Results 31 to 40 of about 6,542 (163)

Hepatic lysosomal acid lipase overexpression worsens hepatic inflammation in mice fed a Western diet

Journal of Lipid Research, 2021
Nonalcoholic fatty liver disease (NAFLD) is characterized by the accumulation of lipid droplets in hepatocytes. NAFLD development and progression is associated with an increase in hepatic cholesterol levels and decreased autophagy and lipophagy flux ...
Michael W. Lopresti, Wenqi Cui, Breann E. Abernathy, Gavin Fredrickson, Fanta Barrow, Arnav S. Desai, Xavier S. Revelo, Douglas G. Mashek   +7 more
doaj   +1 more source

Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program

Frontiers in Genetics, 2022
Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive lysosomal storage disorder, caused by homozygous or compound heterozygous pathogenic variants in the LIPA gene.
Ursa Sustar, Ursa Sustar, Urh Groselj, Urh Groselj, Urh Groselj, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Matej Mlinaric, Jernej Kovac, Martin Thaler, Ana Drole Torkar, Ana Drole Torkar, Ajda Skarlovnik, Tadej Battelino, Tadej Battelino, Tinka Hovnik, Tinka Hovnik   +16 more
doaj   +1 more source

Molecular switching system using glycosylphosphatidylinositol to select cells highly expressing recombinant proteins

Scientific Reports, 2017
Although many pharmaceutical proteins are produced in mammalian cells, there remains a challenge to select cell lines that express recombinant proteins with high productivity.
Emmanuel Matabaro, Zeng’an He, Yi-Shi Liu, Hui-Jie Zhang, Xiao-Dong Gao, Morihisa Fujita   +5 more
doaj   +1 more source

Overexpression of lipA or glpD_RuBisCO in the Synechocystis sp. PCC 6803 Mutant Lacking the Aas Gene Enhances Free Fatty-Acid Secretion and Intracellular Lipid Accumulation [PDF]

International Journal of Molecular Sciences, 2021
Although engineered cyanobacteria for the production of lipids and fatty acids (FAs) are intelligently used as sustainable biofuel resources, intracellularly overproduced FAs disturb cellular homeostasis and eventually generate lethal toxicity. In order to improve their production by enhancing FFAs secretion into a medium, we constructed three ...
Kamonchanock Eungrasamee, Aran Incharoensakdi, Peter Lindblad, Saowarath Jantaro   +3 more
openaire   +3 more sources

bldA-dependent expression of the Streptomyces exfoliatus M11 lipase gene (lipA) is mediated by the product of a contiguous gene, lipR, encoding a putative transcriptional activator [PDF]

Journal of Bacteriology, 1997
Extracellular lipase synthesis by Streptomyces lividans 66 carrying the cloned lipase gene (lipA) from Streptomyces exfoliatus M11 was found to be growth phase dependent, since lipase was secreted into the medium mainly during the stationary phase; S1 nuclease protection experiments revealed abundant lipA transcripts in RNA preparations obtained during
L, Servín-González, C, Castro, C, Pérez, M, Rubio, F, Valdez   +4 more
openaire   +2 more sources

Novel Mutation in a Patient with Cholesterol Ester Storage Disease

Case Reports in Genetics, 2015
Cholesterol ester storage disease (CESD) is a chronic liver disease that typically presents with hepatomegaly. It is characterized by hypercholesterolemia, hypertriglyceridemia, high-density lipoprotein deficiency, and abnormal lipid deposition within ...
Patrick Lin, Sheela Raikar, Jennifer Jimenez, Katrina Conard, Katryn N. Furuya   +4 more
doaj   +1 more source

Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease

Lipids in Health and Disease, 2005
Background Cholesterol ester storage disease (CESD) is an autosomal recessive illness that results from mutations in the LIPA gene encoding lysosomal acid lipase.
Wang Jian, Miskie Brooke A, Liu Dora M, Tadiboyina Venu T, Hegele Robert A   +4 more
doaj   +1 more source

Cell wall degrading enzyme induced rice innate immune responses are suppressed by the type 3 secretion system effectors XopN, XopQ, XopX and XopZ of Xanthomonas oryzae pv. oryzae. [PDF]

PLoS ONE, 2013
Innate immune responses are induced in plants and animals through perception of Damage Associated Molecular Patterns. These immune responses are suppressed by pathogens during infection. A number of studies have focussed on identifying functions of plant
Dipanwita Sinha, Mahesh Kumar Gupta, Hitendra Kumar Patel, Ashish Ranjan, Ramesh V Sonti   +4 more
doaj   +1 more source

Rescue of lysosomal acid lipase deficiency in mice by rAAV8 liver gene transfer

Communications Medicine
Background Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder caused by mutations in the LIPA gene, which results in lipid accumulation leading to multi-organ failure.
Marine Laurent, Rim Harb, Christine Jenny, Julie Oustelandt, Simon Jimenez, Jeremie Cosette, Francesca Landini, Aristide Ferrante, Guillaume Corre, Nemanja Vujic, Claudia Piccoli, Anais Brassier, Laetitia Van Wittenberghe, Giuseppe Ronzitti, Dagmar Kratky, Consiglia Pacelli, Mario Amendola   +16 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source