Familial LCAT deficiency (FLD) is a recessive lipid disorder ultimately leading to end-stage renal disease (ESRD). We present two brothers with considerable variation in the age at which they developed ESRD. Kidney biopsies revealed both tubular and glomerular pathology. To date, no causal therapy is available, yet enzyme replacement therapy is in development.

LPL, lipoprotein lipase; TG, triglyceride; VLDL, very low density lipoproteins; HL, hepatic lipase; PL, pancreatic lipase; EL, endothelial lipase; HSPG, heparin sulfate proteoglycans; cld, combined lipase deficiency; fld, fatty liver dystrophy; LMF, lipase maturation factor; ANGPTL, angiopoietin-like; RAP, receptor-associated protein; APOA5, apolipoprotein A5; CHO, carbohydrate. Articles in Pre...

This study analyses the effect of martensite grain size and its volume fraction in dual-phase (DP) steel on (1) formability limit, (2) average global behavior under different loading conditions, (3) damage initiation. The virtual RVEs (Representative Volume Elements) were constructed using DREAM.3D software with a variation microstructural attributes. numerical simulations carried out DAMASK, w...

Human membrane bound O-acyltransferase domain-containing 7 (MBOAT7), also known as lysophosphatidylinositol acyltransferase 1 (LPIAT1), is an enzyme involved in the acyl-chain remodeling of phospholipids via Lands' cycle. The MBOAT7 rs641738 variant has been associated with entire spectrum fatty liver disease (FLD) and neurodevelopmental disorders, but exact enzymatic activity catalytic site pr...

Activator protein 1 (AP-1) is a dimeric transcription factor with important roles in specifying genetic and cellular programs. AP-1 refers to a collection of DNAbinding homoand heterodimers formed by members of the JUN (c-Jun, JunB, and JunD) and FOS (c-Fos, FosB, Fra-1, and Fra-2) families, as well as ATF and MAF proteins. AP-1 dimers recognize similar and specific sequence elements in the pro...

The combination of lanthanide ions and nitronyl nitroxide radicals resulted in four new Ln-radical one-dimensional compounds, namely, [Ln(hfac)3{NIT-Ph(OMe)2}]n(Ln(III) = Sm (1), Eu (2), Gd (3), Dy (4); hfac = hexafluoroacetylacetonate; NIT-Ph(OMe)2 = 2-(2',4'-dimethoxyphenyl)-4,4,5,5-tetramethyl-4,5-dihydro-1H-imidazolyl-1-oxyl-3-oxide). The four complexes were found to be isomorphous and exhi...