Cargando…

Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants

Familial hypercholesterolemia (FH) is an autosomal-dominant disorder caused mainly by substitutions in the low-density lipoprotein receptor (LDLR) gene, leading to an increased risk of premature cardiovascular diseases. Tremendous advances in sequencing techniques have resulted in the discovery of m...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jasiecki, Jacek, Targońska, Monika, Janaszak-Jasiecka, Anna, Chmara, Magdalena, Żuk, Monika, Kalinowski, Leszek, Waleron, Krzysztof, Wasąg, Bartosz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379666/ https://www.ncbi.nlm.nih.gov/pubmed/37511194 http://dx.doi.org/10.3390/ijms241411435

Ejemplares similares

New Insights into Butyrylcholinesterase Activity Assay: Serum Dilution Factor as a Crucial Parameter
por: Jońca, Joanna, et al.
Publicado: (2015)

The Role of Butyrylcholinesterase and Iron in the Regulation of Cholinergic Network and Cognitive Dysfunction in Alzheimer’s Disease Pathogenesis
por: Jasiecki, Jacek, et al.
Publicado: (2021)

Synergy between the alteration in the N-terminal region of butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer’s disease
por: Jasiecki, Jacek, et al.
Publicado: (2019)

Protein overproduction alters exosome secretion in Chinese hamster ovary cells
por: Steć, Aleksandra, et al.
Publicado: (2023)

Butyrylcholinesterase–Protein Interactions in Human Serum
por: Jasiecki, Jacek, et al.
Publicado: (2021)

Butyrylcholinesterase Protein Ends in the Pathogenesis of Alzheimer’s Disease—Could BCHE Genotyping Be Helpful in Alzheimer’s Therapy?
por: Jasiecki, Jacek, et al.
Publicado: (2019)

Aortic valve calcium score in hypercholesterolemic patients with and without low-density lipoprotein receptor gene mutation
por: Gałąska, Rafal, et al.
Publicado: (2018)

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients
por: Krawczynska, Natalia, et al.
Publicado: (2019)

Endothelial Dysfunction Driven by Hypoxia—The Influence of Oxygen Deficiency on NO Bioavailability
por: Janaszak-Jasiecka, Anna, et al.
Publicado: (2021)

Endothelial dysfunction due to eNOS uncoupling: molecular mechanisms as potential therapeutic targets
por: Janaszak-Jasiecka, Anna, et al.
Publicado: (2023)

Low-Density Lipoprotein Receptor (LDLR) Family Orchestrates Cholesterol Homeostasis
por: Go, Gwang-woong, et al.
Publicado: (2012)

Characterization of low density lipoprotein receptor (LDLR) gene mutations in Albania
por: Diakou, Maria, et al.
Publicado: (2010)

Long-term lipoprotein apheresis in the treatment of severe familial hypercholesterolemia refractory to high intensity statin therapy: Three year experience at a lipoprotein apheresis center
por: Mickiewicz, Agnieszka, et al.
Publicado: (2020)

Membrane Vesicles of Pectobacterium as an Effective Protein Secretion System
por: Jonca, Joanna, et al.
Publicado: (2021)

The molecular profile in patients with polycythemia vera and essential thrombocythemia is dynamic and correlates with disease’s phenotype
por: Sobieralski, Patryk, et al.
Publicado: (2023)

Posttranscriptional and transcriptional regulation of endothelial nitric-oxide synthase during hypoxia: the role of microRNAs
por: Kalinowski, Leszek, et al.
Publicado: (2016)

The algorithm for Alzheimer risk assessment based on APOE promoter polymorphisms
por: Limon-Sztencel, Anna, et al.
Publicado: (2016)

Quality Control of Bacterial Extracellular Vesicles with Total Protein Content Assay, Nanoparticles Tracking Analysis, and Capillary Electrophoresis
por: Steć, Aleksandra, et al.
Publicado: (2022)

Detection of somatic BRCA1/2 mutations in ovarian cancer – next‐generation sequencing analysis of 100 cases
por: Koczkowska, Magdalena, et al.
Publicado: (2016)

eNOS expression and NO release during hypoxia is inhibited by miR-200b in human endothelial cells
por: Janaszak-Jasiecka, Anna, et al.
Publicado: (2018)

Analysis of the low density lipoprotein receptor gene (LDLR) mutation spectrum in Russian familial hypercholesterolemia
por: Vasilyev, V.B., et al.
Publicado: (2022)

miR-429 regulates the transition between Hypoxia-Inducible Factor (HIF)1A and HIF3A expression in human endothelial cells
por: Janaszak-Jasiecka, Anna, et al.
Publicado: (2016)

Detection of BRCA1/2 mutations in circulating tumor DNA from patients with ovarian cancer
por: Ratajska, Magdalena, et al.
Publicado: (2017)

Meta-Analysis of Low Density Lipoprotein Receptor (LDLR) rs2228671 Polymorphism and Coronary Heart Disease
por: Ye, Huadan, et al.
Publicado: (2014)

Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity
por: Banerjee, Poulabi, et al.
Publicado: (2019)

Spontaneous severe hypercholesterolemia and atherosclerosis lesions in rabbits with deficiency of low-density lipoprotein receptor (LDLR) on exon 7
por: Lu, Rui, et al.
Publicado: (2018)

Carotid intima–media thickness (IMT) in patients with severe familial and non-familial hypercholesterolemia: The effect of measurement site on the IMT correlation with traditional cardiovascular risk factors and calcium scores
por: Gałąska, Rafał, et al.
Publicado: (2021)

A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease
por: Gretarsdottir, Solveig, et al.
Publicado: (2015)

Low-density lipoprotein receptor (LDLR) regulates NLRP3-mediated neuronal pyroptosis following cerebral ischemia/reperfusion injury
por: Sun, Rui, et al.
Publicado: (2020)

Brain Endothelial Cells in Contrary to the Aortic Do Not Transport but Degrade Low-Density Lipoproteins via Both LDLR and ALK1
por: Kakava, Sofia, et al.
Publicado: (2022)

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia – a preliminary report
por: Paththinige, C. S., et al.
Publicado: (2018)

Berbamine inhibits Japanese encephalitis virus (JEV) infection by compromising TPRMLs-mediated endolysosomal trafficking of low-density lipoprotein receptor (LDLR)
por: Huang, Lihong, et al.
Publicado: (2021)

Multiple LDLR class A repeats on very‐low‐density lipoprotein receptor promote the cross‐species transmission of Semliki Forest virus
por: Hu, Ruolan, et al.
Publicado: (2023)

Amino acid starvation‐induced LDLR trafficking accelerates lipoprotein endocytosis and LDL clearance
por: Chen, Ye, et al.
Publicado: (2022)

Hepatic Overexpression of Soluble Urokinase Receptor (uPAR) Suppresses Diet-Induced Atherosclerosis in Low-Density Lipoprotein Receptor-Deficient (LDLR(-/-)) Mice
por: Larmann, Jan, et al.
Publicado: (2015)

Immunization with advanced glycation end products modified low density lipoprotein inhibits atherosclerosis progression in diabetic apoE and LDLR null mice
por: Zhu, Lin, et al.
Publicado: (2014)

Low-Density Lipoprotein Receptor (LDLR) Is Involved in Internalization of Lentiviral Particles Pseudotyped with SARS-CoV-2 Spike Protein in Ocular Cells
por: Uppal, Sheetal, et al.
Publicado: (2023)

New Approach to Paediatric Mastocytosis: Implications of KIT D816V Mutation Detection in Peripheral Blood
por: CZARNY, Justyna, et al.
Publicado: (2020)

miRNAs regulate the HIF switch during hypoxia: a novel therapeutic target
por: Serocki, Marcin, et al.
Publicado: (2018)

Identification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD
por: Fairoozy, Roaa Hani, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_v0hahoj8v8bd0rqpo1eq7tfopd