Results 131 to 140 of about 6,542 (163)

The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency

Molecular Genetics and Metabolism, 2019
Lysosomal acid lipase deficiency (LALD; MIM#278000) is a continuum of autosomal recessive diseases caused by defects in the gene LIPA and historically divided into two phenotypes: severe infantile-onset form called Wolman disease (WD) and childhood/adult-onset form known as cholesteryl ester storage disease (CESD).
I O, Bychkov, E A, Kamenets, A Yu, Filatova, M Yu, Skoblov, S V, Mikhaylova, T V, Strokova, O S, Gundobina, E Yu, Zakharova   +7 more
openaire   +2 more sources

Discovery of three novel lipase (lipA 1, lipA 2, and lipA 3) and lipase-specific chaperone (lipB) genes present in Acinetobacter sp. DYL129

Applied Microbiology and Biotechnology, 2008
A microbe isolated from a soil sample obtained on Deog-yu Mountain in Korea, was found to produce an extracellular lipase. This microbe, which was designated as DYL129, was identified as an Acinetobacter sp. based on phylogenetic analysis of its 16S rDNA. A genomic library was constructed by using DYL129 fragment digested with HindIII and a recombinant
Sun-Hee, Kim, In-Hye, Park, Sang-Cheol, Lee, Yong-Seok, Lee, , Zhou-Yi, Cheol-Min, Kim, Soon-Cheol, Ahn, Yong-Lark, Choi   +7 more
openaire   +2 more sources

Characterization of the extracellular lipase, LipA, of Acinetobacter calcoaceticus BD413 and sequence analysis of the cloned structural gene

Molecular Microbiology, 1995
SummaryThe extracellular lipase from Acinetobacter calcoaceticus BD413 was purified to homogeneity, via hydrophobic‐interaction fast performance liquid chromatography (FPLC), from cultures grown in mineral medium with hexadecane as the sole carbon source. The enzyme has an apparent molecular mass of 32 kDa on SDS‐polyacrylamide gels and hydrolyses long
R G, Kok, J J, van Thor, I M, Nugteren-Roodzant, M B, Brouwer, M R, Egmond, C B, Nudel, B, Vosman, K J, Hellingwerf   +7 more
openaire   +2 more sources

Association of LIPA Gene Polymorphisms With Obesity‐Related Metabolic Complications Among Severely Obese Patients

Obesity, 2012
The lipase A, lysosomal acid, cholesterol esterase enzyme (LIPA) is involved in the hydrolysis of triglycerides (TGs) and cholesteryl esters (CEs) delivered to lysosomes. LIPA deficiency in human causes two distinct phenotypes characterized by intracellular storage of CE and derangements in the control of cholesterol production, namely the Wolman ...
Frédéric, Guénard, Alain, Houde, Luigi, Bouchard, André, Tchernof, Yves, Deshaies, Simon, Biron, Odette, Lescelleur, Laurent, Biertho, Simon, Marceau, Louis, Pérusse, Marie-Claude, Vohl   +10 more
openaire   +2 more sources

[Wolman disease with novel mutation of LIPA gene in a Chinese infant].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2013
To explore the clinical characteristics of Wolman disease and diagnostic methods using enzymatic and molecular analysis.Lysosomal acid lipase activity was measured using 4-methylumbelliferyl oleate in the leukocytes of an infant suspected of Wolman disease and LIPA gene mutational analysis was performed by PCR and direct sequencing in the proband and ...
Yong-lan, Huang, Hui-ying, Sheng, Xiao-yuan, Zhao, Jia-kang, Yu, Le, Li, Hong-sheng, Liu, Cong-min, Gu, Deng-min, He, Li, Liu   +8 more
openaire   +1 more source

Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype

Protein Expression and Purification, 2015
Lysosomal acid lipase (LAL) is a serine hydrolase which hydrolyzes cholesteryl ester and triglycerides delivered to the lysosomes into free cholesterol and free fatty acids. Mutations in the LAL gene (LIPA) result in accumulation of triglycerides and cholesterol esters in various tissues of the body, leading to pathological conditions such as Wolman's ...
Francis, Rajamohan, Allan R, Reyes, Wanida, Ruangsiriluk, Lise R, Hoth, Seungil, Han, Nicole, Caspers, Meihua, Tu, Jessica, Ward, Ravi G, Kurumbail   +8 more
openaire   +2 more sources

High plasma chitotriosidase activity in an infant with rapidly progressive Wolman’s disease and novel mutation in LIPA gene

Journal of inherited metabolic disease, 2010
High plasma chitotriosidase activity in an infant with rapidly progressive Wolman’s disease and novel mutation in LIPA ...
Barić, Ivo, Petković-Ramadža, Danijela, Sarnavka, Vladimir, Rajić, Ljubica, Vuković, Jurica, Huljev Frković, Sanda   +5 more
  +5 more sources

[Clinical application of line probe assay (LiPA) for rifampicin (RFP)-resistant gene examination in sputum from tuberculosis patients].

Kekkaku : [Tuberculosis], 2010
Preventing the spread of drug-resistant tuberculosis is a clinically important challenge. In this effort, rifampicin (RFP)-resistant gene examination by line probe assay (LiPA) was evaluated for its clinical application for rapid detection of tuberculosis.The RFP-resistant gene was examined in a total of 110 samples of sputum obtained from patients ...
Takayuki, Inagaki, Tetsuya, Yagi, Kazuya, Ichikawa, Taku, Nakagawa, Makoto, Moriyama, Kei-ichi, Uchiya, Toshiaki, Nikai, Kenji, Ogawa   +7 more
openaire   +1 more source

Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles

Genetic Testing and Molecular Biomarkers, 2023
Jayden jackson
exaly  

[Two-step synthesis of the full length Aspergillus niger lipase gene lipA leads to high-level expression in Pichia pastoris].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology, 2010
Aspergillus niger lipases are important biocatalysis widely used in industries for food processing and pharmaceutical preparation. High-level expression recombinants can lead to cost effective lipase large scale production. Full length gene synthesis is an efficient measure to enhance the expression level of the gene.
Jiangke, Yang, Xiangxiang, Yan, Zhengping, Zhang, Xueqing, Jiang, Yunjun, Yan   +4 more
openaire   +1 more source