Results 121 to 130 of about 6,542 (163)

Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group. [PDF]

Orphanet J Rare Dis
AlSayed M, Al Rasadi K, AlDhaheri NS, Al-Hussaini A, Awaji A, Al Tenaiji A, Bzeizi KI, Miqdady M, Al Hashmi N, Alfadhel M.   +9 more
europepmc   +1 more source

Assessing improved surveillance of leprosy drug resistance in Madagascar: A pilot study in the Miandrivazo district

MAHARAVO L, Ramboarina S, Braet SM, Corstjens P, de Jong D, Randrianantoandro A, Andrianiriana LMJ, Andrianarivelo MR, Berland JL, Cambau E, Supply P, Jouet A, Hasker E, de Jong BC, Cauchoix B, Rasamoelina T, Samison LH, Geluk A.   +17 more
europepmc   +1 more source

LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters [PDF]

Atherosclerosis, 2020
Cholesteryl ester storage disease (CESD) due to LIPA gene mutations is characterized by hepatic steatosis, hypercholesterolemia and hypoalphalipoproteinemia, exposing affected patients to an increased cardiovascular risk. Further insights into the impact of LIPA gene mutations on lipid/lipoprotein metabolism are limited.
Laura Calabresi, Chiara Pavanello, Livia Pisciotta   +2 more
exaly   +5 more sources

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Study on the bio-function of lipA gene in Aspergillus flavus

Genes and Genomics, 2018
Lipoic acid synthase (LipA) plays a role in lipoic acid synthesis and potentially affects the levels of acetyl-CoA, the critical precursor of tricarboxylic acid (TCA) cycle. Considering the potential effect of LipA on TCA cycle, whether the enzyme is involved in the growth and aflatoxin B1 (AFB1) biosynthesis, the significant events in Aspergillus ...
Kunzhi Jia, Opemipo Esther Fasoyin
exaly   +3 more sources

Tri- and tetranucleotide repeat polymorphism in the LIPA gene.

Human Molecular Genetics, 1994
Gerd Schmitz, K J Lackner, C Aslanidis
exaly   +3 more sources

The lipA gene of Serratia marcescens which encodes an extracellular lipase having no N-terminal signal peptide. [PDF]

Journal of Bacteriology, 1994
The lipA gene encoding an extracellular lipase was cloned from the wild-type strain of Serratia marcescens Sr41. Nucleotide sequencing showed a major open reading frame encoding a 64.9-kDa protein of 613 amino acid residues; the deduced amino acid sequence contains a lipase consensus sequence, GXSXG.
E Kawai, S Komatsubara, H Akatsuka
exaly   +3 more sources

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene

Molecular Genetics and Metabolism, 2009
Cholesteryl Ester Storage Disease (CESD) is a rare recessive disorder due to mutations in LIPA gene encoding the lysosomal acidic lipase (LAL). CESD patients have liver disease associated with mixed hyperlipidemia and low plasma levels of high-density lipoproteins (HDL).
PISCIOTTA, LIVIA, FRESA, RAFFAELE, Bellocchio A, Pino E, Guido V, Cantafora A, Di Rocco M, Calandra S, BERTOLINI, STEFANO   +8 more
openaire   +3 more sources

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
Background: The LIPA gene encodes for lysosomal acid lipase (LAL), which catalyzes the hydrolysis of cholesterol esters and triglycerides. Variations in the LIPA gene impair LAL activity, predisposing patients to a rare metabolic disorder called LAL deficiency (LAL-D). The lack of functioning LAL promotes lipid accumulation and subsequent dyslipidemia,
Jayden Jackson, Justin Farajzadeh, Robert Turner, Kevin Yukutake, Eric Baghdasaryan, Emily St. Denis, Tigran Barseghyan, Pamela Herrera, Safedin Begaj, Marvin Pietruszka, Yadira Valles-Ayoub   +10 more
openaire   +2 more sources

Regulation of lipA Gene Expression by Cell Surface Proteins in Arthrobacter photogonimos

Current Microbiology, 1999
Expression of the light-inducible lipA gene in Arthrobacter photogonimos by photodynamic compounds and visible light was inhibited by washing cells with 1 M KCl. Addition of cell surface extract to KCl-washed cells restored the induction. Washing cells with 1 M MgCl2 removed a 14-kDa polypeptide and concomitantly caused expression of lipA gene without ...
J Kenneth Hoober
exaly   +3 more sources

A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease

Clinica Chimica Acta, 2008
Lysosomal acid lipase plays an important role in maintaining cellular cholesterol homeostasis. Complete absence of lysosomal acid lipase activity results in Wolman disease and usually death in infancy, whereas partial deficiency of lysosomal acid lipase results in cholesteryl ester storage disease (CESD).
Hooper, Amanda J., Tran, Huy A., Formby, Mark R., Burnett, John R.   +3 more
openaire   +2 more sources