-therapeutically-targetable-pathway
#3
Anthony Adimonye, Elzbieta Stankiewicz, Sakunthala Kudahetti, Giorgia Trevisan, Brendan Tinwell, Cathy Corbishley, Yong-Jie Lu, Nick Watkin, Daniel Berney
Objectives: To determine whether phosphatidylinositol-4,5-bisphosphate 3- kinase, catalytic subunit alpha (PIK3CA) copy number gain is common and could prove a useful marker for the activation status of the PI3K-AKT-mTOR pathway in penile squamous cell carcinoma (PSCC). Methods: Fresh frozen tissue and archival blocks were collected from 24 PSCC patients with 15 matched normal penile epithelium (NPE) tissue from St George's Hospital. PIK3CA mutational and copy number status (CNS) was assessed via Sanger sequencing and fluorescence in-situ hybridisation, respectively...
March 23, 2018: Oncotarget
https://www.readbyqxmd.com/read/29622767/pex5-regulates-autophagy-via-the-mtorc1-tfeb-axis-during-starvation
#4
So Young Eun, Joon No Lee, In-Koo Nam, Zhi-Qiang Liu, Hong-Seob So, Seong-Kyu Choe, RaeKil Park
Defects in the PEX5 gene impair the import of peroxisomal matrix proteins, leading to nonfunctional peroxisomes and other associated pathological defects such as Zellweger syndrome. Although PEX5 regulates autophagy process in a stress condition, the mechanisms controlling autophagy by PEX5 under nutrient deprivation are largely unknown. Herein, we show a novel function of PEX5 in the regulation of autophagy via Transcription Factor EB (TFEB). Under serum-starved conditions, when PEX5 is depleted, the mammalian target of rapamycin (mTORC1) inhibitor TSC2 is downregulated, which results in increased phosphorylation of the mTORC1 substrates, including 70S6K, S6K, and 4E-BP-1...
April 6, 2018: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29596990/improved-inducible-expression-of-bacillus-naganoensis-pullulanase-from-recombinant-bacillus-subtilis-by-enhancer-regulation
#5
Yi Deng, Yao Nie, Yu Zhang, Yue Wang, Yan Xu
Pullulanase is crucial to the specific hydrolysis of branch points in amylopectin and is generally employed as an important enzyme in the starch-processing industry. Recombinant Bacillus subtilis that employs an inducible promoter would be a suitable candidate for pullulanase expression because of its safety and controllable production, but its level of pullulanase activity is relatively low. In this study, we investigated the effect of the enhancers DegQ, DegU, and DegS on pullulanase expression in a recombinant B...
March 26, 2018: Protein Expression and Purification
https://www.readbyqxmd.com/read/29561990/clinical-anthropometric-and-biochemical-characteristics-of-patients-with-or-without-genetically-confirmed-familial-hypercholesterolemia
#6
Andrea De Lorenzo, Juliana Duarte Lopes da Silva, Cinthia E James, Alexandre C Pereira, Annie Seixas Bello Moreira
BACKGROUND: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder, characterized by a high level of low-density lipoprotein cholesterol (LDL-C) and a high risk of premature cardiovascular disease. OBJECTIVE: To evaluate clinical and anthropometric characteristics of patients with the familiar hypercholesterolemia (FH) phenotype, with or without genetic confirmation of FH. METHODS: Forty-five patients with LDL-C > 190 mg/dl were genotyped for six FH-related genes: LDLR, APOB, PCSK9, LDLRAP1, LIPA and APOE...
February 2018: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/29547398/lysosomal-acid-lipase-and-lipid-metabolism-new-mechanisms-new-questions-and-new-therapies
#7
Hanrui Zhang
PURPOSE OF REVIEW: Lysosomal acid lipase (LAL), encoded by the LIPA gene, is an essential lysosomal enzyme that hydrolyzes cholesteryl ester and triglyceride delivered to the lysosome. This review highlights the novel pathophysiological role of LAL, the functional genomic discoveries of LIPA as a risk locus for coronary heart diseases (CHD), and the clinical advance in therapies for LAL deficiency. RECENT FINDINGS: The essential role of LAL in lipid metabolism has been confirmed in human and mice with LAL deficiency...
June 2018: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29527374/lysosomal-acid-lipase-deficiency-report-of-five-cases-across-the-age-spectrum
#8
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29447902/the-erythrocyte-osmotic-resistance-test-as-screening-tool-for-cholesterol-related-lysosomal-storage-diseases
#9
Laura López de Frutos, Jorge J Cebolla, Pilar Irún, Ralf Köhler, Pilar Giraldo
BACKGROUND: Erythrocyte volume regulation and membrane elasticity are essential for adaptation to osmotic and mechanical stress, and life span. Here, we evaluated whether defective cholesterol trafficking caused by the rare lysosomal storages diseases (LSDs), Niemann-Pick type C (NPC) and Lysosomal acid lipase (LAL) deficiency (LALD) impairs these properties. Moreover, we tested whether measurements of cholesterol membrane content and osmotic resistance serve as a screening test for these LSDs...
May 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29366243/targeted-sequencing-of-apoc3-gckr-lipa-ppp1r3b-ncan-lyplal1-and-tm6sf2-genes-in-patients-with-nonalcoholic-fatty-liver-disease-nafld
#10
Alessia Di Costanzo, Francesca Belardinilli, Diego Bailetti, Marialuisa Sponziello, Laura D'Erasmo, Licia Polimeni, Francesco Baratta, Maria Del Ben, Giuseppe Giannini, Francesco Angelico, Marcello Arca
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29366166/lysosomal-acid-lipase-deficiency-diagnostics-and-mutation-spectrum-of-lipa-gene-in-cohort-of-patients-with-hypercolesterolemia
#11
Ekaterina Zakharova, Elena Kamenets, Galina Baydakova, Svetlana Mikhaylova, Tatiana Strokova, Madlena Bagaeva, Alla Lavrova, Maria Amelina, Natalia Pichkur
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29332587/lysosomal-acid-lipase-deficiency-could-dyslipidemia-drive-the-diagnosis
#12
REVIEW
Ornella Guardamagna, Federica Guaraldi
LAL-deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesteryl esters and triglycerides, whose manifestations are very heterogeneous in terms of the age of onset, severity and the type of clinical and radiological manifestations. Dyslipidemia, hepatomegaly and hepatosteatosis with increased levels of transaminases are the most common features. The increased risk of premature atherosclerosis and cardiovascular disorders, secondary to a generalized alteration of lipid profile and lipoprotein dysfunction associated with LAL-D, has been increasingly pointed out...
2017: Current Pediatric Reviews
https://www.readbyqxmd.com/read/29302509/a-novel-homozygous-lipa-mutation-in-a-korean-child-with-lysosomal-acid-lipase-deficiency
#13
Kwang Yeon Kim, Ju Whi Kim, Kyung Jae Lee, Eunhyang Park, Gyeong Hoon Kang, Young Hun Choi, Woo Sun Kim, Jung Min Ko, Jin Soo Moon, Jae Sung Ko
Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in hepatocytes, septal fibrosis and foamy macrophages. Ultrastructural examination demonstrated numerous lysosomes that contained lipid material and intracytoplasmic cholesterol clefts...
December 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/29246491/impact-of-loss-of-soat2-function-on-disease-progression-in-the-lysosomal-acid-lipase-deficient-mouse
#14
Adam M Lopez, Jen-Chieh Chuang, Stephen D Turley
Although only a small proportion of cholesterol in the body is esterified, in several diseases marked expansion of the esterified cholesterol (EC) pool occurs. These include Wolman disease (WD) and Cholesteryl Ester Storage Disease (CESD) which both result from mutations in LIPA, the gene that encodes lysosomal acid lipase (LAL). The respective contributions that our three cholesterol esterifying enzymes make to EC production, especially in disorders like CESD, are not well defined. The current studies represent a detailed exploration of our earlier findings in young male LAL-deficient mice also missing sterol O-acyltransferase 2 (SOAT2, also called ACAT2)...
February 2018: Steroids
https://www.readbyqxmd.com/read/29244767/regulatory-elements-located-in-the-upstream-region-of-the-rhizobium-leguminosarum-rosr-global-regulator-are-essential-for-its-transcription-and-mrna-stability
#15
Kamila Rachwał, Paulina Lipa, Iwona Wojda, José-María Vinardell, Monika Janczarek
Rhizobium leguminosarum bv. trifolii is a soil bacterium capable of establishing a symbiotic relationship with clover ( Trifolium spp.). Previously, the rosR gene, encoding a global regulatory protein involved in motility, synthesis of cell-surface components, and other cellular processes was identified and characterized in this bacterium. This gene possesses a long upstream region that contains several regulatory motifs, including inverted repeats (IRs) of different lengths. So far, the role of these motifs in the regulation of rosR transcription has not been elucidated in detail...
December 15, 2017: Genes
https://www.readbyqxmd.com/read/29234937/-lysosomal-acid-lipase-deficiency-lal-d-diagnostic-and-therapeutic-options-in-an-underdiagnosed-disease
#16
REVIEW
S Synoracki, S Kathemann, K W Schmid, H Jastrow, H A Baba
BACKGROUND AND CLINICAL SETTING: Lysosomal acid lipase deficiency is an autosomal recessive storage disease caused by mutations in the LIPA gene. The accumulation of cholesteryl esters and triglycerides in hepatocytes lead to hepatomegaly with progressive fibrosis and liver cirrhosis. Characteristically, patients have a hepatomegaly combined with high serum levels of cholesterol, LDL-cholesterol and in some cases triglyceride, whereas HDL-cholesterol is decreased. Histologically, hepatocytes show a microvesicular steatosis with typically ballooned Kupffer cells...
December 12, 2017: Der Pathologe
https://www.readbyqxmd.com/read/29196158/prevalence-of-cholesteryl-ester-storage-disease-among-hypercholesterolemic-subjects-and-functional-characterization-of-mutations-in-the-lysosomal-acid-lipase-gene
#17
Terje Vinje, Lene Wierød, Trond P Leren, Thea Bismo Strøm
Lysosomal acid lipase hydrolyzes cholesteryl esters and triglycerides contained in low density lipoprotein. Patients who are homozygous or compound heterozygous for mutations in the lysosomal acid lipase gene (LIPA), and have some residual enzymatic activity, have cholesteryl ester storage disease. One of the clinical features of this disease is hypercholesterolemia. Thus, patients with hypercholesterolemia who do not carry a mutation as a cause of autosomal dominant hypercholesterolemia, may actually have cholesteryl ester storage disease...
February 2018: Molecular Genetics and Metabolism
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
#18
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...
April 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29051382/destruction-and-reformation-of-an-iron-sulfur-cluster-during-catalysis-by-lipoyl-synthase
#19
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
#20
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
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