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Neurometabolic diseases


Research lines

- X-linked Adrenoleukodystrophy as a paradigm of neurometabolic disease


- Pathophysiology of Pelizaeus Merzbacher, Metachromatic Leukodystrophy and beyond


- Comparative insight in the peroxisomal proteome and metabolome


Selected papers


(2017)

 

Launay N, Ruiz M, Grau L, Ortega FJ, Ilieva EV, Martínez JJ, Galea E, Ferrer I, Knecht E, Pujol A, Fourcade S. Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy. Acta Neuropathol. 2017 Feb;133(2):283-301. doi: 10.1007/s00401-016-1655-9. PubMed PMID: 28004277; PubMed Central PMCID: PMC5250669.

 

 

Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, Mandel JL, Piton A. Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. Am J Hum Genet. 2017 Jan 5;100(1):105-116. doi: 10.1016/j.ajhg.2016.11.010. PubMed PMID: 27939639; PubMed Central PMCID: PMC5223023.

 

 

(2016) 

 

Pàmpols T, Ramos FJ, Lapunzina P, Gozalo-Salellas I, Pérez-Jurado LA, Pujol A. A view on clinical genetics and genomics in Spain: of challenges and opportunities. Mol Genet Genomic Med. 2016 Jul 18;4(4):376-91. doi: 10.1002/mgg3.232. PubMed PMID: 27468414; PubMed Central PMCID: PMC4947857.

 

Webster R, Cho MT, Retterer K, Millan F, Nowak C, Douglas J, Ahmad A, Raymond GV, Johnson MR, Pujol A, Begtrup A, McKnight D, Devinsky O, Chung WK. De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Clin Genet. 2016 Aug 28. doi: 10.1111/cge.12854. PubMed PMID: 27568816.

 

Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, Hörtnagel K, Schlüter A, Ruiz M, Pujol A, Züchner S, Riess O, Schüle R, Bauer P, Schöls L. Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. 2016 Jul 12;87(2):186-91. doi: 10.1212/WNL.0000000000002843. PubMed PMID: 27316240; PubMed Central PMCID: PMC4940069

 

Daniel J Klionsky et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy Volume 12, Issue 1, 2016. PMID: 26799652

 

Pardo L, Schlüter A, Valor LM, Barco A, Giralt M, Golbano A, Hidalgo J, Jia P, Zhao Z, Jové M, Portero-Otin M, Ruiz M, Giménez-Llort L, Masgrau R, Pujol A, Galea E. Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury. Glia. 2016 May;64(5):853-74. doi: 10.1002/glia.22969. PMID:26880229. Epub 2016 Feb 16.

 

(2015)

 

Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X; MSeqDR Consortium Participants; MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,; Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,; Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki,; Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,; Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong. Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Mol Genet Metab. 2015 Mar;114(3):388-96.

 

 

Ruiz M, Jové M, Schlüter A, Casasnovas C, Villarroya F, Guilera C, Ortega FJ, Naudí A, Pamplona R, Gimeno R, Fourcade S, Portero-Otín M, Pujol A. Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy. Hum Mol Genet. 2015 2015 Dec 15;24(24):6861-76. doi: 10.1093/hmg/ddv375. Epub 2015 Sep 14.

 

Fourcade S, Ferrer I, Pujol A. Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration. Free Radic Biol Med. 2015 Jun 12. pii: S0891-5849(15)00264-6.

 

Kruska N, Schönfeld P, Pujol A, Reiser G. Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions. Biochim Biophys Acta. 2015 May;1852(5):925-36. doi: 10.1016/j.bbadis.2015.01.005. Epub 2015 Jan 10.

 

López-González I, Schlüter A, Aso E, Garcia-Esparcia P, Ansoleaga B, LLorens F, Carmona M, Moreno J, Fuso A, Portero-Otin M, Pamplona R,Pujol A, Ferrer I. Neuroinflammatory signals in Alzheimer disease and APP/PS1 transgenic mice: correlations with plaques, tangles, and oligomeric species. Journal of Neuropathology and Experimental Neurology. 2015 Apr;74(4):319-44. doi: 10.1097/NEN.0000000000000176.

 

Morató L, Ruiz M, Boada J, Calingasan NY, Galino J, Guilera C, Jové M, Naudí A, Ferrer I, Pamplona R, Serrano M, Portero-Otín M, Beal MF, Fourcade S, Pujol A. Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy. Cell Death Differ. 2015 Nov;22(11):1742-53. doi: 10.1038/cdd.2015.20. Epub 2015 Mar 27.

 

(2014)

 

Launay N, Aguado C, Fourcade S, Ruiz M, Grau L, Riera J, Guilera C, Giròs M, Ferrer I, Knecht E, Pujol A. Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy. Acta Neuropathol. 2015 Mar;129(3):399-415. doi: 10.1007/s00401-014-1378-8. Epub 2014 Dec 31.

 

Ansoleaga B, Jové M, Schlüter A, Garcia-Esparcia P, Moreno J, Pujol A, Pamplona R, Portero-Otín M, Ferrer I. Deregulation of purine metabolism in Alzheimer's disease. Neurobiol Aging. 2015 Jan;36(1):68-80. doi: 10.1016/j.neurobiolaging.2014.08.004. Epub 2014 Aug 8.

 

Liu X, Liu J, Liang S, Schlüter A, Fourcade S, Aslibekyan S, Pujol A, Graf GA. ABCD2 alters peroxisome proliferator-activated receptor α signaling in vitro, but does not impair responses to fenofibrate therapy in a mouse model of diet-induced obesity. Mol Pharmacol. 2014 Nov;86(5):505-13. doi: 10.1124/mol.114.092742. Epub 2014 Aug 14

 

Szczesna K, de la Caridad O, Petazzi P, Soler M, Roa L, Saez MA, Fourcade S, Pujol A, Artuch-Iriberri R, Molero-Luis M, Vidal A, Huertas D, Esteller M. Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa Decarboxylase Inhibitor. Neuropsychopharmacology.  2014 Nov;39(12):2846-56. doi: 10.1038/npp.2014.136. Epub 2014 Jun 11.

 

Morató L, Bertini E, Verrigni D, Ardissone A, Ruiz M, Ferrer I, Uziel G, Pujol A. Mitochondrial dysfunction in central nervous system white matter disorders. Glia. 2014 May 28. doi: 10.1002/glia.22670

 

Pirinen E, Cantó C, Jo YS, Morato L, Zhang H, Menzies KJ, Williams EG, Mouchiroud L, Moullan N, Hagberg C, Li W, Timmers S, Imhof R, Verbeek J, Pujol A, van Loon B, Viscomi C, Zeviani M, Schrauwen P, Sauve AA, Schoonjans K, Auwerx J. Pharmacological Inhibition of Poly(ADP-Ribose) Polymerases Improves Fitness and Mitochondrial Function in Skeletal Muscle. Cell Metab. 2014 May 7. pii: S1550-4131(14)00165-X. doi: 10.1016/j.cmet.2014.04.002

 

Cabello J, Sämann J, Gómez-Orte E, Erazo T, Coppa A, Pujol A, Büssing I, Schulze B, Lizcano JM, Ferrer I, Baumeister R, Dalfo E. PDR-1/hParkin negatively regulates the phagocytosis of apoptotic cell corpses in Caenorhabditis elegans. Cell Death Dis. 2014 Mar 13;5:e1120.

 

Stack C, Jainuddin S, Elipenahli C, Gerges M, Starkova N, Starkov AA, Jové M, Portero-Otin M, Launay N, Pujol A, Kaidery NA, Thomas B, Tampellini D, Beal MF, Dumont M. Methylene blue upregulates Nrf2/ARE genes and prevents tau-related neurotoxicity. Hum Mol Genet. 2014 Mar 3. doi:10.1093/hmg/ddu080

 

Fourcade S, López-Erauskin J, Ruiz M, Ferrer I, Pujol A. Mitochondrial dysfunction and oxidative damage cooperatively fuel axonal degeneration in X-linked adrenoleukodystrophy.Biochimie. 2014 Mar;98:143-9.

 

Dumont M, Stack C, Elipenahli C, Jainuddin S, Launay N, Gerges M, Starkova N, Starkov AA, Calingasan NY, Tampellini D, Pujol A, Beal MF. PGC-1α overexpression exacerbates β-amyloid and tau deposition in a transgenic mouse model of Alzheimer's disease. FASEB J. 2014 April; Vol.28. doi: 10.1096/fj.13-236331

 

 

(2013)

 

Morató L, Galino J, Ruiz M, Calingasan NY, Starkov AA, Dumont M, Naudí A, Martínez JJ, Aubourg P, Portero-Otín M, Pamplona R, Galea E, Beal MF, Ferrer I, Fourcade S, Pujol A. Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy. Brain. 2013 Aug;136(Pt 8):2432-43. 

 

Petrillo S, Piemonte F, Pastore A, Tozzi G, Aiello C, Pujol A, Cappa M, Bertini E. Glutathione imbalance in patients with X-linked adrenoleukodystrophy. Mol Genet Metab. 2013 Aug;109(4):366-70. 

 

Singh J, Khan M, Pujol A, Baarine M, Singh I. Histone deacetylase inhibitor upregulates peroxisomal fatty acid oxidation and inhibits apoptotic cell death in abcd1-deficient glial cells. PLoS One. 2013 Jul 26;8(7):e70712. 

 

Garcia-Esparcia P, Schlüter A, Carmona M, Moreno J, Ansoleaga B, Torrejón-Escribano B, Gustincich S, Pujol A, Ferrer I. Functional Genomics Reveals Dysregulation of Cortical Olfactory Receptors in Parkinson Disease: Novel Putative Chemoreceptors in the Human Brain. J Neuropathol Exp Neurol. 2013 June;72(6):524-539.

 

J. Lopez-Erauskin; J. Galino; M. Ruiz; J.M. Cuezva; I. Fabregat; D. Cacabelos; J. Boada; J. Martinez; I. Ferrer; R. Pamplona; F. Villarroya; M. Portero-Otin; S. Fourcade; A. Pujol. Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy. Hum Mol Genet. 2013 Aug 15;22(16):3296-305.

 

López-Erauskin J, Ferrer I, Galea E, Pujol A. Cyclophilin D as a potential target for antioxidants in neurodegeneration: the X-ALD case. Biol Chem. 2013 May 1;394(5):621-9 

 

Launay N, Ruiz M,  Fourcade S, Schluter A, Guilera C, Ferrer I, Knecht E, Pujol A. Oxidative stress regulates the ubiquitin-proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy. Brain 2013 136: 891-904.

 

Serrano JC, Gonzalo-Benito H, Jové M, Fourcade S, Cassanyé A, Boada J, Delgado MA, Espinel AE, Pamplona R, Portero-Otín M. Dietary intake of green tea polyphenols regulates insulin sensitivity with an increase in AMP-activated protein kinase a content and changes in mitochondrial respiratory complexes. Mol Nutr Food Res; 2013 Mar; 57(3):459-70

 

López-Erauskin J, Ferrer I, Galea E, Pujol A. Cyclophilin D as a potential target for antioxidants in neurodegeneration: the X-ALD case. Biol Chem. 2013 May 1;394(5):621-9 

 

 

(2012)

 

López-Erauskin J, Galino J, Bianchi P, Fourcade S, Andreu AL, Ferrer I, Muñoz-Pinedo C, Pujol A. Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy. Brain. 2012 Dec;135(Pt 12):3584-98.

 

Dumont M, Stack C, Elipenahli C, Jainuddin S, Gerges M, Starkova N, Calingasan NY, Yang L, Tampellini D, Starkov AA, Chan RB, Di Paolo G, Pujol A, Beal MF. Bezafibrate administration improves behavioral deficits and tau pathology in P301S mice. Hum Mol Genet. 2012 Dec 1;21(23):5091-105

 

Carriba P, Pardo L, Parra-Damas A, Lichtenstein MP, Saura CA, Pujol A, Masgrau R, Galea E. ATP and noradrenaline activate CREB in astrocytes via noncanonical Ca(2+) and cyclic AMP independent pathways. Glia. 2012 Sep;60(9):1330-44.

 

Liu J, Liang S, Liu X, Brown JA, Newman KE, Sunkara M, Morris AJ, Bhatnagar S, Li X, Pujol A, Graf GA. The absence of ABCD2 sensitizes mice to disruptions in lipid metabolism by dietary erucic acid. J Lipid Res. 2012 Jun;53(6):1071-9.

 

Engelen M, Schackmann MJ, Ofman R, Sanders RJ, Dijkstra IM, Houten SM, Fourcade S, Pujol A, Poll-The BT, Wanders RJ, Kemp S. Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation. J Inherit Metab Dis (2012) 35:1137–1145

 

Galea E, Launay N, Portero-Otin M, Ruiz M, Pamplona R, Aubourg P, Ferrer I, Pujol A. Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: A paradigm for multifactorial neurodegenerative diseases? Biochim Biophys Acta. 2012 Sep;1822(9):1475-88.

 

Lichtenstein MP, Madrigal JL, Pujol A, Galea E. JNK/ERK/FAK mediate promigratory actions of basic fibroblast growth factor in astrocytes via CCL2 and COX2. Neurosignals. 2012;20(2):86-102.

 

Aso E, Lomoio S, López-González I, Joda L, Carmona M, Fernández-Yagüe N, Moreno J, Juvés S, Pujol A, Pamplona R, Portero-Otin M, Martín V, Díaz M, Ferrer I. Amyloid Generation and Dysfunctional Immunoproteasome Activation with Disease Progression in Animal Model of Familial Alzheimer's Disease. Brain Pathol. 2012 Sep;22(5):636-653.

 

Schlüter A, Espinosa L, Fourcade S, Galino J, López E, Ilieva E, Morató L, Asheuer M, Cook T, McLaren A, Reid J, Kelly F, Bates S, Aubourg P, Galea E, Pujol A. Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy. Hum Mol Genet. 2012 Mar 1;21(5):1062-77.

 

Ferrer I, López-Gonzalez I, Carmona M, Dalfó E, Pujol A, Martínez A. Neurochemistry and the non-motor aspects of PD. Neurobiol Dis. 2012 Jun;46(3):508-26.

 

(2011)

 

Jone López-Erauskin, Stéphane Fourcade, Jorge Galino, Montserrat Ruiz, Agatha Schlüter, Alba Naudi, Manuel Portero-Otin, Reinald Pamplona, Isidre Ferrer, and Aurora Pujol. Antioxidants Halt Axonal Degeneration in a Mouse Model of X-Adrenoleukodystrophy. Ann Neurol 2011;70:84–92

 

Schlüter A, Ruiz-Trillo I, Pujol A. Phylogenomic evidence for a myxococcal contribution to the mitochondrial fatty acid beta-oxidation. PLoS One. 2011;6(7):e21989. 

 

Jorge Galino, Montserrat Ruiz,  Stéphane Fourcade, Agatha Schlüter, Jone López-Erauskin, Cristina Guilera, Mariona Jove, Alba Naudi, Elena García-Arumí, Antoni L. Andreu, Anatoly A. Starkov, Reinald Pamplona, Isidre Ferrer, Manuel Portero-Otin, and Aurora Pujol. Oxidative Damage Compromises Energy Metabolism in the Axonal Degeneration Mouse Model of X-Adrenoleukodystrophy. Antioxid Redox Signal. 2011 Oct 15;15(8):2095-107 

 

(2010)

  
Gautron AS, Giquel B, Beaudoin L, Autrusseau E, Speak A, Platt F, Kemp S, Pujol A, Aubourg P, Lehuen A. Invariant NKT cells in adrenoleukodystrophy patients and mice. J Neuroimmunol. 2010 Dec 15;229(1-2):204-11.

 

Lichtenstein MP, Carriba P, Masgrau R, Pujol A, Galea E. Staging anti-inflammatory therapy in Alzheimer's disease. Front Aging Neurosci. 2010 Oct 25;2:142.

 

Johannes Berger; Aurora Pujol; Patrick Aubourg; Sonja Forss-Petter. Current and Future Pharmacological Treatment Strategies in X-Linked Adrenoleukodystrophy. MINI-SYMPOSIUM: X - Linked Adrenoleukodystrophy. Brain Pathol. 2010 Jul;20(4):845-56.

 

Inderjit Singh and Aurora Pujol. Pathomechanisms Underlying X-Adrenoleukodystrophy: A Three-Hit Hypothesis. MINI-SYMPOSIUM: X - Linked Adrenoleukodystrophy. Brain Pathol. 2010 Jul;20(4):838-44

 

Isidro Ferrer; Patrick Aubourg; Aurora Pujol. General Aspects and Neuropathology of X-Linked Adrenoleukodystrophy. MINI-SYMPOSIUM: X - Linked Adrenoleukodystrophy. Brain Pathol.2010 Jul;20(4):817-30.

 

Isidro Ferrer; Aurora Pujol. Schilder's disease a heterogenous group of disorders known as X-linked adrenoleukodystrophy. Foreword. MINI-SYMPOSIUM: X - Linked Adrenoleukodystrophy. Brain Pathol. 2010 Jul;20(4):815-6

 

Fourcade S, Ruiz M, Guilera C, Hahnen E, Brichta L, Naudi A, Portero-Otín M, Dacremont G, Cartier N, Wanders R, Kemp S, Mandel JL, Wirth B, Pamplona R, Aubourg P, Pujol A. Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. Hum Mol Genet. 2010 May 15;19(10):2005-14

 

Schlüter A, Real-Chicharro A, Gabaldón T , Sánchez-Jiménez F and Pujol A*. PeroxisomeDB 2.0: an integrative view on the global peroxisomal metabolome. Nucleic Acids Res. 2010 Jan;38(Database issue):D800-5.

 

Liu J, Sabeva NS, Bhatnagar S, Li X, Pujol A, Graf GA. ABCD2 is abundant in adipose tissue and opposes the accumulation of dietary erucic acid (C22:1) in fat. J Lipid Res. 2010 Jan;51(1):162-8.

 

(2009)

 

S Fourcade, M Ruiz, C Camps, A Schlüter, S M. Houten, P Mooyer, T Pàmpols, G Dacremont, RJA. Wanders, M Giròs and A Pujol. A key role for the peroxisomal Abcd2 transporter in fatty acid homeostasis. American Journal of Physiology. Endocrinology and Metabolism. 296(1):E211-21. (2009)

 

Mastroeni R, Bensadoun JC, Charvin D, Aebischer P, Pujol A, Raoul C. Insulin-like Growth Factor-1 and Neurotrophin-3 Gene Therapy Prevents Motor Decline in an X-Linked Adrenoleukodystrophy Mouse Model. Annals of Neurology. 2009;66(1):117-122.

El proyecto con expediente: PI14/00410 y título “La regulación bioenergética como diana terapeútica en adrenoleucodistrofia: disección de las vías E2F1/RIP140 y protección mitocondrial en el modelo murino “.

Convocatoria de Ayudas de Proyectos de Investigación en Salud, con un presupuesto de 304.315,00 € cofinanciado por el Fondo de Desarrollo Regional (FEDER) de la Unión Europea y el Instituto de Salud Carlos III. La Dra. Aurora Pujol Onofre como IP.

 

imatge personal
 

Group leader

Aurora Pujol
Telephone  
+34 932607137
E-mail  
apujol@idibell.cat
 
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