• Adrenoleucodistrofia ligada a X como paradigma de enfernedad neurometabólica
  • Patofisiología de la enfermedad de Pelizaeus Merzbacher, leucodistrofia metacromática y similares
  • Análisis comparativo del proteoma peroxisomal y del metaboloma

Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice

Jorge-Torres O., Szczesna K., Roa L., Casal C., Gonzalez-Somermeyer L., Soler M., Velasco C., Martínez-San Segundo P., Petazzi P., Sáez M., Delgado-Morales R., Fourcade S., Pujol A., Huertas D., Llobet A., Guil S., Esteller M.

CELL REPORTS (ISSN/ISBN: 22111247). 23 (6) : 1665-1677

2018

Genetic variants in HSD17B3, SMAD3, and IPO11 impact circulating lipids in response to fenofibrate in individuals with type 2 diabetes.

Rotroff DM, Pijut SS, Marvel SW, Jack JR, Havener TM, Pujol A, Schluter A, Graf GA, Ginsberg HN, Shah HS, Gao H, Morieri ML, Doria A, Mychaleckyi JC, McLeod HL, Buse JB, Wagner MJ, Motsinger-Reif AA, ACCORD/ACCORDion Investigators

CLINICAL PHARMACOLOGY AND THERAPEUTICS (ISSN/ISBN: 00099236)

2018

Evaluation of afferent pain pathways in adrenomyeloneuropathic patients

Yagüe S., Veciana M., Casasnovas C., Ruiz M., Pedro J., Valls-Solé J., Pujol A.

CLINICAL NEUROPHYSIOLOGY (ISSN/ISBN: 13882457). 129 (3) : 507-515

2018

SIRT2 in age-related neurodegenerative disorders

Fourcade S., Outeiro T., Pujol A.

AGING-US (ISSN/ISBN: 19454589). 10 (3) : 295-296

2018

Spatial Assessment of the Association between Long-Term Exposure to Environmental Factors and the Occurrence of Amyotrophic Lateral Sclerosis in Catalonia, Spain: A Population-Based Nested Case-Control Study

Povedano M., Saez M., Martínez-Matos J., Barceló M.

NEUROEPIDEMIOLOGY (ISSN/ISBN: 02515350). 33-49

2018

Beneficial effects of high-dose biotin (MD1003) in models of X-linked adrenoleukodystrophy

Fourcade, S.; Parameswaran, J.; Goicoechea, L.; Launay, N.; Ruíz, M.; Sedel, F.; Pujol, A.

MULTIPLE SCLEROSIS. (ISSN/ISBN: 13524585). 24521-522

2018

Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy.

Ranea-Robles P, Launay N, Ruiz M, Calingasan NY, Dumont M, Naudí A, Portero-Otín M, Pamplona R, Ferrer I, Beal MF, Fourcade S, Pujol A

EMBO MOLECULAR MEDICINE. (ISSN/ISBN: 17574676).

2018

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.

Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, Espinós C, Demeler B, Antonellis A, Francklyn C

HUMAN MUTATION (ISSN/ISBN: 10597794)

2018

Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease

Ruiz M., Bégou M., Launay N., Ranea-Robles P., Bianchi P., López-Erauskin J., Morató L., Guilera C., Petit B., Vaurs-Barriere C., Guéret-Gonthier C., Bonnet-Dupeyron M., Fourcade S., Auwerx J., Boespflug-Tanguy O., Pujol A.

BRAIN PATHOLOGY (ISSN/ISBN: 10156305)

2018

Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation.

Schlüter A, Sandoval J, Fourcade S, Díaz-Lagares A, Ruiz M, Casaccia P, Esteller M, Pujol A

BRAIN PATHOLOGY (ISSN/ISBN: 10156305)

2018

See full list

Medicina Personalizada para Adrenoleucodistrofia: Identificación de Patomecanismos de Neuroinflamación y Biomarcadores Predictivos

Ruiz Sales, Montserrat (Participante)

Entitat finançadora:
  • INSTITUTO DE SALUD CARLOS III

2018-01-01 - 2020-12-31

Medicina Personalizada para Adrenoleucodistrofia: Identificación de Patomecanismos de Neuroinflamación y Biomarcadores Predictivos

Investigador Principal: Aurora Pujol

Ref.: PI17/00916

2018-01-01 - 2020-01-01

AYUDAS JUAN DE LA CIERVA - FORMACION 2016

Pujol Onofre, Aurora (Investigador principal (IP))

Ref.: FJCI-2016-28811

Entitat finançadora:
  • MINISTERIO DE EDUCACIÓN Y CIENCIA

2017-11-13 - 2019-11-12

CONTRATOS MIGUEL SERVET TIPO II

Fourcade, Stephane (Investigador principal (IP))

Ref.: CPII16/00016

Entitat finançadora:
  • FIS-INSTITUTO DE SALUD CARLOS III

2017-02-14 - 2020-02-13

Implementación de la Medicina Personalizada basada en la Genómica en Enfermedades Minoritarias Neurológicas no Diagnosticadas

Pujol Onofre, Aurora (Participante)

Entitat finançadora:
  • DEPARTAMENT DE SALUT DE LA GENERALITAT DE CATALUNYA

2017-01-01 - 2019-01-01

Implementación de la Medicina Personalizada basada en la Genómica en Enfermedades Minoritarias Neurológicas no Diagnosticadas

Fourcade, Stephane (Investigador/a)

Entitat finançadora:
  • DEPARTAMENT DE SALUT DE LA GENERALITAT DE CATALUNYA

2017-01-01 - 2019-01-01

Implementación de la Medicina Personalizada basada en la Genómica en Enfermedades Minoritarias Neurológicas no Diagnosticadas

Investigador Principal: Aurora Pujol Onofre; Luis Perez Jurado

Entitat finançadora:
  • DEPARTAMENT DE SALUT DE LA GENERALITAT DE CATALUNYA

2017-01-01 - 2019-01-01

Grupo De Excelencia Consolidado Laboratorio de Enfermedades Neurometabólicas 2017SGR1206

Pujol Onofre, Aurora (Coordinador del proyecto total, red o consorcio)

Entitat finançadora:
  • AGAUR

2017-01-01 - 2019-01-01

Implementació de la Medicina Personalitzada basada en la Genòmica en Malalties Minoritàries Neurològiques no Diagnosticades

Munell Casadesus, Francina (Colaborador/a); Macaya Ruiz, Alfons (Investigador/a)

Ref.: SLT002/16/00174

Entitat finançadora:
  • GENERALITAT DE CATALUNYA - DEPARTAMENT DE SALUT

2017-01-01 - 2019-12-31

AJUTS ADDICIONALS PER LECTURA DE TESI DOCTORAL (FI-DGR)

Pujol Onofre, Aurora (Investigador principal (IP))

Ref.: 2014FI_B200028

Entitat finançadora:
  • AGAUR-GENERAL.CATALUNYA

2016-04-05 - 2018-12-31

See full list

Cross-talk between inflammation and mitochondria in X-linked adrenoleukodystrophy (X-ALD): an integrative approach towards different therapies

Pujol Onofre, Aurora (Director) Doctorando: Janani Parameswaran

2018

NRF2 and RIP140 as new therapeutic targets for X-linked adrenoleukodystrophy (X-ALD): Control of redox/metabolic homeostasis and inflammation

Codirector: Aurora Pujol; Stéphane Fourcade

2017

Discapacidad de la dinámica mitocondrial en adrenoleucodistrofia

Codirector: Stéphane Fourcade; Aurora Pujol

2016

Impairment of mitochondrial dynamics in X-linked adrenoleukodystrophy

Pujol Onofre, Aurora (Director) Doctorando: Patrizia Bianchi; Fourcade, Stephane (Director) Doctorando: Patrizia Bianchi

2016

A C. elegans model for X-linked Adrenoleukodystrophy: roles of pmp-4 fatty acid transporter in the nervous system

Dalfo Capella, Esther (Director) Doctorando: Sanjib Kumar Guha; Pujol Onofre, Aurora (Director) Doctorando: Sanjib Kumar Guha

2015

Modelling X-linked adrenoleukodystrophy in C. elegans and beyond: a tale of fatty acids and oxidative stress

Pujol Onofre, Aurora (Director) Doctorando: Andrea Coppa; Dalfo Capella, Esther (Director) Doctorando: Andrea Coppa

2015

Molecular mechanisms underlying mitochondrial dysfunction in X-linked adrenoleukodystrophy: therapeutic potential of SIRT1/PGC-1a activation

Pujol Onofre, Aurora (Director) Doctorando: Laia Morató Fornaguera

2015

Disfunción mitocondrial y estrés oxidativo en la fisiopatogenia de la adrenoleucodistrofia ligada al cromosoma X: de las bases moleculares a la terapia

Pujol Onofre, Aurora (Director) Doctorando: Jone López Erauskin

2013

Mitochondrial dysfunction and oxidative stress in the physiopathogenesis of X-adrenoleukodystrophy: from molecular basis to therapy

Pujol Onofre, Aurora (Director) Doctorando: Jone López-Erauskin

2013

Impact of oxidative stress and mitochondrial dysfunction in the energetic homeostasis of adrenoleukodystrophy: therapeutic implications

Pujol Onofre, Aurora (Director) Doctorando: Jorge Galino Barrés

2011

See full list