Cargando…

Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations

Familial lecithin:cholesterol acyltransferase deficiency (FLD) is an autosomal recessive disorder characterized by corneal opacity, hemolytic anemia, low high-density lipoprotein cholesterol (HDL-C) and proteinuria. Two novel lecithin:cholesterol acyltransferase (LCAT) mutations[c.278 C>T (p.Pro6...

Descripción completa

Detalles Bibliográficos
Autores principales:	Katayama, Akihiro, Wada, Jun, Kataoka, Hitomi Usui, Yamasaki, Hiroko, Teshigawara, Sanae, Terami, Takahiro, Inoue, Kentaro, Kanzaki, Motoko, Murakami, Kazutoshi, Nakatsuka, Atsuko, Sugiyama, Hitoshi, Koide, Norio, Bujo, Hideaki, Makino, Hirofumi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2011
Materias:	II. Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421733/ https://www.ncbi.nlm.nih.gov/pubmed/25984174 http://dx.doi.org/10.1093/ndtplus/sfr091

Ejemplares similares

Two novel variants in the lecithin:cholesterol acyltransferase gene resulted in classic LCAT deficiency
por: Fistrek Prlic, Margareta, et al.
Publicado: (2022)

Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia
por: Conca, Paola, et al.
Publicado: (2012)

Structure and function of lysosomal phospholipase A2 and lecithin:cholesterol acyltransferase
por: Glukhova, Alisa, et al.
Publicado: (2015)

Structural analysis of lecithin:cholesterol acyltransferase bound to high density lipoprotein particles
por: Manthei, Kelly A., et al.
Publicado: (2020)

Interaction of lecithin:cholesterol acyltransferase with lipid surfaces and apolipoprotein A-I-derived peptides
por: Casteleijn, Marco G., et al.
Publicado: (2018)

Molecular basis for activation of lecithin:cholesterol acyltransferase by a compound that increases HDL cholesterol
por: Manthei, Kelly A, et al.
Publicado: (2018)

A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency
por: Vitali, Cecilia, et al.
Publicado: (2022)

Familial lecithin-cholesterol acyltransferase (LCAT) deficiency; a differential of proteinuria
por: Althaf, Mohammed Mahdi, et al.
Publicado: (2015)

Beta2-adrenergic activity modulates vascular tone regulation in lecithin:cholesterol acyltransferase knockout mice
por: Manzini, S., et al.
Publicado: (2015)

Lecithin:cholesterol acyltransferase: symposium on 50 years of biomedical research from its discovery to latest findings
por: Norum, Kaare R., et al.
Publicado: (2020)

Low Plasma Lecithin: Cholesterol Acyltransferase (LCAT) Concentration Predicts Chronic Kidney Disease
por: Baragetti, Andrea, et al.
Publicado: (2020)

LCAT-trial-24 weeks: Protocol for a clinical study to evaluate the safety of regenerative medicine and gene therapy by the autologous transplantation of human lecithin:cholesterol acyltransferase gene-transduced human pre-adipocytes
por: Kuroda, Masayuki, et al.
Publicado: (2022)

The HDL mimetic CER‐001 remodels plasma lipoproteins and reduces kidney lipid deposits in inherited lecithin:cholesterol acyltransferase deficiency
por: Pavanello, Chiara, et al.
Publicado: (2021)

Serum galectin-9 levels are elevated in the patients with type 2 diabetes and chronic kidney disease
por: Kurose, Yuko, et al.
Publicado: (2013)

Urinary angiotensinogen is a marker for tubular injuries in patients with type 2 diabetes
por: Terami, Takahiro, et al.
Publicado: (2013)

Current Status of Familial LCAT Deficiency in Japan
por: Kuroda, Masayuki, et al.
Publicado: (2021)

Pemt Deficiency Ameliorates Endoplasmic Reticulum Stress in Diabetic Nephropathy
por: Watanabe, Mayu, et al.
Publicado: (2014)

Vaspin Is an Adipokine Ameliorating ER Stress in Obesity as a Ligand for Cell-Surface GRP78/MTJ-1 Complex
por: Nakatsuka, Atsuko, et al.
Publicado: (2012)

Urinary Fetuin-A Is a Novel Marker for Diabetic Nephropathy in Type 2 Diabetes Identified by Lectin Microarray
por: Inoue, Kentaro, et al.
Publicado: (2013)

Beneficial impact of Gpnmb and its significance as a biomarker in nonalcoholic steatohepatitis
por: Katayama, Akihiro, et al.
Publicado: (2015)

High-Density Lipoprotein, Lecithin: Cholesterol Acyltransferase, and Atherosclerosis
por: Ossoli, Alice, et al.
Publicado: (2016)

Corneal thickness in the case of familial lecithin-cholesterol acyltransferase deficiency
por: Kinoshita, Shinsuke, et al.
Publicado: (2021)

Hypolipidemic effect and activation of Lecithin Cholesterol Acyl Transferase (LCAT) by aqueous extract of Spirulina platensis during toxicological investigation
por: Ama Moor, Vicky Jocelyne, et al.
Publicado: (2017)

Lecithin: Cholesterol Acyltransferase and Na(+)-K(+)-ATPase Activity in Patients with Breast Cancer
por: Özmen, Hilal Kiziltunç, et al.
Publicado: (2013)

Lgals9 deficiency ameliorates obesity by modulating redox state of PRDX2
por: Nunoue, Tomokazu, et al.
Publicado: (2021)

Author Correction: Lgals9 deficiency ameliorates obesity by modulating redox state of PRDX2
por: Nunoue, Tomokazu, et al.
Publicado: (2021)

LCAT, ApoD, and ApoA1 Expression and Review of Cholesterol Deposition in the Cornea
por: Flores, Rhonda, et al.
Publicado: (2019)

Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency
por: Lamiquiz-Moneo, Itziar, et al.
Publicado: (2019)

Agonistic Human Antibodies Binding to Lecithin-Cholesterol Acyltransferase Modulate High Density Lipoprotein Metabolism
por: Gunawardane, Ruwanthi N., et al.
Publicado: (2016)

First-in-human autologous implantation of genetically modified adipocytes expressing LCAT for the treatment of familial LCAT deficiency
por: Aso, Masayuki, et al.
Publicado: (2022)

Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia
por: Tobar, Hugo E., et al.
Publicado: (2019)

Familial lecithin-cholesterol acyltransferase deficiency: If so rare, why so frequent in the state of Piauí, northeastern Brazil?
por: de Serpa Brandão, Rafael Melo Santos, et al.
Publicado: (2022)

Plasma Lecithin-Cholesterol Acyltransferase Activity in Pregnant Women Enrolled in the iLiNS-DYAD Trial in Ghana
por: Hong, Brian, et al.
Publicado: (2022)

Influence of lecithin cholesterol acyltransferase alteration during different pathophysiologic conditions: A 45 years bibliometrics analysis
por: Gao, Hongliang, et al.
Publicado: (2022)

Insufficiency of phosphatidylethanolamine N-methyltransferase is risk for lean non-alcoholic steatohepatitis
por: Nakatsuka, Atsuko, et al.
Publicado: (2016)

Corrigendum: Influence of lecithin cholesterol acyltransferase alteration during different pathophysiologic conditions: A 45 years bibliometrics analysis
por: Gao, Hongliang, et al.
Publicado: (2023)

Mechanistic Insights into the Activation of Lecithin–Cholesterol Acyltransferase in Therapeutic Nanodiscs Composed of Apolipoprotein A-I Mimetic Peptides and Phospholipids
por: Giorgi, Laura, et al.
Publicado: (2022)

Two Cases of Acquired High-Density Lipoprotein Deficiency with Immunoglobulin G4-Related Lecithin–Cholesterol Acyltransferase Autoantibody
por: Komatsu, Tomohiro, et al.
Publicado: (2023)

Lipoprotein X Causes Renal Disease in LCAT Deficiency
por: Ossoli, Alice, et al.
Publicado: (2016)

Toxoplasma gondii LCAT Primarily Contributes to Tachyzoite Egress
por: Schultz, Aric J., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_vs6b8bnedp4sfak3o4fj1gr6a6