Cargando…

Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases

BACKGROUND: Lipoprotein lipase (LPL) deficiency is a monogenic lipid metabolism disorder biochemically characterized by hypertriglyceridemia (HTG) inherited in an autosomal recessive manner. Neonatal onset LPL deficiency is rare. The purpose of this study was to clarify the clinical features of neon...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wu, Yun Qin, Hu, Yue Yuan, Li, Gui Nan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451144/ https://www.ncbi.nlm.nih.gov/pubmed/34544385 http://dx.doi.org/10.1186/s12887-021-02875-x

Ejemplares similares

Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency
por: Colima Fausto, Ana Gabriela, et al.
Publicado: (2017)

The Differential Effects of HDL Subpopulations on Lipoprotein Lipase (LPL)-Mediated VLDL Catabolism
por: Wieczorek, Ewa, et al.
Publicado: (2021)

Lipoprotein Lipase (LPL) Polymorphism and the Risk of Coronary Artery Disease: A Meta-Analysis
por: Xie, Li, et al.
Publicado: (2017)

Amelioration of Hypertriglyceridemia with Hypo-Alpha-Cholesterolemia in LPL Deficient Mice by Hematopoietic Cell-Derived LPL
por: Ding, Yinyuan, et al.
Publicado: (2011)

Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency
por: Li, Yakun, et al.
Publicado: (2022)

Resequencing of LPL in African Blacks and associations with lipoprotein–lipid levels
por: Pirim, Dilek, et al.
Publicado: (2015)

Lipoprotein Lipase (LPL) is Associated with Neurite Pathology and Its Levels Are Markedly Reduced in the Dentate Gyrus of Alzheimer’s Disease Brains
por: Gong, Huilin, et al.
Publicado: (2013)

The D9N, N291S and S447X variants in the lipoprotein lipase (LPL) gene are not associated with Type III Hyperlipidemia
por: Evans, David, et al.
Publicado: (2007)

The HindIII and PvuII polymorphisms of lipoprotein lipase (LPL) gene reduce the risk of ischemic stroke (IS): A meta-analysis
por: Cao, Limei, et al.
Publicado: (2018)

Efficacy and long term safety of alipogene tiparvovec (AAV1-LPL(S447X)) gene therapy for lipoprotein lipase deficiency: an open label trial
por: Gaudet, Daniel, et al.
Publicado: (2012)

Expression Levels of GABA-A Receptor Subunit Alpha 3, Gabra3 and Lipoprotein Lipase, Lpl Are Associated with the Susceptibility to Acetaminophen-Induced Hepatotoxicity
por: Kim, Minjeong, et al.
Publicado: (2017)

Purification and Characterization of Plantaricin LPL-1, a Novel Class IIa Bacteriocin Produced by Lactobacillus plantarum LPL-1 Isolated From Fermented Fish
por: Wang, Yao, et al.
Publicado: (2018)

Lipoprotein size is a main determinant for the rate of hydrolysis by exogenous LPL in human plasma
por: Kovrov, Oleg, et al.
Publicado: (2021)

Effects of Glycyrrhizic Acid on Peroxisome Proliferator-Activated Receptor Gamma (PPARγ), Lipoprotein Lipase (LPL), Serum Lipid and HOMA-IR in Rats
por: Yoke Yin, Chia, et al.
Publicado: (2010)

CETP/LPL/LIPC gene polymorphisms and susceptibility to age-related macular degeneration
por: Wang, Ya-Feng, et al.
Publicado: (2015)

Staphylococcus aureus Lpl Lipoproteins Delay G2/M Phase Transition in HeLa Cells
por: Nguyen, Minh-Thu, et al.
Publicado: (2016)

Simple and rapid real-time monitoring of LPL activity in vitro
por: Kluge, Stefan, et al.
Publicado: (2020)

Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis
por: Han, Peng, et al.
Publicado: (2020)

Insulin Sensitivity Is Associated with Lipoprotein Lipase (LPL) and Catenin Delta 2 (CTNND2) DNA Methylation in Peripheral White Blood Cells in Non-Diabetic Young Women
por: Arpón, Ana, et al.
Publicado: (2019)

Skeletal muscle damage and impaired regeneration due to LPL-mediated lipotoxicity
por: Tamilarasan, K P, et al.
Publicado: (2012)

Primary Isolated Lymphoplasmacytic Lymphoma (LPL) of the Stomach: A Case Report
por: Attallah, Hany S., et al.
Publicado: (2020)

Genetic association of LPL rs326 with BMI among the Kuwaiti population
por: Malek, Sara H., et al.
Publicado: (2021)

Apolipoprotein E content of VLDL limits LPL-mediated triglyceride hydrolysis
por: Whitacre, Brynne E., et al.
Publicado: (2021)

Polymorphism rs10105606 of LPL as a Novel Risk Factor for Microalbuminuria
por: Lim, Zhu Wei, et al.
Publicado: (2021)

ANGPTL4/8 promotes plasmin-mediated cleavage of LPL inhibitors
por: Kersten, Sander
Publicado: (2023)

Loss-of-Function Homozygous Variant in LPL Causes Type I Hyperlipoproteinemia and Renal Lipidosis
por: Wu, Hongyan, et al.
Publicado: (2023)

Triglyceride Rich Lipoprotein -LPL-VLDL Receptor and Lp(a)-VLDL Receptor Pathways for Macrophage Foam Cell Formation
por: Takahashi, Sadao
Publicado: (2017)

Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing
por: Liu, Ying, et al.
Publicado: (2020)

Sex-associated effect of CETP and LPL polymorphisms on postprandial lipids in familial hypercholesterolaemia
por: Anagnostopoulou, Katherine K, et al.
Publicado: (2009)

Fasting induces ANGPTL4 and reduces LPL activity in human adipose tissue
por: Ruppert, Philip M.M., et al.
Publicado: (2020)

APOE, CETP and LPL genes show strong association with lipid levels in Greek children()
por: Smart, M.C., et al.
Publicado: (2010)

Phospholipase Lpl1 links lipid droplet function with quality control protein degradation
por: Weisshaar, Nina, et al.
Publicado: (2017)

Genetic association of LPL rs1121923 and rs258 with plasma TG and VLDL levels
por: Al-Bustan, Suzanne A., et al.
Publicado: (2019)

Landscape of immunoglobulin heavy chain gene repertoire and its clinical relevance to LPL/WM
por: Wang, Jun, et al.
Publicado: (2022)

Genetic Variants in PHACTR1 & LPL Mediate Restenosis Risk in Coronary Artery Patients
por: Al Hageh, Cynthia, et al.
Publicado: (2023)

The νSaα Specific Lipoprotein Like Cluster (lpl) of S. aureus USA300 Contributes to Immune Stimulation and Invasion in Human Cells
por: Nguyen, Minh Thu, et al.
Publicado: (2015)

Correction: The νSaα Specific Lipoprotein Like Cluster (lpl) of S. aureus USA300 Contributes to Immune Stimulation and Invasion in Human Cells
por: Nguyen, Minh Thu, et al.
Publicado: (2015)

LPL gene Pvu II polymorphism and hypertriglyceridemia: a meta-analysis involving 1,640 subjects
por: Li, Yan-yan, et al.
Publicado: (2017)

Reduced LPL and subcutaneous lipid storage capacity are associated with metabolic syndrome in postmenopausal women with obesity
por: Serra, M. C., et al.
Publicado: (2016)

Association of Metabolic Syndrome with Aerobic Exercise and LPL rs3779788 Polymorphism in Taiwan Biobank Individuals
por: Hsu, Chun-Sheng, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_8ks58gglnuuskolva0m3lhjsur