Research Goal
We are an interdisciplinary research group combining biophysical, cell biology, biochemistry and molecular biology methodologies. Two are our main research focuses are:
- The study of the molecular mechanisms that underlie protein-protein and protein-membrane interactions, using bacterial toxins as a model system, in particular, the adenylate cyclase toxins, which are essential virulence factors produced by different bacterial pathogens (e.g. Bordetella pertussis, Escherichia coli).
- Understanding the molecular mechanism that leads to genetic/hereditary hypercholesterolemia and cardiovascular disease. We do translational research by assessing pathogenic variants of LDLR, ApoB-100 and PCSK9 to provide a certain genetic diagnosis of the disease.
Publications
-
The Ligand Preference of LRP1 is Regulated by O-glycans
Sci Adv. 2026 Jun 5;12(23):eadx9875. DOI: 10.1126/sciadv.adx9875. -
E2F2 transcription factor promotes a cholestatic MASH phenotype by regulating hepatobiliary metabolism through miR-34a-5p
Hepatology. 2026 May 1;83(5):1231-1247 DOI: 10.1097/HEP.0000000000001461 -
Regulation of Cell Proliferation and Migration by Extracellular Phosphatidic Acid
Biomedicines. 2026 Mar 10;14(3):616. doi: 10.3390/biomedicines14030616 -
Sequencing and functional characterization of SCARB1 variants in subjects with extreme HDL cholesterol levels
Cell. 2026 Feb 19;189(4):1170-1184.e22. doi: 10.1016/j.cell.2025.11.038. Epub 2026 Jan 16. PMID: 41547355. -
Role of CNNM4 in the progression of cholangiocarcinoma: implications for ferroptosis and therapeutic potential
Gut. 2026 Jan 8;75(2):341-352. doi: 10.1136/gutjnl-2024-333255. PMID: 40764063. -
Modulatory effects of CNNM4 on Protein-L-Isoaspartyl-O-Methyltransferase repair function during Alcohol-Induced hepatic damage
Hepatology. 2024 Dec 6. doi: 10.1097/HEP.0000000000001156. Epub ahead of print. PMID: 39641635. -
Lentiviral Vectors: From Wild-Type Viruses to Efficient Multi-Functional Delivery Vectors
Int J Mol Sci. 2025 Sep 1;26(17):8497. doi: 10.3390/ijms26178497. PMID: 40943418; PMCID: PMC12429303. -
Role of Ceramide Kinase/C1P in the Regulation of Cell Growth and Survival
Int J Mol Sci. 2025 Aug 28;26(17):8374. doi: 10.3390/ijms26178374. PMID: 40943293; PMCID: PMC12429069. -
The critical roles of bioactive sphingolipids in inflammation
J Biol Chem. 2025 Aug;301(8):110475. doi: 10.1016/j.jbc.2025.110475. Epub 2025 Jul 11. PMID: 40653199; PMCID: PMC12340401. -
Membrane Interaction Characteristics of the RTX Toxins and the Cholesterol-Dependence of Their Cytolytic/Cytotoxic Activity
Int J Mol Sci. 2024 Mar 8;25(6):3131. doi: 10.3390/ijms25063131. PMID: 38542105; PMCID: PMC10970614. -
Genetic Analysis and Predictive Modeling of COVID-19 Severity in a Hospital-Based Patient Cohort
Biomolecules. 2025 Mar 10;15(3):393. doi: 10.3390/biom15030393. PMID: 40149929; PMCID: PMC11940120. -
OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues
Adv Sci (Weinh). 2024 Jan 23:e2305177. doi: 10.1002/advs.202305177. -
Cardiovascular Disease, Atherosclerosis and Familial Hypercholesterolemia: From Molecular Mechanisms Causing Pathogenicity to New Therapeutic Approaches
Int. J. Mol. Sci. 2023, 24(8), 7659; https://doi.org/10.3390/ijms24087659 -
Four Cholesterol-Recognition Motifs in the Pore-Forming and Translocation Domains of Adenylate Cyclase Toxin Are Essential for Invasion of Eukaryotic Cells and Lysis of Erythrocytes
Int. J. Mol. Sci. (2022), 23(15), 8703; doi.org/10.3390/ijms23158703 -
Boosting Cholesterol Efflux from Foam Cells by Sequential Administration of rHDL to Deliver MicroRNA and to Remove Cholesterol in a Triple-Cell Two-Dimensional Atherosclerosis Model
Small. Accepted Author Manuscript, (2022) doi: 10.1039/d1en00967b -
MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDL receptor Missense Variants
Atherosclerosis 331 (2021) e3, (2021) doi: 10.1016/j.atherosclerosis.2021.06.013 -
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR
Scientific reports, 10 (1), 1727. (2020) DOI: 10.1038/s41598-020-58734-9 (2020) -
The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9
Atherosclerosis 162-172. (2019) doi: 10.1016/j.atherosclerosis.2019.08.020. (2019) -
Membrane Permeabilization by Pore-Forming RTX Toxins: What Kind of Lesions Do These Toxins Form?
Toxins (Basel) 11(6). pii: E354. (2019) doi: 10.3390/toxins11060354. Review. (2019) -
Membrane Permeabilization by Bordetella Adenylate Cyclase Toxin Involves Pores of Tunable Size
Biomolecules. 9(5). pii: E183. doi: 10.3390/biom9050183 (2019) -
Irreversible versus repairable membrane poration: differences in permeabilization elicited by Bordetella Adenylate Cyclase Toxin and its hemolysin domain in macrophages
FEBS J. Article in press. doi: 10.1111/febs.15106. (2020) -
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
Arterioscler Thromb Vasc Biol. doi: 10.1161/ATVBAHA.119.313051. (2019) -
Characterization of the Intrinsic Phospholipase A1 Activity of Bordetella pertussis Adenylate Cyclase Toxin
Toxins (Basel) 10(12). pii: E514. doi: 10.3390/toxins10120514. (2018) -
p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro
Sci Rep. 8(1):16614. doi: 10.1038/s41598-018-34715-x (2018) -
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants
Int J Mol Sci 19, pii: E1676. doi: 10.3390/ijms19061676 (2018) -
Phospholipase A activity of adenylate cyclase toxin mediates translocation of its adenylate cyclase domain
Proc Natl Acad Sci U S A 114, E6784-E6793 doi: 10.1073/pnas.1701783114 (2017)