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LIPA gene

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https://www.readbyqxmd.com/read/28659158/neural-stem-cells-for-disease-modeling-of-wolman-disease-and-evaluation-of-therapeutics
#1
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
#2
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
#3
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
#4
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 (CEs) and retinyl esters (REs). We previously provided evidence for the presence of two distinct LD pools, a pre-existing and a dynamic LD pool. Here we investigate the mechanisms of neutral lipid metabolism in the pre-existing 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, CE and RE in both rat and mouse HSCs...
June 14, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28611758/genome-wide-analyses-reveal-genes-subject-to-positive-selection-in-pasteurella-multocida
#5
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
#6
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...
May 23, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28533767/characterization-of-mycobacterium-chelonae-like-strains-by-comparative-genomics
#7
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
#8
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
https://www.readbyqxmd.com/read/28502505/lysosomal-acid-lipase-deficiency-a-hidden-disease-among-cohorts-of-familial-hypercholesterolemia
#9
Joana Rita Chora, Ana Catarina Alves, Ana Margarida Medeiros, Cibelle Mariano, Goreti Lobarinhas, António Guerra, Helena Mansilha, Helena Cortez-Pinto, Mafalda Bourbon
BACKGROUND: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD. OBJECTIVE: The aim of this study was to investigate LALD in individuals with severe dyslipidemia and/or liver steatosis. METHODS: Coding, splice regions, and promoter region of LIPA were sequenced by Sanger sequencing in a cohort of mutation-negative familial hypercholesterolemia (FH) patients (n = 492) and in a population sample comprising individuals with several types of dyslipidemia and/or liver steatosis (n = 258)...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28401034/targeting-wolman-disease-and-cholesteryl-ester-storage-disease-disease-pathogenesis-and-therapeutic-development
#10
REVIEW
Francis Aguisanda, Natasha Thorne, Wei Zheng
Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene. This enzyme is critical to the proper degradation of cholesterol in the lysosome. LAL function is completely lost in WD while some residual activity remains in CESD. Both are rare diseases with an incidence rate of less than 1/100,000 births for WD and approximate 2.5/100,000 births for CESD. Clinical manifestation of WD includes hepatosplenomegaly, calcified adrenal glands, severe malabsorption and a failure to thrive...
2017: Current Chemical Genomics and Translational Medicine
https://www.readbyqxmd.com/read/28400281/the-pseudomonas-transcriptional-regulator-algr-controls-lipa-expression-via-the-noncoding-rna-rsmz-in-pseudomonas-protegens-pf-5
#11
Menggang Li, Jinyong Yan, Yunjun Yan
Pseudomonas lipases are well studied enzymes. However, few studies have been conducted to explore the mechanism underlying the regulation of lipases expression. AlgR, a global regulator, controls the expression of multiple genes, regulates bacterial peristalsis, and participates in the regulation of quorum-sensing (QS) system, and so on. In this study, the effect of AlgR on lipase expression was investigated by knocking out the algR and rsmZ genes or overexpressing them. It is found out that AlgR can regulate the expression of lipA at both transcriptional and translational levels, but the transcriptional level was dominant...
May 20, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28374935/prenatal-sonographic-findings-in-a-case-of-wolman-s-disease
#12
Matthew J Blitz, Burton Rochelson, Monica Sood, Martin G Bialer, Nidhi Vohra
No published case of Wolman's disease has described the prenatal sonographic findings. We present a case in which a third-trimester sonographic examination demonstrated fetal hepatomegaly and bilateral adrenal echogenicity suggestive of diffuse calcification. Wolman's disease, also known as lysosomal acid lipase (LIPA) deficiency, is a rare autosomal-recessive disorder characterized by complete absence of the LIPA enzyme. The diagnosis of Wolman's disease was made postnatally by biochemical testing, which indicated absence of LIPA enzyme activity and gene sequencing, which confirmed homozygosity for the G66V mutation within the LIPA gene...
April 4, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28347342/identification-and-analysis-of-genomic-islands-in-burkholderia-cenocepacia-au-1054-with-emphasis-on-pathogenicity-islands
#13
Feng-Biao Guo, Lifeng Xiong, Kai-Yue Zhang, Chuan Dong, Fa-Zhan Zhang, Patrick C Y Woo
BACKGROUND: Genomic islands (GIs) are genomic regions that reveal evidence of horizontal DNA transfer. They can code for many functions and may augment a bacterium's adaptation to its host or environment. GIs have been identified in strain J2315 of Burkholderia cenocepacia, whereas in strain AU 1054 there has been no published works on such regions according to our text mining and keyword search in Medline. RESULTS: In this study, we identified 21 GIs in AU 1054 by combining two computational tools...
March 27, 2017: BMC Microbiology
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
#14
COMPARATIVE STUDY
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)...
July 1, 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
#15
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
#16
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...
June 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
#17
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
#18
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
#19
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
#20
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
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