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Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A. Verdura E, et al. Among authors: pujol a. Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. Brain. 2021. PMID: 34415322 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.
PeroxisomeDB 2.0: an integrative view of the global peroxisomal metabolome.
Schlüter A, Real-Chicharro A, Gabaldón T, Sánchez-Jiménez F, Pujol A. Schlüter A, et al. Among authors: pujol a. Nucleic Acids Res. 2010 Jan;38(Database issue):D800-5. doi: 10.1093/nar/gkp935. Epub 2009 Nov 5. Nucleic Acids Res. 2010. PMID: 19892824 Free PMC 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.
473 results