Genetic diseases of connective tissue: Marfan syndrome. PI: Gustavo Egea Guri


Marfan syndrome is a rare genetic disease of the connective tissue (1:5,000 people) that affects the cardiovascular (the ascending aorta and the heart), respiratory (alveoli), skeletal (muscle, long bones and ribs), and ocular (crystalline) systems. This syndrome is caused by mutations in the gene that codifies for fibrillin-1 (FBN1), which is an essential component of elastic fibers. The main critical clinical problem is the formation of aortic aneurysm (abnormal dilatation) that usually leads to the dissection and rupture of the vessel. It is crucial a correct diagnosis of the disease and do it on time, and to follow-up the appearance and progression of aneurysm to subject the aorta to reparatory surgery at due time. Nowadays, there are pharmacological therapies that help to slow-down the formation of the aneurysm, but unfortunately, they do not prevent it. In our lab, we assay alternative therapies using a murine model of the disease, as well as we investigate several physiopathological processes that seems to be involved in the progress of the disease: membrane trafficking of TGF-beta receptors, and TGF-beta signaling and mechano-transduction. At the same time, we are highly interested to know what is the impact of smoking, the physical exercise and sleep apneas in the formation/progression of the aortic aneurysm.

From left to right: Isaac Rodríguez, Cristina Arce, Laura Barberà, Gustavo Egea

Gustavo Egea Guri
Full professor and P.I. of group
934 021 909

Cristina Arce Recatalà
Postdoctoral researcher
934 021 912


Isaac Rodriguez Rovira

Predoctoral researcher
934 021 912

Angels Soler
Erasmus+ Student
934 021 912

Karo de Rucke
Erasmus+ Student
934 021 912


  • Impact of redox stress in the formation and progression of aortic aneurysm in Marfan syndrome
  • High-resolution histopathology of aortic aneurysm in Marfan syndrome: micro-CT and X-Ray tomography
  • Contribution of TGF-β endocytic trafficking in the aortic physiopathology in Marfan syndrome

  • Impacto fisiopatológico de un peptido anti-TGF-beta, del ejercicio físico y del humo de los cigarrillos en la formación del anaurisma aórtico en el síndrome de Marfan.


  • Apolinker P144: a potential anti-TGF-beta therapeutic tool to fight against aortic aneurysm in Marfan syndrome

National Marfan Foundation (NMF, USA)
PI: Gustavo Egea

  • Mechanotransduction and oxidative stress in vascular smooth muscle cells of syndromic aortic aneuryms: the paradigm of Marfan syndrome

MINECO SAF2015-64136-R
PI: Gustavo Egea

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Perrucci GL, Rurali E, Corlianò M, Balzo M, Piccoli M, Moschetta D, Pini A, Gaetano R, Antona C, Egea G, Fischer G, Malešević M, Alamanni F, Cogliati E, Paolin A, Pompilio G, Nigro P. Cyclophilin A/EMMPRIN Axis Is Involved in Pro-Fibrotic Processes Associated with Thoracic Aortic Aneurysm of Marfan Syndrome Patients. Cells. 2020 Jan 8;9 (1). pii: E154. doi: 10.3390/ cells9010154. PMID: 31936351

Francesc Jiménez-Altayó, Thayna Meirelles, Eva Crosas-Molist, M. Alba Sorolla, Darya Gorbenko del Blanco, Judit López-Luque, Aleksandra Mas-Stachurska, Ana-Maria Siegert, Fabio Bonorino, Laura Barberà, Carolina García, Enric Condom, Marta Sitges, Fernando Rodríguez-Pascual, Francisco Laurindo, Katrin Schröder, Joaquim Ros, Isabel Fabregat, and Gustavo Egea (2018). Redox stress in Marfan syndrome: dissecting the role of the NADPH oxidase NOX4 in aortic aneurysm. Free Radic Biol Med. 2018 Apr; 118:44-58. doi: 10.1016/ j.freeradbiomed. 2018.02.023. Epub 2018 Feb 20. PMID: 29471108

Anna-Maria Siegert, Gerardo García Díaz-Barriga, Anna Esteve-Codina, Darya Gorbenko del Blanco, Jordi Alberch, Simon Heath, María Galán and Gustavo Egea (2019). Impact of FBN1 3’UTR mutation in the aortic aneurysm in Marfan syndrome through an endoplasmic reticulum stress molecular mechanism. Biochim Biophys Acta Mol Basis Dis. 2019 Jan; 1865(1): 107-114. doi: 10.1016/ j.bbadis.2018. 10.029. Epub 2018 Oct 30. PMID: 30385411

Júlia López-Guimet, Lucía Peña Pérez, Robert S. Bradley, Patricia García-Canadilla, Catherine Disney, Hua Geng, Andrew J. Bodey6 Philip J. Withers, Bart Bijnens, Michael J. Sherratt, Gustavo Egea (2018). MicroCT imaging reveals differential micro-scale remodelling of the murine aorta in ageing and Marfan syndrome. Theranostics 2018; 8(21): 6038-6052. doi:10.7150/ thno.26598. ISSN: 1838-7640

Anna-Maria Siegert, Carla Serra-Peinado, Enric Gutiérrez-Martínez, Fernando Rodríguez-Pascual, Isabel Fabregat and Gustavo Egea (2018). Altered TGF-β endocytic trafficking contributes to the increased signaling in Marfan syndrome. Biochim Biophys Acta Mol Basis Dis. 2018 Feb; 1864(2): 554-562. doi: 10.1016/ j.bbadis.2017.11.015. Epub 2017 Nov 23. PMID: 29174139

Francesc Jimenez-Altayo, Anna-Maria Siegert, Fabio Bonorino, Thayna Meirelles, Laura Barbera, Ana Paula Dantas, Elisabet Vila, and Gustavo Egea (2017). Differences in the Thoracic Aorta by Region and Sex in a Murine Model of Marfan Syndrome. Front Physiol. 2017 Nov 15; 8:933. doi: 10.3389/ fphys.2017. 00933. eCollection 2017. PMID: 29187826

Aleksandra Mas-Stachurska; Anna-Maria Siegert; Monsterrat Batlle; Darya Gorbenko del Blanco; Thayna Meirelles; Carla Serra-Peinado; Bart Bijnens; Julio Baudin; Cira Rubies; Marta Sitges; Lluís Mont; Eduard Guasch, Gustavo Egea (2017). Cardiovascular benefits of moderate exercise training in Marfan syndrome: insights from an animal model. Journal of the American Heart Association Sep 25; 6(9). pii: e006438. doi: 10.1161/ JAHA.117.006438. PMID: 28947563

López-Guimet J, Andilla J, Loza-Alvarez P and Egea G. High resolution morphological approach to analyse elastic laminae injuries of the ascending aorta in a murine model of Marfan syndrome (2017). Scientific Reports 7(1):1505.

Leslie Matalonga, Miren Bravo, Carla Serra Peinado, Elisabeth García-Pelegrí, Olatz Ugarteburu1, Silvia Vidal1, Maria Llambrich, Ester Quintana, Pedro Fuster-Jorge, Maria Nieves Gonzalez-Bravo, Sergi Beltran, Joaquin Dopazo, Francisco Garcia-Garcia, François Foulquier, Gert Matthijs, Philippa Mills, Antonia Ribes, Gustavo Egea, Paz Briones, Frederic Tort1, Marisa Girós (2016).  Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Hum Mutat. 2017 Feb; 38(2): 148-151. doi: 10.1002/ humu. 23145. Epub 2016 Nov 26. PMID: 27862579

Serra-Peinado C, Sicart A., Llopis J and Egea G (2016). Actin filaments are involved in the functional coupling of Vo-V1 domains of vacuolar H-ATPase at the Golgi complex. Journal Biological Chemistry 291(14):7286-99. doi. org/10. 1074/ jbc.M115.675272

Moreno-Càceres, Joaquim; Mainez, Jèssica; Mayoral, Rafael; Martín-Sanz, Paloma; Egea, Gustavo; Fabrega Isabel (2016). Caveolin-1-dependent activation of the metalloprotease TACE/ADAM17 by TGF-β in hepatocytes requires activation of Src and the NADPH oxidase NOX1. FEBS J. 2016 Apr; 283(7): 1300-10. doi: 10.1111/ febs. 13669. Epub 2016 Feb 22. PMID: 26815118

Yara Onetti, Thayna Meirelles, Ana P Dantas, Katrin Schröder, Elisabet Vila, Gustavo Egea, Francesc Jiménez-Altayó (2016). NADPH oxidase 4 attenuates cerebral artery changes during the progression of Marfan syndrome. Am J Physiol Heart Circ Physiol. 2016 May 1; 310(9): H1081-90. doi: 10.1152/ ajpheart.00770.2015. Epub 2016 Mar 4. PMID: 26945079

Juan José Uriarte; Thayna Meirelles; Darya Gorbenko del Blanco; Paula Naomi Nonaka; Noelia Campillo; Elisabet Sarri; Daniel Navajas; Gustavo Egea; Ramon Farré (2016). Early impairment of lung mechanics in a murine model of Marfan syndrome. PLoS One. 2016 Mar 22; 11(3): e0152124. doi: 10.1371/ journal.pone.0152124. PMID: 27003297

Ruddi Rodríguez-García, Iván López-Montero, Michael Mell, Gustavo Egea, Nir S. Gov and Francisco Monroy (2015). Direct cytoskeleton forces cause membrane softening in red blood cells. Biophys J. 2015 Jun 16; 108(12): 2794-806. doi: 10.1016 /j.bpj.2015.05.005. PMID: 26083919

Busnadiego O., Gorbenko del Blanco, D, Habashi J.P., Calderon J.F., Sandoval P., Bedja D., Guinea-Viniegra J., López-Cabrera M., Forteza A., Dietz HC, Egea G*., Rodríguez-Pascual F* (2015). Elevated expression levels of lysyl oxidase protect against aortic aneurysm progression in Marfan syndrome mice. *equally contributed. J Mol Cell Cardiol. 2015 Aug; 85: 48-57. doi: 10.1016/ j.yjmcc. 2015.05.008. Epub 2015 May 16. PMID: 25988230

Cepeda EB; Tatjana Dediulia; Joan Fernando; Esther Bertran; Gustavo Egea; Estanislao Navarro; Isabel Fabregat (2015). Mechanisms regulating cell membrane localization of the chemokine receptor CXCR4 in human hepatocarcinoma cells. Biochemia and Biophysica Acta-Molecular and Cell Research Volume 1853, Issue 5, May 2015, Pages 1205-1218. 10.1016/ j.bbamcr. 2015.02.012.

Eva Crosas-Molist, Thayna Meirelles, Judit López-Luque, Carla Serra-Peinado, Javier Selva, Laia Caja, Darya Gorbenko del Blanco, Juan José Uriarte, Esther Bertran, Yolanda Mendizábal, Vanessa Hernández, Carolina García-Calero, Oscar Busnadiego, Enric Condom, David Toral, Manel Castellà, Alberto Forteza, Daniel Navajas, Elisabet Sarri, Fernando Rodríguez-Pascual, Harry D. Dietz, Isabel Fabregat, and Gustavo Egea (2015). Vascular smooth muscle phenotypic changes in patients with Marfan syndrome. Arterioscler Thromb Vasc Biol. 2015 Apr; 35(4): 960-72. doi: 10.1161/ ATVBAHA.114. 304412. Epub 2015 Jan 15. PMID: 25593132

Renata Kelly Palma, Ramon Farre, Josep María Montserrat, Daria Gorbenko Del Blanco, Gustavo Egea, Luís Vicente Franco de Oliveira, Daniel Navajas, Issac Almendros (2015). Increased Upper Airway Collapsibility in a Mouse Model of Marfan Syndrome. Respir Physiol Neurobiol. 2015 Feb 1;207: 58-60. doi: 10.1016/ j.resp. 2014.12.013. Epub 2014 Dec 23. PMID: 25541192

Prades R., Oller-Salvia, B., Scharzmaier S.M., Selva J., Moros M., Balbi M., Grazú, V., de la Fuente J.M., Egea G., Pilesnila N., Teixidó M., and Giralt, E. (2015). Applying the Retro‐Enantio Approach To Obtain a Peptide Capable of Overcoming the Blood–Brain Barrier. Angew Chem Int Ed Engl. 2015 Mar 23; 54(13): 3967-72. doi: 10.1002/ anie.201411408. Epub 2015 Feb 4. PMID: 25650865

Sicart A., Katan M., Egea G, Sarri E (2015). Phospholipase Cgamma 1 is involved in post-Golgi transport and DAG production triggered by cargo arrival at the Golgi complex. Traffic. 2015 Mar; 16(3): 250-66. doi: 10.1111/ tra.12246. Epub 2015 Jan 6. PMID: 25491205

Egea G, Serra-Peinado C, Gavilán M.P. and Rios RM (2015). Cytoskeleton and Golgi apparatus interactions: a two-way road on function and structure. Cell Heath and Cytoskeleton 7:37-54. 10.2147/ CHC.S57108.

Egea G and Serra-Peinado C (2014). Golgi apparatus”, finally mechanics comes to play in the secretory pathway. Curr Biol. 2014 Aug 18; 24(16): R741-3. doi: 10.1016/ j.cub. 2014.07.002. PMID: 25137584

Moreno-Càceres J, Laia Caja, Jèssica Mainez, Rafael Mayoral, Paloma Martín-Sanz, Roberto Moreno-Vicente, Miguel Ángel del Pozo, Steven Dooley, Gustavo Egea and Isabel Fabregat (2014). Caveolin-1 is required for TGF-β-induced transactivation of the EGF receptor pathway in hepatocytes through the activation of the metalloprotease TACE/ADAM17. Cell Death & Disease 2014 Jul 17;5:e1326. doi: 10.1038/cddis.2014.294. PMID: 25032849

López-Quesada, C., A.-S. Fontaine, A. Farre, I. Llop-Tous, M. Joseph, J. Selva, G. Egea, M.D. Ludevid, E. Martín-Badosa, M. Montes-Usategui (2014). Artificially-induced organelles are optimal targets for optical trapping experiments in living cells. Biomed Opt Express. 2014 Jul 1; 5(7): 1993–2008. doi: 10.1364/ BOE.5. 001993. PMID: 25071944

Egea G, C. Serra-Peinado, L. Salcedo-Sicilia and E. Gutiérrez-Martínez (2013). Actin acting at the Golgi. Histochem Cell Biol. 2013 Sep; 140(3): 347-60. doi: 10.1007/ s00418-013-1115-8. Epub 2013 Jun 27. PMID: 23807268

Esther Bertran; Eva Crosas-Molist; Patricia Sancho; Laia Caja; Judit Lopez-Luque; Estanislao Navarro; Gustavo Egea; Raquel Lastra; Teresa Serrano; Emilio Ramos; Isabel Fabregat (2013). Overactivation of the TGF-β pathway confers a mesenchymal-like phenotype and CXCR4-dependent migratory properties to liver tumor cells. Hepatology. 2013 Dec;58(6):2032-44. doi: 10.1002/hep.26597. Epub 2013 Oct 11. PMID: 23813475

Gutiérrez-Martínez E., I. Fernández-Ulibarri, F. Lázaro-Diéguez, E. Martínez-Alonso, S. Pyne, E. Sarri, and G. Egea (2013). Lipid phosphate phosphatase 3 participates in the transport carrier formation and protein trafficking in the early secretory pathway. J Cell Sci. 2013 Jun 15; 126(Pt 12): 2641-55. doi: 10.1242/ jcs.117705. Epub 2013 Apr 16. PMID: 23591818

Salcedo-Sicilia L., S. Granell, M. Jovic, A. Sicart, E. Mato, L. Johannes, T. Balla and G. Egea (2013). PI4P is a major determinant for the association of bIII spectrin to the Golgi complex. J Cell Biol. 1994 Nov;127(3):707-23. PMID: 7962054

Klionsky DJ….Egea G…et al (2012). Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy. 2016; 12(1): 1-222. doi: 10.1080/ 15548627.2015. 1100356. PMID: 26799652

Prades R., Guerrero S., Araya E, Molina C., Salas E., Zurita E., Selva J., Egea G., López-Iglesias C., Teixidó M., Kogan M.J. and Giralt E. (2012). Delivery of gold nanoparticles to the brain by conjugation with a peptide that recognizes the transferrin receptor. Biomaterials. 2012 Oct;33 (29): 7194-205. doi: 10. 1016/ j.biomaterials. 2012.06.063. Epub 2012 Jul 15. PMID: 22795856

Selva J. and G. Egea (2011). Ethanol increases p190RhoGAP activity, leading to actin cytoskeleton rearrangements. J Neurochem. 2011 Dec; 119(6): 1306-16. doi: 10.1111/ j.1471-4159. 2011.07522.x. Epub 2011 Nov 2. PMID: 21985251

Smith S.E., Granell S., Salcedo-Sicilia L., Baldini G., Egea G., Teckman J.H. and Baldini G (2011). ATF6 limits intracellular accumulation of mutant alpha-1-antitrypsin Z and mitochondrial damage in hepatoma cells. J Biol Chem. 2011 Dec 2; 286 (48): 41563-77. doi: 10.1074/ jbc. M111. 280073. Epub 2011 Oct 5. PMID: 21976666

Sarri E., Sicart A., Lázaro-Diéguez F. and G. Egea (2011). Phospholipid synthesis participates in the regulation of diacylglycerol required for membrane trafficking at the Golgi complex. J Biol Chem. 2011 Aug 12; 286 (32): 28632-43. doi: 10.1074/ jbc. M111. 267534. Epub 2011 Jun 23. PMID: 21700701

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