Neurometabolic diseases

Aurora Pujol Onofre

PRINCIPAL INVESTIGATORS
  • Stephane Fourcade
  • Carlos Casasnovas Pons
POSTDOCTORAL RESEARCHERS (R2)
  • Edgard Verdura Peralta
  • Montserrat Ruiz Sales
  • Nathalie Launay
  • Agatha Schlüter Martin
PREDOCTORAL RESEARCHERS (R1)
  • 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

24

PAPERS

Impact factor: 41,846

6 PUBLICATIONS IN FIRST DECILE

14 PUBLICATIONS IN FIRST QUARTILE

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

9 Ongoing projects
4 Granted projects 

 

11 Ongoing clinical trials

2 Started clinical trials

PUBLISHED WORKS

1 Defended thesis

6 Ongoing theses

2 Clinical Guidelines

INNOVATION

1 Patent

1 license

Selected projects

  • Medicina personalizada para adrenoleucodistrofia: identificación de patomecanismos de neuroinflamación y biomarcadores predictivos (PI17/00916) (1/1/2019 – 31/12/2022) PI: PUJOL ONOFRE, AURORA MARIA. Funder: FIS-Instituto de Salud Carlos III.
  • Análisis Multiómico para comprender y tratar las enfermedades lipídicas raras del cerebro (1/6/2019 – 31/5/2020) PI: PUJOL ONOFRE, AURORA MARIA. Funder: MINISTERIO DE EDUCACION Y CIENCIA.
  • Medicina Personalizada para Adrenoleucodistrofia: Identificación de Patomecanismos de Neuroinflamación y Biomarcadores Predictivos (1/1/2018 – 31/12/2020) PI: PUJOL ONOFRE, AURORA MARIA. Funder: FIS-Instituto de Salud Carlos III.
  • Implementació de la Medicina Personalitzada basada en la Genómica en Malalties Minoritaries Neurológiques no Diagnosticades (27/3/2017 – 31/12/2019) PI: PUJOL ONOFRE, AURORA MARIA. Funder: DEPARTAMENT SALUT (PR).
  • An open-label extension study of MOM-M281-004 to evaluate the safety, tolerability, and efficacy of M281 administered to patients with generalized myasthenia gravis (13/3/2019 – ) PI: CASASNOVAS PONS, CARLOS. Funder ref.: MOM-M281-005.
  • HELIOS-A: a phase 3 global, randomized, open-label study to evaluate the efficacy and safety of ALN-TTRSC02 in patients with hereditary transthyretin amyloidosis (HATTR amyloidosis) (13/5/2019 – ) PI: CASASNOVAS PONS, CARLOS. Funder ref.: ALN-TTRSC02-002.
  • Tolerabilidad y seguridad a largo plazo de la infusión de inmunoglobulina (humana) al 10% con hialuronidasa recombinante humana (HYQVIA/HYQVIA) para el tratamiento de la polirradiculoneuropatía desmielinizante inflamatoria crónica (PDIC)KE (10/9/2019 – ) PI: CASASNOVAS PONS, CARLOS. Funder ref.: 161505.
  • Estudio de fase 3, aleatorizado, doble ciego, controlado con placebo y multicéntrico para evaluar la seguridad y la eficacia de Ruvulizumab en pacientes adultos sin tratamiento previo con inhibidores del complemento con miastenia gravis generalizada (10/9/2019 -) PI: CASASNOVAS PONS, CARLOS. Funder ref.: ALXN1210-MG-306.
  • A phase 3, randomized, double-blind, placebo-controlled study evaluating efficacy and safety of Rozanolixizumab in adult patients with generalized myasthenia gravis (15/10/2019 – ) PI: CASASNOVAS PONS, CARLOS. Funder ref.: MG0003.