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Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.
Mohren L, Erdlenbruch F, Leitão E, Kilpert F, Hönes GS, Kaya S, Schröder C, Thieme A, Sturm M, Park J, Schlüter A, Ruiz M, Morales de la Prida M, Casasnovas C, Becker K, Roggenbuck U, Pechlivanis S, Kaiser FJ, Synofzik M, Wirth T, Anheim M, Haack TB, Lockhart PJ, Jöckel KH, Pujol A, Klebe S, Timmann D, Depienne C. Mohren L, et al. Among authors: pujol a. Nat Commun. 2024 Sep 3;15(1):7665. doi: 10.1038/s41467-024-52148-1. Nat Commun. 2024. PMID: 39227614 Free PMC article.
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. Fourcade S, et al. Among authors: pujol a. Am J Physiol Endocrinol Metab. 2009 Jan;296(1):E211-21. doi: 10.1152/ajpendo.90736.2008. Epub 2008 Oct 14. Am J Physiol Endocrinol Metab. 2009. PMID: 18854420 Free article.
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. Galino J, et al. Among authors: pujol a. Antioxid Redox Signal. 2011 Oct 15;15(8):2095-107. doi: 10.1089/ars.2010.3877. Epub 2011 Jun 8. Antioxid Redox Signal. 2011. PMID: 21453200 Free PMC article.
503 results