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Page 1
Discovery of a novel noniminosugar acid α glucosidase chaperone series.
Xiao J, Westbroek W, Motabar O, Lea WA, Hu X, Velayati A, Zheng W, Southall N, Gustafson AM, Goldin E, Sidransky E, Liu K, Simeonov A, Tamargo RJ, Ribes A, Matalonga L, Ferrer M, Marugan JJ. Xiao J, et al. Among authors: ribes a. J Med Chem. 2012 Sep 13;55(17):7546-59. doi: 10.1021/jm3005543. Epub 2012 Aug 17. J Med Chem. 2012. PMID: 22834902 Free PMC article.
Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds.
Tiscornia G, Vivas EL, Matalonga L, Berniakovich I, Barragán Monasterio M, Eguizábal C, Gort L, González F, Ortiz Mellet C, García Fernández JM, Ribes A, Veiga A, Izpisua Belmonte JC. Tiscornia G, et al. Among authors: ribes a. Hum Mol Genet. 2013 Feb 15;22(4):633-45. doi: 10.1093/hmg/dds471. Epub 2012 Oct 31. Hum Mol Genet. 2013. PMID: 23118351
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
Tort F, Ugarteburu O, Texidó L, Gea-Sorlí S, García-Villoria J, Ferrer-Cortès X, Arias Á, Matalonga L, Gort L, Ferrer I, Guitart-Mampel M, Garrabou G, Vaz FM, Pristoupilova A, Rodríguez MIE, Beltran S, Cardellach F, Wanders RJ, Fillat C, García-Silva MT, Ribes A. Tort F, et al. Among authors: ribes a. Hum Mutat. 2019 Oct;40(10):1700-1712. doi: 10.1002/humu.23779. Epub 2019 May 17. Hum Mutat. 2019. PMID: 31058414
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
Tort F, Ferrer-Cortès X, Thió M, Navarro-Sastre A, Matalonga L, Quintana E, Bujan N, Arias A, García-Villoria J, Acquaviva C, Vianey-Saban C, Artuch R, García-Cazorla À, Briones P, Ribes A. Tort F, et al. Among authors: ribes a. Hum Mol Genet. 2014 Apr 1;23(7):1907-15. doi: 10.1093/hmg/ddt585. Epub 2013 Nov 20. Hum Mol Genet. 2014. PMID: 24256811
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
Ferrer-Cortès X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz JA, Riudor E, del Toro M, Garcia-Cazorla A, Campistol J, Briones P, Ribes A, Tort F. Ferrer-Cortès X, et al. Among authors: ribes a. J Inherit Metab Dis. 2013 Sep;36(5):841-7. doi: 10.1007/s10545-012-9565-z. Epub 2012 Nov 22. J Inherit Metab Dis. 2013. PMID: 23179554
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.
Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou C, O'Callaghan M, Pineda M, Montero R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A, Tort F. Ferrer-Cortès X, et al. Among authors: ribes a. Mitochondrion. 2016 Jan;26:72-80. doi: 10.1016/j.mito.2015.12.004. Epub 2015 Dec 11. Mitochondrion. 2016. PMID: 26688339
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
Matalonga L, Bravo M, Serra-Peinado C, García-Pelegrí E, Ugarteburu O, Vidal S, Llambrich M, Quintana E, Fuster-Jorge P, Gonzalez-Bravo MN, Beltran S, Dopazo J, Garcia-Garcia F, Foulquier F, Matthijs G, Mills P, Ribes A, Egea G, Briones P, Tort F, Girós M. Matalonga L, et al. Among authors: ribes a. Hum Mutat. 2017 Feb;38(2):148-151. doi: 10.1002/humu.23145. Epub 2016 Nov 26. Hum Mutat. 2017. PMID: 27862579
250 results