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Items: 1 to 50 of 54

1.

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.

Verdura E, Fons C, Schlüter A, Ruiz M, Fourcade S, Casasnovas C, Castellano A, Pujol A.

J Med Genet. 2019 Oct 5. pii: jmedgenet-2019-106373. doi: 10.1136/jmedgenet-2019-106373. [Epub ahead of print]

PMID:
31586945
2.

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study.

Casasnovas C, Ruiz M, Schlüter A, Naudí A, Fourcade S, Veciana M, Castañer S, Albertí A, Bargalló N, Johnson M, Raymond GV, Fatemi A, Moser AB, Villarroya F, Portero-Otín M, Artuch R, Pamplona R, Pujol A.

Neurotherapeutics. 2019 May 10. doi: 10.1007/s13311-019-00735-2. [Epub ahead of print]

PMID:
31077039
3.

A novel mutation in the GFAP gene expands the phenotype of Alexander disease.

Casasnovas C, Verdura E, Vélez V, Schlüter A, Pons-Escoda A, Homedes C, Ruiz M, Fourcade S, Launay N, Pujol A.

J Med Genet. 2019 Apr 19. pii: jmedgenet-2018-105959. doi: 10.1136/jmedgenet-2018-105959. [Epub ahead of print]

PMID:
31004048
4.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A.

J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11.

5.

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 Mol Med. 2018 Aug;10(8). pii: e8604. doi: 10.15252/emmm.201708604.

6.

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

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

Cell Rep. 2018 May 8;23(6):1665-1677. doi: 10.1016/j.celrep.2018.04.010.

7.

SIRT2 in age-related neurodegenerative disorders.

Fourcade S, Outeiro TF, Pujol A.

Aging (Albany NY). 2018 Mar 3;10(3):295-296. doi: 10.18632/aging.101397. No abstract available.

8.

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 Pathol. 2018 Nov;28(6):902-919. doi: 10.1111/bpa.12595. Epub 2018 Apr 10.

PMID:
29476661
9.

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 MN, Fourcade S, Auwerx J, Boespflug-Tanguy O, Pujol A.

Brain Pathol. 2018 Sep;28(5):611-630. doi: 10.1111/bpa.12571. Epub 2017 Dec 26.

PMID:
29027761
10.

Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance.

Fourcade S, Morató L, Parameswaran J, Ruiz M, Ruiz-Cortés T, Jové M, Naudí A, Martínez-Redondo P, Dierssen M, Ferrer I, Villarroya F, Pamplona R, Vaquero A, Portero-Otín M, Pujol A.

Aging Cell. 2017 Dec;16(6):1404-1413. doi: 10.1111/acel.12682. Epub 2017 Oct 5.

11.

The key role of the composition and structural features in fluoride ion conductivity in tysonite Ce1-xSrxF3-x solid solutions.

Dieudonné B, Chable J, Body M, Legein C, Durand E, Mauvy F, Fourcade S, Leblanc M, Maisonneuve V, Demourgues A.

Dalton Trans. 2017 Mar 14;46(11):3761-3769. doi: 10.1039/c6dt04714a.

12.

Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy.

Launay N, Ruiz M, Grau L, Ortega FJ, Ilieva EV, Martínez JJ, Galea E, Ferrer I, Knecht E, Pujol A, Fourcade S.

Acta Neuropathol. 2017 Feb;133(2):283-301. doi: 10.1007/s00401-016-1655-9. Epub 2016 Dec 21.

13.

Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy.

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.

Hum Mol Genet. 2015 Dec 15;24(24):6861-76. doi: 10.1093/hmg/ddv375. Epub 2015 Sep 14.

PMID:
26370417
14.

[Gestational diabetes].

Terrenes S, Fourcade S.

Rev Infirm. 2015 Aug-Sep;(213):43-4. doi: 10.1016/j.revinf.2015.06.014. French. No abstract available.

PMID:
26365647
15.

Fluoride solid electrolytes: investigation of the tysonite-type solid solutions La1-xBaxF3-x (x < 0.15).

Chable J, Dieudonné B, Body M, Legein C, Crosnier-Lopez MP, Galven C, Mauvy F, Durand E, Fourcade S, Sheptyakov D, Leblanc M, Maisonneuve V, Demourgues A.

Dalton Trans. 2015 Dec 7;44(45):19625-35. doi: 10.1039/c5dt02321a. Epub 2015 Aug 6.

PMID:
26246328
16.

Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration.

Fourcade S, Ferrer I, Pujol A.

Free Radic Biol Med. 2015 Nov;88(Pt A):18-29. doi: 10.1016/j.freeradbiomed.2015.05.041. Epub 2015 Jun 12. Review.

17.

Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy.

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.

Cell Death Differ. 2015 Nov;22(11):1742-53. doi: 10.1038/cdd.2015.20. Epub 2015 Mar 27.

18.

Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.

Launay N, Aguado C, Fourcade S, Ruiz M, Grau L, Riera J, Guilera C, Giròs M, Ferrer I, Knecht E, Pujol A.

Acta Neuropathol. 2015 Mar;129(3):399-415. doi: 10.1007/s00401-014-1378-8. Epub 2014 Dec 31.

19.

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.

Liu X, Liu J, Liang S, Schlüter A, Fourcade S, Aslibekyan S, Pujol A, Graf GA.

Mol Pharmacol. 2014 Nov;86(5):505-13. doi: 10.1124/mol.114.092742. Epub 2014 Aug 14.

20.

Improvement of the Rett syndrome phenotype in a MeCP2 mouse model upon treatment with levodopa and a dopa-decarboxylase inhibitor.

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.

Neuropsychopharmacology. 2014 Nov;39(12):2846-56. doi: 10.1038/npp.2014.136. Epub 2014 Jun 11.

21.

Mitochondrial dysfunction and oxidative damage cooperatively fuel axonal degeneration in X-linked adrenoleukodystrophy.

Fourcade S, López-Erauskin J, Ruiz M, Ferrer I, Pujol A.

Biochimie. 2014 Mar;98:143-9. doi: 10.1016/j.biochi.2013.09.012. Epub 2013 Sep 24. Review.

PMID:
24076127
22.

Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy.

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.

Brain. 2013 Aug;136(Pt 8):2432-43. doi: 10.1093/brain/awt143. Epub 2013 Jun 22.

23.

Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy.

López-Erauskin J, Galino J, Ruiz M, Cuezva JM, Fabregat I, Cacabelos D, Boada J, Martínez J, Ferrer I, Pamplona R, Villarroya F, Portero-Otín M, Fourcade S, Pujol A.

Hum Mol Genet. 2013 Aug 15;22(16):3296-305. doi: 10.1093/hmg/ddt186. Epub 2013 Apr 20.

PMID:
23604518
24.

Oxidative stress regulates the ubiquitin-proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy.

Launay N, Ruiz M, Fourcade S, Schlüter A, Guilera C, Ferrer I, Knecht E, Pujol A.

Brain. 2013 Mar;136(Pt 3):891-904. doi: 10.1093/brain/aws370.

PMID:
23436506
25.

Dietary intake of green tea polyphenols regulates insulin sensitivity with an increase in AMP-activated protein kinase α content and changes in mitochondrial respiratory complexes.

Serrano JC, Gonzalo-Benito H, Jové M, Fourcade S, Cassanyé A, Boada J, Delgado MA, Espinel AE, Pamplona R, Portero-Otín M.

Mol Nutr Food Res. 2013 Mar;57(3):459-70. doi: 10.1002/mnfr.201200513. Epub 2012 Dec 23.

PMID:
23281062
26.

Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy.

López-Erauskin J, Galino J, Bianchi P, Fourcade S, Andreu AL, Ferrer I, Muñoz-Pinedo C, Pujol A.

Brain. 2012 Dec;135(Pt 12):3584-98. doi: 10.1093/brain/aws292.

27.

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.

Engelen M, Schackmann MJ, Ofman R, Sanders RJ, Dijkstra IM, Houten SM, Fourcade S, Pujol A, Poll-The BT, Wanders RJ, Kemp S.

J Inherit Metab Dis. 2012 Nov;35(6):1137-45. doi: 10.1007/s10545-012-9471-4. Epub 2012 Mar 24.

28.

[Morel-Lavallee syndrome of the lower leg].

Archier E, Grillo JC, Fourcade S, Gaudy C, Grob JJ, Richard MA.

Ann Dermatol Venereol. 2012 Mar;139(3):216-20. doi: 10.1016/j.annder.2011.12.032. Epub 2012 Feb 21. French.

PMID:
22401688
29.

Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy.

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.

Hum Mol Genet. 2012 Mar 1;21(5):1062-77. doi: 10.1093/hmg/ddr536. Epub 2011 Nov 17.

30.

Localized skin necrosis of steroid-induced striae distensae: an unusual complication of bevacizumab and irinotecan therapy.

Fourcade S, Gaudy-Marqueste C, Tasei AM, Richard MA, Grob JJ.

Arch Dermatol. 2011 Oct;147(10):1227-8. doi: 10.1001/archdermatol.2011.311. No abstract available.

PMID:
22006149
31.

Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy.

López-Erauskin J, Fourcade S, Galino J, Ruiz M, Schlüter A, Naudi A, Jove M, Portero-Otin M, Pamplona R, Ferrer I, Pujol A.

Ann Neurol. 2011 Jul;70(1):84-92. doi: 10.1002/ana.22363.

32.

Mucosal Leishmania infantum leishmaniasis: specific pattern in a multicentre survey and historical cases.

Faucher B, Pomares C, Fourcade S, Benyamine A, Marty P, Pratlong L, Faraut F, Mary C, Piarroux R, Dedet JP, Pratlong F.

J Infect. 2011 Jul;63(1):76-82. doi: 10.1016/j.jinf.2011.03.012. Epub 2011 May 20.

PMID:
21658772
33.

Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy.

Galino J, Ruiz M, Fourcade S, Schlüter A, López-Erauskin J, Guilera C, Jove M, Naudi A, García-Arumí E, Andreu AL, Starkov AA, Pamplona R, Ferrer I, Portero-Otin M, Pujol A.

Antioxid Redox Signal. 2011 Oct 15;15(8):2095-107. doi: 10.1089/ars.2010.3877. Epub 2011 Jun 8.

34.

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy.

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.

Hum Mol Genet. 2010 May 15;19(10):2005-14. doi: 10.1093/hmg/ddq082. Epub 2010 Feb 23.

PMID:
20179078
35.

[Mucocutaneous leishmaniasis due to Leishmania guyanensis: a case report in an HIV-infected patient].

Fourcade S, Huber FI, Blanchet D, Aznar C, Clyti E, Simon S, Sainte-Marie D, Carme B, Couppié P.

Med Trop (Mars). 2008 Oct;68(5):533-6. French.

PMID:
19068990
36.

A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis.

Fourcade S, Ruiz M, Camps C, Schlüter A, Houten SM, Mooyer PA, Pàmpols T, Dacremont G, Wanders RJ, Giròs M, Pujol A.

Am J Physiol Endocrinol Metab. 2009 Jan;296(1):E211-21. doi: 10.1152/ajpendo.90736.2008. Epub 2008 Oct 14.

37.

MR imaging, proton MR spectroscopy, ultrasonographic, histologic findings in patients with chronic lymphedema.

Fumiere E, Leduc O, Fourcade S, Becker C, Garbar C, Demeure R, Wilputte F, Leduc A, Delcour C.

Lymphology. 2007 Dec;40(4):157-62.

PMID:
18365529
38.

Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.

Fourcade S, López-Erauskin J, Galino J, Duval C, Naudi A, Jove M, Kemp S, Villarroya F, Ferrer I, Pamplona R, Portero-Otin M, Pujol A.

Hum Mol Genet. 2008 Jun 15;17(12):1762-73. doi: 10.1093/hmg/ddn085. Epub 2008 Mar 14.

PMID:
18344354
39.

Steroid hormones control circadian Elovl3 expression in mouse liver.

Brolinson A, Fourcade S, Jakobsson A, Pujol A, Jacobsson A.

Endocrinology. 2008 Jun;149(6):3158-66. doi: 10.1210/en.2007-1402. Epub 2008 Feb 21.

PMID:
18292190
40.

Chikungunya infection: an emerging rheumatism among travelers returned from Indian Ocean islands. Report of 47 cases.

Simon F, Parola P, Grandadam M, Fourcade S, Oliver M, Brouqui P, Hance P, Kraemer P, Ali Mohamed A, de Lamballerie X, Charrel R, Tolou H.

Medicine (Baltimore). 2007 May;86(3):123-37.

41.

PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease.

Schlüter A, Fourcade S, Domènech-Estévez E, Gabaldón T, Huerta-Cepas J, Berthommier G, Ripp R, Wanders RJ, Poch O, Pujol A.

Nucleic Acids Res. 2007 Jan;35(Database issue):D815-22. Epub 2006 Nov 28.

42.

[Chikungunya: a case of painful rash and fever in a patient returning from the Indian Ocean].

Fourcade S, Simon F, Morand JJ.

Ann Dermatol Venereol. 2006 Jun-Jul;133(6-7):549-51. French.

PMID:
16885842
43.

The evolutionary origin of peroxisomes: an ER-peroxisome connection.

Schlüter A, Fourcade S, Ripp R, Mandel JL, Poch O, Pujol A.

Mol Biol Evol. 2006 Apr;23(4):838-45. Epub 2006 Feb 1.

PMID:
16452116
44.

Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator.

Gondcaille C, Depreter M, Fourcade S, Lecca MR, Leclercq S, Martin PG, Pineau T, Cadepond F, ElEtr M, Bertrand N, Beley A, Duclos S, De Craemer D, Roels F, Savary S, Bugaut M.

J Cell Biol. 2005 Apr 11;169(1):93-104. Epub 2005 Apr 4.

45.

Characterization of a mammalian smooth muscle cell line that has retained transcriptional and posttranscriptional potencies.

Pasquet S, Thiebaud P, Faucheux C, Olive M, Fourcade S, Lalevee N, Lamaziere JM, Theze N.

In Vitro Cell Dev Biol Anim. 2004 May-Jun;40(5-6):133-7.

PMID:
15479116
46.

Pharmacological induction of redundant genes for a therapy of X-ALD: phenylbutyrate and other compounds.

Bugaut M, Fourcade S, Gondcaille C, Gueugnon F, Depreter M, Roels F, Netik A, Berger J, Martin P, Pineau T, Cadepond F, El Etr M, Savary S.

Adv Exp Med Biol. 2003;544:281-91. Review. No abstract available.

PMID:
14713242
47.

Dehydroepiandrosterone induction of the Abcd2 and Abcd3 genes encoding peroxisomal ABC transporters: implications for X-linked adrenoleukodystrophy.

Gueugnon F, Lambert F, Gondcaille C, Fourcade S, Bellenger J, Cadepond F, El Etr M, Savary S, Bugaut M.

Adv Exp Med Biol. 2003;544:245. No abstract available.

PMID:
14713237
48.

Thyroid hormone induction of the adrenoleukodystrophy-related gene (ABCD2).

Fourcade S, Savary S, Gondcaille C, Berger J, Netik A, Cadepond F, El Etr M, Molzer B, Bugaut M.

Mol Pharmacol. 2003 Jun;63(6):1296-303.

PMID:
12761339
49.

Fibrate induction of the adrenoleukodystrophy-related gene (ABCD2): promoter analysis and role of the peroxisome proliferator-activated receptor PPARalpha.

Fourcade S, Savary S, Albet S, Gauthé D, Gondcaille C, Pineau T, Bellenger J, Bentejac M, Holzinger A, Berger J, Bugaut M.

Eur J Biochem. 2001 Jun;268(12):3490-500.

50.

In vitro release of gentamicin from beads, an original galenic form, and in vivo efficacy in abdomino-perineal surgery.

Arminot du Chatelet AM, Fourcade S, Atisso MA, de Bouchberg MS, Yakoun M, Varet A, Piedra C.

Pharmazie. 1989 Feb;44(2):131-2.

PMID:
2748695

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