Neurometabolic diseases

Aurora Pujol Onofre

PRINCIPAL INVESTIGATORS
  • Stephane Fourcade
  • Carlos Casasnovas Pons
POSTDOCTORAL RESEARCHERS
  • Montserrat Ruiz Sales
  • Nathalie Launay
  • Agatha Schlüter Martin
  • Katrin Gisela Blondrath
PREDOCTORAL RESEARCHERS
  • Laura Planas Serra
  • Agustí Rodríguez-Palmero Seuma
  • Leire Goicoechea Barrenechea
  • Patricia Valentina Velez Santamaria
  • Lorenzo Torreni
  • Irene De La Calle Fuentes
SCIENTIFIC SUPPORT
  • Juan Jose Martinez Garcia
  • Cristina Guilera Zapater
  • Aina Roig Villalonga
Neuroscience
Neuroscience

Scientific production

19

PAPERS

Impact factor: 166, 958

11 PUBLICATIONS IN FIRST DECILE

16 PUBLICATIONS IN FIRST QUARTILE

15 PUBLICATIONS IN OPEN ACCESS

Selected publications

  • Garcia-Cazorla, Angels; Verdura, Edgard; Julia-Palacios, Natalia; Anderson, Eric N.; Goicoechea, Leire; Planas-Serra, Laura; Tsogtbaatar, Enkhtuul; Dsouza, Nikita R.; Schluter, Agatha; Urreizti, Roser; Tarnowski, Jessica M.; Gavrilova, Ralitza H.; Ruiz, Montserrat; Rodriguez-Palmero, Agusti; Fourcade, Stephane; Cogne, Benjamin; Besnard, Thomas; Vincent, Marie; Bezieau, Stephane; Folmes, Clifford D.; Zimmermann, Michael T.; Klee, Eric W.; Pandey, Udai Bhan; Artuch, Rafael; Cousin, Margot A.; Pujol, Aurora. Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome. ACTA NEUROPATHOLOGICA. 2020
  • Fourcade, Stephane; Goicoechea, Leire; Parameswaran, Janani; Schluter, Agatha; Launay, Nathalie; Ruiz, Montserrat; Seyer, Alexandre; Colsch, Benoit; Calingasan, Noel Ylagan; Ferrer, Isidre; Beal, M. Flint; Sedel, Frederic; Pujol, Aurora. High-dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy. BRAIN PATHOLOGY. 2020
  • Zhang, Qian; Bastard, Paul; Liu, Zhiyong; Le Pen, Jeremie; Moncada-Velez, Marcela; Chen, Jie; Ogishi, Masato; Sabli, Ira K. D.; Hodeib, Stephanie; Korol, Cecilia; Rosain, Jeremie; Bilguvar, Kaya; Ye, Junqiang; Bolze, Alexandre; Bigio, Benedetta; Yang, Rui; Arias, Andres Augusto; Zhou, Qinhua; Zhang, Yu; Onodi, Fanny; Korniotis, Sarantis; Karpf, Lea; Philippot, Quentin; Chbihi, Marwa; Bonnet-Madin, Lucie; Dorgham, Karim; Smith, Nikaia; Schneider, William M.; Razooky, Brandon S.; Hoffmann, Hans-Heinrich; Michailidis, Eleftherios; Moens, Leen; Han, Ji Eun; Lorenzo, Lazaro; Bizien, Lucy; Meade, Philip; Neehus, Anna-Lena; Ugurbil, Aileen Camille; Corneau, Aurelien; Kerner, Gaspard; Zhang, Peng; Rapaport, Franck; Seeleuthner, Yoann; Manry, Jeremy; Masson, Cecile; Schmitt, Yohann; Schlueter, Agatha; Le Voyer, Tom; Khan, Taushif; Li, Juan; Fellay, Jacques; Roussel, Lucie; Shahrooei, Mohammad; Alosaimi, Mohammed F.; Mansouri, Davood; Al-Saud, Haya; Al-Mulla, Fahd; Almourfi, Feras; Al-Muhsen, Saleh Zaid; Alsohime, Fahad; Al Turki, Saeed; Hasanato, Rana; van de Beek, Diederik; Biondi, Andrea; Bettini, Laura Rachele; D’Angio, Mariella; Bonfanti, Paolo; Imberti, Luisa; Sottini, Alessandra; Paghera, Simone; Quiros-Roldan, Eugenia; Rossi, Camillo; Oler, Andrew J.; Tompkins, Miranda F.; Alba, Camille; Vandernoot, Isabelle; Goffard, Jean-Christophe; Smits, Guillaume; Migeotte, Isabelle; Haerynck, Filomeen; Soler-Palacin, Pere; Martin-Nalda, Andrea; Colobran, Roger; Morange, Pierre-Emmanuel; Keles, Sevgi; Colkesen, Fatma; Ozcelik, Tayfun; Yasar, Kadriye Kart; Senoglu, Sevtap; Karabela, Semsi Nur; Rodriguez-Gallego, Carlos; Novelli, Giuseppe; Hraiech, Sami; Tandjaoui-Lambiotte, Yacine; Duval, Xavier; Laouenan, Cedric; Snow, Andrew L.; Dalgard, Clifton L.; Milner, Joshua D.; Vinh, Donald C.; Mogensen, Trine H.; Marr, Nico; Spaan, Andras N.; Boisson, Bertrand; Boisson-Dupuis, Stephanie; Bustamante, Jacinta; Puel, Anne; Ciancanelli, Michael J.; Meyts, Isabelle; Maniatis, Tom; Soumelis, Vassili; Amara, Ali; Nussenzweig, Michel; Garcia-Sastre, Adolfo; Krammer, Florian; Pujol, Aurora; Duffy, Darragh; Lifton, Richard P.; Zhang, Shen-Ying; Gorochov, Guy; Beziat, Vivien; Jouanguy, Emmanuelle; Sancho-Shimizu, Vanessa; Rice, Charles M.; Abel, Laurent; Notarangelo, Luigi D.; Cobat, Aurelie; Su, Helen C.; Casanova, Jean-Laurent. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. SCIENCE. 2020
  • Verdura, Edgard; Fons, Carme; Schluter, Agatha; Ruiz, Montserrat; Fourcade, Stephane; Casasnovas, Carlos; Castellano, Antonio; Pujol, Aurora. Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia. JOURNAL OF MEDICAL GENETICS. 2020
  • Coppa, Andrea; Guha, Sanjib; Fourcade, Stephane; Parameswaran, Janani; Ruiz, Montserrat; Moser, Ann B.; Schluter, Agatha; Murphy, Michael P.; Miguel Lizcano, Jose; Miranda-Vizuete, Antonio; Dalfo, Esther; Pujol, Aurora. The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy. FREE RADICAL BIOLOGY AND MEDICINE. 2020

Research highlights

PROJECTS

15 Competitive projects
8 Non competitive projects
25 clinical trials

PUBLISHED WORKS

1 thesis

INNOVATION

1 Patent

1 license

NETWORKS

CIBERER
COVIDHGE

Selected projects

  • Verdura E, Rodríguez Palmero A, Vélez Santamaria V, Planas Serra L, de la Calle I, Raspall Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O’Leary M, O’Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala Coromina J, Fossati C, Iascone M, Canonico F, Marcé Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez Solana L, Brusco A, Koenig M, Macaya A, Pujol A. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain. 2021;144(9):2659-2669. doi:10.1093/brain/awab124. IF:13,50.
  • Rodriguez Palmero A, Boerrigter MM, Gomez Andres D, Aldinger KA, Marcos Alcalde I, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogne B, Coubes C, de Man SA, Denomme Pichon AS, Dye TJ, Elmslie F, Feuk L, Garcia Minaur S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman Englert CR, Haukanes BI, Hoyer J, Hurst A, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Muuller AJ, O’Leary M, Pacio Miguez M, Palomares Bralo M, Parikh S, Pfundt R, Pode Shakked B, Rauch A, Repnikova E, Revah Politi A, Ross MJ, Ruivenkamp C, Sarrazin E, Savatt JM, Schluter A, Schonewolf Greulich B, Shad Z, Shaw Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau Them FT, van Bon B, van de Burgt I, van de Laar I, van Drie E, van Haelst MM, van Ravenswaaij Arts CM, Verdura E, Vitobello A, Waldmuller S, Whiting S, Zweier C, Prada CE, de Vries B, Dobyns WB, Reiter SF, Gomez Puertas P, Pujol A, Tumer Z. DLG4-related synaptopathy: a new rare brain disorder. GENET MED. 2021;23(5):888-899. doi:10.1038/s41436-020-01075-9. IF:8,82.
  • Arkin LM, Moon JJ, Tran JM, Asgari S, O’Farrelly C, Casanova JL, Cowen EW, Mays JW, Singh AM, Drolet BA, COVID Human Genetic E, PUJOL A. From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic?Associated Pernio. J Invest Dermatol. 2021;141(12):2791-2796. doi:10.1016/j.jid.2021.05.024. IF:8,55.
  • Troya J, Bastard P, Planas Serra L, Ryan P, Ruiz M, de Carranza M, Torres J, Martinez A, Abel L, Casanova JL, Pujol A. Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain. J Clin Immunol. 2021;41(5):914-922. doi:10.1007/s10875-021-01036-0. IF:8,32.
  • de Moura MC, Davalos V, Planas Serra L, Alvarez Errico D, Arribas C, Ruiz M, Aguilera Albesa S, Troya J, Valencia Ramos J, Velez Santamaria V, Rodriguez Palmero A, Villar Garcia J, Horcajada JP, Albu S, Casasnovas C, Rull A, Reverte L, Dietl B, Dalmau D, Arranz MJ, Llucia Carol L, Planas AM, Perez Tur J, Fernandez Cadenas I, Villares P, Tenorio J, Colobran R, Martin Nalda A, Soler Palacin P, Vidal F, Pujol A, Esteller M. Epigenome-wide association study of COVID-19 severity with respiratory failure. EBioMedicine. 2021;66103339-103339. doi:10.1016/j.ebiom.2021.103339. IF:8,14.
  • Andres Benito P, Gelpi E, Jove M, Mota Martorell N, Obis E, Portero Otin M, Povedano M, Pujol A, Pamplona R, Ferrer I. Lipid alterations in human frontal cortex in ALS-FTLD-TDP43 proteinopathy spectrum are partly related to peroxisome impairment. Neuropathol Appl Neurobiol. 2021;47(4):544-563. doi:10.1111/nan.12681. IF:8,09.