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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. 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
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. Mitochondrion. 2016 Jan;26:72-80. doi: 10.1016/j.mito.2015.12.004. Epub 2015 Dec 11. Mitochondrion. 2016. PMID: 26688339
Differential diagnosis of lipoic acid synthesis defects.
Tort F, Ferrer-Cortes X, Ribes A. Tort F, et al. Among authors: ferrer cortes x. J Inherit Metab Dis. 2016 Nov;39(6):781-793. doi: 10.1007/s10545-016-9975-4. Epub 2016 Sep 1. J Inherit Metab Dis. 2016. PMID: 27586888 Review.
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: ferrer cortes x. Hum Mutat. 2019 Oct;40(10):1700-1712. doi: 10.1002/humu.23779. Epub 2019 May 17. Hum Mutat. 2019. PMID: 31058414
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Tort F, Barredo E, Parthasarathy R, Ugarteburu O, Ferrer-Cortès X, García-Villoria J, Gort L, González-Quintana A, Martín MA, Fernández-Vizarra E, Zeviani M, Ribes A. Tort F, et al. Among authors: ferrer cortes x. Mol Genet Metab. 2020 Nov;131(3):349-357. doi: 10.1016/j.ymgme.2020.10.005. Epub 2020 Oct 13. Mol Genet Metab. 2020. PMID: 33153867
New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.
Musri MM, Venturi V, Ferrer-Cortès X, Romero-Cortadellas L, Hernández G, Leoz P, Ricard Andrés MP, Morado M, Fernández Valle MDC, Beneitez Pastor D, Ortuño Cabrero A, Moreno Gamiz M, Senent Peris L, Perez-Valencia AI, Pérez-Montero S, Tornador C, Sánchez M. Musri MM, et al. Among authors: ferrer cortes x. Int J Mol Sci. 2023 Jun 9;24(12):9935. doi: 10.3390/ijms24129935. Int J Mol Sci. 2023. PMID: 37373084 Free PMC article.
New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation.
Romero-Cortadellas L, Hernández G, Ferrer-Cortès X, Zalba-Jadraque L, Fuster JL, Bermúdez-Cortés M, Galera-Miñarro AM, Pérez-Montero S, Tornador C, Sánchez M. Romero-Cortadellas L, et al. Among authors: ferrer cortes x. Int J Mol Sci. 2022 Apr 15;23(8):4406. doi: 10.3390/ijms23084406. Int J Mol Sci. 2022. PMID: 35457224 Free PMC article.
15 results