Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia.

Background: Lecithin-cholesterol acyltransferase (LCAT) is a plasma enzyme that esterifies cholesterol in high- and low-density lipoproteins (HDL and LDL). Mutations in LCAT gene causes familial LCAT deficiency, which is characterized by very low plasma HDL-cholesterol levels (Hypoalphalipoproteinemia), corneal opacity and anemia, among other lipid-related traits. Our aim is to evaluate clinical/biochemical features of a Chilean family with a proband showing clinical signs of familial LCAT deficiency, as well as to identify and assess the functional effects of LCAT mutations.

Inositol Monophosphatase: A Bifunctional Enzyme in .

Inositol monophosphatase (IMPase) is a crucial enzyme for the biosynthesis of phosphatidylinositol, an essential component in mycobacterial cell walls. IMPase A (ImpA) from is a bifunctional enzyme that also functions as a fructose-1,6-bisphosphatase (FBPase). To better understand the bifunctional nature of this enzyme, point mutagenesis was conducted on several key residues and their enzyme activity was tested.

Evaluation of disk diffusion method compared to broth microdilution for antifungal susceptibility testing of 3 echinocandins against Aspergillus spp.

We tested the susceptibility of caspofungin, micafungin, and anidulafungin against Aspergillus spp. isolates by the new Clinical and Laboratory Standards Institute M51-A disk diffusion (DD) and the broth microdilution methods. A total of 65 clinical isolates of Aspergillus spp.