NEW STRATEGIES FOR THE EARLY DIAGNOSIS, RISK STRATIFICATION AND CO-MANAGEMENT OF FAMILIAL HYPERCHOLESTEROLEMIA

Informazioni relative al progetto

FH-EARLY

ID dell’accordo di sovvenzione: 101155885

DOI

10.3030/101155885

Data della firma CE 30 Novembre 2024

Data di avvio 1 Gennaio 2025

Data di completamento 31 Dicembre 2028

Finanziato da

• Health

Costo totale

Nessun dato

Contributo UE

€ 7 286 252,25

Coordinato da

Associação para Investigação e Desenvolvimento da Faculdade de Medicina
Portugal

CORDIS fornisce collegamenti ai risultati finali pubblici e alle pubblicazioni dei progetti ORIZZONTE.

I link ai risultati e alle pubblicazioni dei progetti del 7° PQ, così come i link ad alcuni tipi di risultati specifici come dataset e software, sono recuperati dinamicamente da .OpenAIRE .

Pubblicazioni

Conference proceedings (8)

EFFECT OF HIGH INTENSITY STATIN MEDICATION ON CIRCULATING FOAMY MONOCYTES IN HEALTHY INDIVIDUALS

Autori: Siina Pamilo, Iris Lähdeniemi, Anssi Mykkänen, Marc Sunden, Mikko Neuvonen, Tamara Alagirova, Mikko Niemi, Simon Pfisterer
Pubblicato in: Atherosclerosis
Editore: Elsevier

PO99 Re-classification of LDLR Variants through High-Throughput Functional Characterisation: Advancing Diagnosis in Familial Hypercholesterolaemia

Autori: Mohammad Majharul Islam, Ana Catarina Alves, Simon Pfisterer, Mafalda Bourbon
Pubblicato in: European Journal of Preventive Cardiology, 2026
Editore: European Journal of Preventive Cardiology

EXPANSION OF IN-DEPTH FUNCTIONAL CHARACTERIZATION OF LDLR GENE VARIANTS AND IMPLICATIONS FOR CARDIOVASCULAR RISK ASSESSMENT

Autori: Zohreh Pourkarami, Faezeh Saaeyekta, Mohammad Islam, Joana Chora, Secil Beyraktar, Sofia Zeferino, Mafalda Bourbon, Simon Pfisterer, Ana Catarina Alves
Pubblicato in: Atherosclerosis
Editore: Elsevier

CHARACTERIZATION OF LIPID DROPLETS AND INFLAMMATION IN FOAMY MONOCYTES IN SEVERE HYPERTRIGLYCERIDEMIA

Autori: Jing Xiao, Veronica O’Brien, Benjamin Litchfield, Feng Gao, Xueying Peng, Zeqin Lian, Arsalan Hamid, Chao Cheng, Yanming Li, Ying H Shen, Xinchun Pi, Tamara main Alagirova, Christie M Ballantyne, Simon Pfisterer, Huaizhu Wu
Pubblicato in: Journal of the American College of Cardiology, 2025
Editore: Elsevier

c-Rel–Mediated Lipid Accumulation and Inflammatory Activation in Monocytes in Hypertriglyceridemia

Autori: Jing Xiao, Veronica OBrien, Benjamin Litchfield, Feng Gao, Arsalan Hamid, Cheng Chao, Yanming Li, Ying Shen, Xinchun Pi, Tamara Alagirova, Iris Lahdeniemi, Ron Hoogeveen, Christie Ballantyne, Simon Pfisterer, Huaizhu Wu
Pubblicato in: Circulation, 2025
Editore: Lippincott Williams & Wilkins

UTILIZATION OF FUNCTIONAL DATA FOR LDLR VARIANT CLASSIFICATION: COMPARATIVE INSIGHTS FROM HIGH-CONTENT MICROSCOPY AND FLOW CYTOMETRY ASSAYS

Autori: Mohammad Islam, Ana Catarina Alves, Mafalda Bourbon, Simon Pfisterer
Pubblicato in: Atherosclerosis
Editore: Elsevier

Linking cellular lipid trafficking profiles of individuals to the outcomes of statin treatment in the general population

Autori: S Pfisterer, IH Hlushchenko, MMI Islam, MT Tamlander, SR Ripatti
Pubblicato in: European Heart Journal, 2025
Editore: Oxford University Press

A-231 A novel assay measuring leukocyte lipid uptake and storage for treatment optimization in dyslipidemia and cardiovascular risk assessment

Autori: Tamara Alagirova, Iryna Hlushchenko, Mohammad Majharul Islam, Max Tamlander, Samuli Ripatti, Tamara Alagirova, Simon Georg Pfisterer
Pubblicato in: Clinical chemistry, 2025
Editore: Oxford University Press

Other (2)

Lipoproteins modulate the uptake and biological function of cationic cell-penetrating peptides across the animal lineage

Autori: Sovanny R. Taylor, Temilade V. Oluwasesin, Muthu Raj Salaikumaran, Borna Novak, Adam Briner, Roshan Ailani, Pilar I. Andrade, Paulo L. Onuchic, Olivia M. S. Carmo, Garam Kim, Jacob A. Blum, Mason Galliver, Catherine Stuart, Nicolas Mendez, Vedant Patel, Guo-Teng Liang, Ronan O’Connell, Mohammad Majharul Islam, Zeinab Kashaniasl, Maria Jose Villar, Yingqiong Cao, Xi-Lei Zeng, Lucas Porta, Haoyun Yang, Gabe Hohensee, Misha Kavalur, Rachel N. Arey, Sarah E. Blutt, Ewan K. S. McRae, Radbod Darabi, Lilei Zhang, Kathryn Jones, Simon G. Pfisterer, Chad Johnston, Jeroen Pollet, Mirian A. F. Hayashi, Aaron D. Gitler, Hyun-Kyoung Lee, Alex S. Holehouse, Steven J. Ludtke, Steven Boeynaems
Pubblicato in: 2026
Editore: openRxiv
DOI: 10.64898/2026.08.23.746575

Functional data for <i>LDLR</i> variant classification: comparative insights from high-content microscopy and flow cytometry assays

Autori: Mohammad Majharul Islam, Ana Catarina Alves, Rafael Graça, Joana Rita Chora, Mafalda Bourbon, Simon G. Pfisterer
Pubblicato in: 2026
Editore: openRxiv
DOI: 10.64898/2026.05.09.26352817

Peer reviewed articles (2)

Update on genetics of familial hypercholesterolemia

Autori: Tomas Freiberger
Pubblicato in: Current Opinion in Lipidology, Numero 37, 2026, ISSN 0957-9672
Editore: Ovid Technologies (Wolters Kluwer Health)
DOI: 10.1097/MOL.0000000000001027

The functional landscape of coding variation in the familial hypercholesterolemia gene <i>LDLR</i>

Autori: Daniel R. Tabet, Atina G. Coté, Megan C. Lancaster, Jochen Weile, Ashyad Rayhan, Iosifina Fotiadou, Nishka Kishore, Roujia Li, Da Kuang, Jennifer J. Knapp, Carmela S. Carrero, Olivia Taverniti, Anna Axakova, Jack M. P. Castelli, Mohammad M. Islam, Shahin Sowlati-Hashjin, Aanshi Gandhi, Ranim Maaieh, Michael Garton, Kenneth Matreyek, Douglas M. Fowler, Mafalda Bourbon, Simon G. Pfisterer, Andrew M. Glazer, Brett M. Kroncke, Victoria N. Parikh, Euan A. Ashley, Joshua W. Knowles, Melina Claussnitzer, Elizabeth T. Cirulli, Robert A. Hegele, Dan M. Roden, Calum A. MacRae, Frederick P. Roth
Pubblicato in: Science, Numero 391, 2025, ISSN 0036-8075
Editore: American Association for the Advancement of Science (AAAS)
DOI: 10.1126/SCIENCE.ADY7186