☆ 4.6 Meeting Abstract

VARIANTS IN SIGNAL TRANSDUCING ADAPTOR FAMILY MEMBER 1 (STAP1) DO NOT AFFECT LDL-CHOLESTEROL

ATHEROSCLEROSIS (2019)

Journal

ATHEROSCLEROSIS

Volume 287, Issue -, Pages E79-E79

Publisher

ELSEVIER IRELAND LTD

DOI: 10.1016/j.atherosclerosis.2019.06.229

Keywords

-

Categories

Cardiac & Cardiovascular Systems Peripheral Vascular Disease

Ask authors/readers for more resources

Protocol

Community support

Reagent

Community support

Authors

I am an author on this paper

Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.6

Not enough ratings

Secondary Ratings

Novelty

-

Significance

-

Scientific rigor

-

Rate this paper

Recommended

Review Biochemistry & Molecular Biology

The Functional Properties and Physiological Roles of Signal-Transducing Adaptor Protein-2 in the Pathogenesis of Inflammatory and Immune Disorders

Jun-ichi Kashiwakura, Kenji Oritani, Tadashi Matsuda

Summary: Adaptor molecules play a crucial role in signal transduction in immune cells and are potential therapeutic targets for T cell-mediated immune disorders. STAP-2, a member of the STAP family, is involved in T cell activation and autoimmune diseases. Understanding the impact of STAP-2 on T cell-mediated inflammation and immune diseases can aid in the development of novel therapeutic strategies.

BIOMEDICINES (2022)

Add to Collection

Article Biochemistry & Molecular Biology

Signal-transducing adaptor protein-2 has a nonredundant role for IL-33-triggered mast cell activation

Jun-ichi Kashiwakura, Nao Koizumi, Kodai Saitoh, Kota Kagohashi, Yuto Sasaki, Fuki Kobayashi, Shoya Kawahara, Yukie Yamauchi, Yuichi Kitai, Ryuta Muromoto, Kenji Oritani, Tadashi Matsuda

Summary: STAP-2 is an essential adaptor protein involved in regulating mast cell activation, particularly in response to IL-33 stimulation. Its deficiency leads to decreased cytokine production and impaired TLR4-mediated mast cell activation. The direct binding of STAP-2 to IKKα enhances NF-kappa B activity, contributing to the activation of mast cells.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2021)

Add to Collection

Article Parasitology

Investigating how clathrin adaptor complex AP-2 participates in Giardia lamblia encystation

Constanza Feliziani, Maria R. Rivero, Gonzalo Quassollo, Andrea S. Ropolo, Maria C. Touz

Summary: This study describes the involvement of receptor-mediated endocytosis (RME) in the cell differentiation process of Giardia lamblia. Inhibition of the medium subunit Gl mu 2 of the giardial adaptin protein GlAP2 impaired RME and triggered the process of encystation in growing cells. However, blocking RME only induced cell differentiation without completing the encystation process. Furthermore, the giardial adaptin protein GlAP2 was found to be necessary for the final steps of encystation by sorting the cyst wall protein CWP1 to the plasma membrane for cyst wall formation.

INTERNATIONAL JOURNAL FOR PARASITOLOGY (2022)

Add to Collection

Article Genetics & Heredity

Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia

Hayato Tada, Nobuko Kojima, Kan Yamagami, Akihiro Nomura, Atsushi Nohara, Soichiro Usui, Kenji Sakata, Noboru Fujino, Masayuki Takamura, Masa-Aki Kawashiri

Summary: This study retrospectively investigated the associations between genotypes and phenotypes in patients with familial hypercholesterolemia (FH). The results showed that pathogenic variants, especially protein-truncating variants (PTVs), are significantly associated with poor outcomes in FH patients.

FRONTIERS IN GENETICS (2022)

Add to Collection

Article Hematology

Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank-Brief Report

Jasmine Gratton, Steve E. Humphries, Marta Futema

Summary: This study estimated the prevalence of FH in a population-based cohort in the United Kingdom. The prevalence of FH-causing variants was found to be similar across the analyzed ancestry groups, despite overall differences in lipid concentrations. Improvement in the proportion of FH-variant carriers receiving lipid-lowering therapy is needed in all ancestry groups to reduce the future risk of premature coronary heart disease.

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2023)

Add to Collection

Article Immunology

Lowering blood cholesterol does not affect neuroinflammation in experimental autoimmune encephalomyelitis

Solenne Vigne, Donovan Duc, Benjamin Peter, Jessica Rebeaud, Yannick Yersin, Florian Ruiz, Valentine Bressoud, Tinh-Hai Collet, Caroline Pot

Summary: This study investigated the effect of circulating cholesterol levels on multiple sclerosis (MS) using a mouse model. The results showed that blood cholesterol level does not have a direct role in neuro-inflammatory diseases, and the protective effects of statins in MS are not related to circulating cholesterol.

JOURNAL OF NEUROINFLAMMATION (2022)

Add to Collection

Article Pharmacology & Pharmacy

Pivotal Role of Signal-Transducing Adaptor Protein-2 in Pathogenesis of Autoimmune Hepatitis

Yuto Sasaki, Kodai Saitoh, Kota Kagohashi, Yuichi Kitai, Ryuta Muromoto, Kenji Oritani, Jun-Ichi Kashiwakura, Tadashi Matsuda

Summary: The study found that STAP-2 plays a significant role in the pathogenesis of autoimmune hepatitis by regulating the expression of FasL and the production of IFN-gamma, leading to increased liver necrosis and lymphocyte infiltration in STAP-2 KO mice compared to WT mice after ConA injection.

BIOLOGICAL & PHARMACEUTICAL BULLETIN (2021)

Add to Collection

Article Biochemistry & Molecular Biology

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia

Weila Dong, Karen H. Y. Wong, Youbin Liu, Michal Levy-Sakin, Wei-Chien Hung, Mo Li, Boyang Li, Sheng Chih Jin, Jungmin Choi, Francesc Lopez-Giraldez, Dedeepya Vaka, Annie Poon, Catherine Chu, Richard Lao, Melek Balamir, Irina Movsesyan, Mary J. Malloy, Hongyu Zhao, Pui-Yan Kwok, John P. Kane, Richard P. Lifton, Clive R. Pullinger

Summary: Low levels of HDL-C are associated with increased risk of arteriosclerotic coronary heart disease, and this study found damaging rare variants in the ABCA1 and LDLR genes to be particularly high in individuals with low HDL-C. Numerous damaging variants were also identified in other HDL candidate genes, suggesting a potential new area of interest in HDL genomics.

JOURNAL OF LIPID RESEARCH (2022)

Add to Collection

Article Nutrition & Dietetics

Genosets for APOE and CYP7A1-rs3808607 variants do not predict LDL cholesterol lowering upon intervention with plant sterols in a randomized, double-blind, placebo-controlled trial

Matthew J. Granger, Peter K. Eck, Itzel Vazquez-Vidal, Maryam Shamloo, James D. House, Dylan S. Mackay

Summary: The GenePredict Plant Sterol study aimed to validate the associations of LDL cholesterol lowering with specific APOE and CYP7A1 genosets through a priori recruitment, but the recruitment target could not be reached. Despite the shortfall, reductions in LDL cholesterol were similar across all genosets, indicating that the trial's objective may still have been met. In conclusion, APOE and CYP7A1 genotypes did not influence the effectiveness of LDL cholesterol reductions through dietary intervention with plant sterols, and it is challenging to obtain adequate numbers of participants in trials using genoset-based recruitment.

AMERICAN JOURNAL OF CLINICAL NUTRITION (2022)

Add to Collection

Article Biochemical Research Methods

Do Nanodisc Assembly Conditions Affect Natural Lipid Uptake?

Melanie T. Odenkirk, Guozhi Zhang, Michael T. Marty

Summary: Lipids play important roles in membrane protein structure, interactions, and activity. Nanodiscs are a suitable model for studying protein-lipid interactions in a lipid bilayer. This study investigated how nanodisc assembly conditions affect the lipid profile. The results suggest that while most lipids are unaffected, some changes occurred in specific lipid classes under certain assembly conditions.

JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY (2023)

Add to Collection

Article Biochemistry & Molecular Biology

A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants

Kepa B. Uribe, Kevin Chemello, Asier Larrea-Sebal, Asier Benito-Vicente, Unai Galicia-Garcia, Steeve Bourane, Ali K. Jaafar, Gilles Lambert, Cesar Martin

Summary: Research shows that GOF mutations of the PCS9 gene lead to familial hypercholesterolemia, while LOF mutations are associated with reduced cholesterol levels. By studying the effects of different PCS9 variants on LDLR expression and affinity through transient transfections of HEK293 and HepG2 cells, it is possible to reliably determine their GOF or LOF status.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Add to Collection

Article Reproductive Biology

Goat SMAD family member 1 (SMAD1): mRNA expression, genetic variants, and their associations with litter size

Dwi Wijayanti, Sihuan Zhang, Yuta Yang, Yangyang Bai, Zhanerke Akhatayeva, Chuanying Pan, Haijing Zhu, Lei Qu, Xianyong Lan

Summary: This study found that the expression of the SMAD1 gene in Shaanbei white cashmere goats is significantly associated with litter size. Specifically, the mRNA expression level of SMAD1 in the ovaries of multi-lamb mothers is significantly higher than that of single-lamb mothers. In addition, two InDel loci (18-bp and 7-bp) within the SMAD1 gene are also significantly correlated with litter size.

THERIOGENOLOGY (2022)

Add to Collection

Article Cardiac & Cardiovascular Systems

Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing

Greta Marie Pohl, Manuel Goez, Anna Gaertner, Andreas Brodehl, Tolga Cimen, Ardan M. Saguner, Eric Schulze-Bahr, Volker Walhorn, Dario Anselmetti, Hendrik Milting

Summary: In this study, we found that several variants at specific positions in the prodomain of cardiac desmosomal cadherins can influence intracellular transport. However, some commonly listed variants in genetic databases do not affect intracellular transport. These prodomain variants may be relevant in the context of arrhythmogenic cardiomyopathy.

FRONTIERS IN CARDIOVASCULAR MEDICINE (2023)

Add to Collection

Article Environmental Studies

Do Social Pension and Family Support Affect Farmers' Land Transfer? Evidence from China

Zuojuan Li, Guofeng Li, Ke Zhang, Jingxin Zhu

Summary: The study explores the effects of social pension and family support on farmers' land transfer in China. The results show that social pension has a negative impact on rent-out land but a positive impact on rent-in land, while family support has a positive impact on rent-out land but a negative impact on rent-in land. Agricultural labor time plays a mediating role in these effects.

LAND (2022)

Add to Collection

Article Business, Finance

Do related party transactions affect family firm valuations?

Mark Kohlbeck, Hye Seung (Grace) Lee, Brian Mayhew, Jesus M. M. Salas

Summary: This study examines the likelihood and value relevance of related party transactions in family firms. The findings show that founder-led family firms are more likely to engage in related party transactions and that the disclosure of these transactions reduces the valuation premium of these firms, especially for opportunistic transactions. Furthermore, the study finds that changes in the related party transaction reporting regulations in 2006 led to a decrease in the number of value-decreasing related party transactions for founder-led family firms and mitigated the detrimental effect of these transactions on firm valuation.

JOURNAL OF BUSINESS FINANCE & ACCOUNTING (2023)

Add to Collection

Editorial Material Cardiac & Cardiovascular Systems

PCSK9 as predictor for recurrent cardiovascular disease in familial hypercholesterolemia

Laurens F. Reeskamp, Tycho R. Tromp, G. Kees Hovingh

EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY (2021)

Add to Collection

Article Hematology

ANGPTL3 Inhibition With Evinacumab Results in Faster Clearance of IDL and LDL apoB in Patients With Homozygous Familial Hypercholesterolemia-Brief Report

Laurens F. Reeskamp, John S. Millar, Liya Wu, Hans Jansen, Dewi van Harskamp, Henk Schierbeek, Daniel A. Gipe, Daniel J. Rader, Geesje M. Dallinga-Thie, G. Kees Hovingh, Marina Cuchel

Summary: The study found that treatment with evinacumab is associated with an increase in the fractional catabolic rate of apoB-containing lipoproteins, suggesting that it lowers LDL-cholesterol mainly through increased clearance of these lipoproteins.

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2021)

Add to Collection

Article Cardiac & Cardiovascular Systems

Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia

Laurens F. Reeskamp, Manon Balvers, Jorge Peter, Laura van de Kerkhof, Lisette N. Klaaijsen, Mahdi M. Motazacker, Aldo Grefhorst, Natal A. W. van Riel, G. Kees Hovingh, Joep C. Defesche, Linda Zuurbier

Summary: In this study, researchers investigated whether variants in intronic regions of LDLR contribute to familial hypercholesterolemia (FH) by affecting pre-mRNA splicing. They identified a deep intronic variant that was found to be causal for FH, indicating the importance of considering intronic regions in sequencing FH patients for accurate diagnosis and treatment.

ATHEROSCLEROSIS (2021)

Add to Collection

Article Medicine, General & Internal

Cardiovascular risk factors and COVID-19 outcomes in hospitalised patients: a prospective cohort study

Didier Collard, Nick S. Nurmohamed, Yannick Kaiser, Laurens F. Reeskamp, Tom Dormans, Hazra Moeniralam, Suat Simsek, Renee Douma, Annet Eerens, Auke C. Reidinga, Paul W. G. Elbers, Martijn Beudel, Liffert Vogt, Erik S. G. Stroes, Bert-Jan H. van den Born

Summary: Recent studies have shown a correlation between hypertension, dyslipidaemia, and diabetes in COVID-19 patients, leading to an increased risk of short-term mortality independent of age and sex. Further research is needed to understand how these risk factors impact COVID-19 patients differently.

BMJ OPEN (2021)

Add to Collection

Article Cardiac & Cardiovascular Systems

From evidence to practice: development of web-based Dutch lipid reference values

N. S. Nurmohamed, D. Collard, J. W. Balder, J. A. Kuivenhoven, E. S. G. Stroes, L. F. Reeskamp

Summary: This study translated big-cohort lipid data into accessible reference values for use in clinical practice, aiming to screen for dyslipidaemias and reduce underuse of lipid-lowering therapy in Dutch primary prevention. It showcases the potential of modern digital techniques in making big-cohort study data easily accessible and hints at the upcoming digital health revolution.

NETHERLANDS HEART JOURNAL (2021)

Add to Collection

Article Biochemistry & Molecular Biology

Analysis and Optimization of Conditions for the Use of 2′,7′-Dichlorofluorescein Diacetate in Cultured Hepatocytes

Megan J. Reiniers, Lianne R. de Haan, Laurens F. Reeskamp, Mans Broekgaarden, Rowan F. van Golen, Michal Heger

Summary: The use of DCFH2-DA as a redox probe in liver cell lines poses challenges due to interference from membrane transport proteins, but can be utilized for real-time measurement of oxidative stress under optimized experimental conditions. DCFH2-DA and DCF are rapidly taken up by hepatocytes, with poor retention of DCF and cell type-specific oxidation kinetics of DCFH2 observed.

ANTIOXIDANTS (2021)

Add to Collection

Article Cardiac & Cardiovascular Systems

Marked plaque regression in homozygous familial hypercholesterolemia

Laurens F. Reeskamp, Nick S. Nurmohamed, Michiel J. Bom, R. Nils Planken, Roel S. Driessen, Pepijn A. van Diemen, Ilse K. Luirink, Jaap W. Groothoff, Irene M. Kuipers, Paul Knaapen, Erik S. G. Stroes, Albert Wiegman, G. Kees Hovingh

Summary: This study assessed the effectiveness of intensive lipid-lowering therapy in two adolescent patients with homozygous familial hypercholesterolemia (HoFH) through coronary computed tomography angiography (CCTA). The results showed a significant reduction in atherosclerotic plaque volume after 6 months of treatment, indicating the potential for plaque regression in young HoFH patients.

ATHEROSCLEROSIS (2021)

Add to Collection

Letter Hematology

Letter by Tromp et al Regarding Article, Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland

Tycho R. Tromp, G. Kees Hovingh, Laurens F. Reeskamp

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2022)

Add to Collection

Editorial Material Cardiac & Cardiovascular Systems

Combination lipid-lowering therapy as first-line strategy in very high-risk patients

Kausik K. Ray, Laurens F. Reeskamp, Ulrich Laufs, Maciej Banach, Francois Mach, Lale S. Tokgozoglu, Derek L. Connolly, Anja J. Gerrits, Erik S. G. Stroes, Luis Masana, John J. P. Kastelein

EUROPEAN HEART JOURNAL (2022)

Add to Collection

Article Biochemistry & Molecular Biology

Experimental Conditions That Influence the Utility of 2′7′-Dichlorodihydrofluorescein Diacetate (DCFH2-DA) as a Fluorogenic Biosensor for Mitochondrial Redox Status

Lianne R. de Haan, Megan J. Reiniers, Laurens F. Reeskamp, Ali Belkouz, Lei Ao, Shuqun Cheng, Baoyue Ding, Rowan F. van Golen, Michal Heger

Summary: This study analyzed the influence of ancillary factors on the formation of DCF using DCFH2-DA in the context of ETC inhibitors. The results showed that the type of culture medium, pH of the assay system, presence of fetal calf serum, and DCFH2-DA solvent concentration affect the formation of DCF. Hence, proper controls should be included in experiments using DCFH2-DA.

ANTIOXIDANTS (2022)

Add to Collection

Article Cardiac & Cardiovascular Systems

ANGPTL3 (Angiopoietin-Like 3) Preferentially Resides on High-Density Lipoprotein in the Human Circulation, Affecting Its Activity

Jordan M. Kraaijenhof, Tycho R. Tromp, Nick S. Nurmohamed, Laurens F. Reeskamp, Marije Langenkamp, Johannes H. M. Levels, S. Matthijs Boekholdt, Nicholas J. Wareham, Menno Hoekstra, Erik S. G. Stroes, G. Kees Hovingh, Aldo Grefhorst

Summary: The study found that while ANGPTL3 predominantly resides on HDL, its activity is highest when bound to LDL particles.

JOURNAL OF THE AMERICAN HEART ASSOCIATION (2023)

Add to Collection

Meeting Abstract Cardiac & Cardiovascular Systems

EVINACUMAB MARKEDLY REDUCES LOW-DENSITY LIPOPROTEIN CHOLESTEROL IN ADOLESCENT PATIENTS WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

L. F. Reeskamp, S. Greber-Platzer, S. Saheb, C. Stefanutti, E. S. G. Stroes, S. Ali, P. Banerjee, R. Pordy, J. Zhao, F. J. Raal

ATHEROSCLEROSIS (2021)

Add to Collection

Article Cardiac & Cardiovascular Systems

Next-generation sequencing to confirm clinical familial hypercholesterolemia

Laurens F. Reeskamp, Tycho R. Tromp, Joep C. Defesche, Aldo Grefhorst, Erik S. G. Stroes, G. Kees Hovingh, Linda Zuurbier

Summary: In the Netherlands, 14.9% of suspected familial hypercholesterolemia patients were found to have a pathogenic variant in LDLR, APOB or PCSK9, and this rate has decreased over the past two decades. The use of stringent clinical criteria algorithms is recommended to increase the yield of genetic testing. Variants in minor familial hypercholesterolemia genes may explain the phenotype in a small percentage of patients.

EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY (2021)

Add to Collection

Meeting Abstract Cardiac & Cardiovascular Systems

EVINACUMAB MARKEDLY REDUCES LOW-DENSITY LIPOPROTEIN CHOLESTEROL IN ADOLESCENT PATIENTS WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

Rens Reeskamp, Susanne Greber-Platzer, Samir Saheb, Claudia Stefanutti, Erik S. G. Stroes, Shazia Ali, Robert Pordy, Jian Zhao, Frederick J. Raal

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2021)

Add to Collection

Meeting Abstract Cardiac & Cardiovascular Systems

PLAQUE BURDEN IN TWO ADOLESCENTS WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA: TURNING BACK THE CLOCK WITH AGGRESSIVE LDL-C LOWERING

Nick Nurmohamed, Rens Reeskamp, Michiel Bom, Nils Planken, Roel Driessen, Pepijn van Diemen, Irene Kuipers, Albert Wiegman, G. Kees Hovingh

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2021)

Add to Collection

No Data Available

© Peeref 2019-2024. All rights reserved.