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[Homozygous ABCA1 gene mutated Tangier disease complicated with diabetes mellitus: a case report].
Zhonghua Nei Ke Za Zhi
September 2024
Departments of Endocrinology, Minhang Hospital, Fudan University, Shanghai 201100, China.
A Novel Symptomatic Lecithin-Cholesterol Acyltransferase Gene Mutation With Corneal Amyloidosis.
Cornea
November 2024
Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany.
Purpose: To present ocular clinical, histological, systemic, and genetic findings of a patient with familial lecithin-cholesterol acyltransferase (LCAT) deficiency caused by a novel genetic variant of the LCAT gene associated with secondary corneal amyloidosis.
Methods: Case report.
Results: A 74-year-old woman presented with decreased visual acuity (VA), sensitivity to light, and progressive whitening of both corneas for approximately 20 years.
Rescue of Familial Lecithin:Cholesterol Acyltranferase Deficiency Mutations with an Allosteric Activator.
Mol Pharmacol
September 2024
Department of Molecular Pharmacology, University of Michigan, Ann Arbor, Michigan (K.A.M., G.E.T., L.C.); Division of Pharmaceutical Biosciences, Faculty of Pharmacy, University of Helsinki, Helsinki, Finland (A.N., L.G., A.K.); and Departments of Biological Sciences and of Medicinal Chemistry and Molecular Pharmacology, Purdue University, West Lafayette, Indiana (J.J.G.T.)
Lecithin:cholesterol acyltransferase (LCAT) deficiencies represent severe disorders characterized by aberrant cholesterol esterification in plasma, leading to life-threatening conditions. This study investigates the efficacy of Compound 2, a piperidinyl pyrazolopyridine allosteric activator that binds the membrane-binding domain of LCAT, in rescuing the activity of LCAT variants associated with disease. The variants K218N, N228K, and G230R, all located in the cap and lid domains of LCAT, demonstrated notable activity restoration in response to Compound 2.
View Article and Find Full Text PDFABCA1 deficiency causes tissue-specific dysregulation of the SREBP2 pathway in mice.
Biochim Biophys Acta Mol Cell Biol Lipids
December 2024
Department of Food and Nutritional Sciences, Chubu University, Kasugai 487-8501, Japan.
ABCA1 plays an essential role in the formation of high-density lipoprotein (HDL), and its mutations cause Tangier disease (TD), a familial HDL deficiency. In addition to the disappearance of HDL, TD patients exhibit cholesterol deposition in peripheral tissues through a mechanism poorly understood, which may contribute to the development of premature atherosclerosis. We and others previously showed that ABCA1 deficiency causes hyperactivation of the SREBP2 pathway in vitro.
View Article and Find Full Text PDFLongitudinal analysis of clinical and laboratory biomarkers in a patient with familial lecithin: cholesterol acyltransferase deficiency (FLD) and accelerated eGFR decline: A case study.
J Clin Lipidol
August 2024
Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA (Mr Alfaro, Drs Vitali and Cuchel). Electronic address:
Familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is an ultra-rare autosomal recessive disease characterized by very low high-density lipoprotein cholesterol (HDL-C) levels, corneal opacity, anemia, and progressive renal disease. The rate and severity of renal disease are variable across FLD patients and the biomarkers and risk factors for disease progression are poorly understood. Here we report a 30 year-long comparative analysis of the clinical and laboratory biomarkers in an FLD patient with accelerated renal decline, who underwent two kidney and one liver transplantations.
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