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Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Natera-de Benito D, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M, Jimenez-Mallebrera C. Milev MP, et al. Among authors: badosa c. Sci Rep. 2019 Oct 1;9(1):14036. doi: 10.1038/s41598-019-50415-6. Sci Rep. 2019. PMID: 31575891 Free PMC article.
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Natera-de Benito D, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M, Jimenez-Mallebrera C. Milev MP, et al. Among authors: badosa c. Sci Rep. 2020 Nov 10;10(1):19770. doi: 10.1038/s41598-020-76436-0. Sci Rep. 2020. PMID: 33173071 Free PMC article.
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency.
de Fuenmayor-Fernández de la Hoz CP, Morís G, Jiménez-Mallebrera C, Badosa C, Hernández-Laín A, Blázquez Encinar A, Martín MÁ, Domínguez-González C. de Fuenmayor-Fernández de la Hoz CP, et al. Among authors: badosa c. Mol Genet Metab Rep. 2021 Jan 6;26:100701. doi: 10.1016/j.ymgmr.2020.100701. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33457207 Free PMC article.
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
Trifunov S, Paredes-Fuentes AJ, Badosa C, Codina A, Montoya J, Ruiz-Pesini E, Jou C, Garrabou G, Grau-Junyent JM, Yubero D, Montero R, Muchart J, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Català A, Garcia-Cazorla À, Jimenez-Mallebrera C, Artuch R. Trifunov S, et al. Among authors: badosa c. Clin Chem. 2021 Aug 5;67(8):1113-1121. doi: 10.1093/clinchem/hvab091. Clin Chem. 2021. PMID: 34352085
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.
López-Márquez A, Morín M, Fernández-Peñalver S, Badosa C, Hernández-Delgado A, Natera-de Benito D, Ortez C, Nascimento A, Grinberg D, Balcells S, Roldán M, Moreno-Pelayo MÁ, Jiménez-Mallebrera C. López-Márquez A, et al. Among authors: badosa c. Int J Mol Sci. 2022 Apr 16;23(8):4410. doi: 10.3390/ijms23084410. Int J Mol Sci. 2022. PMID: 35457228 Free PMC article.
Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies.
Almici E, Chiappini V, López-Márquez A, Badosa C, Blázquez B, Caballero D, Montero J, Natera-de Benito D, Nascimento A, Roldán M, Lagunas A, Jiménez-Mallebrera C, Samitier J. Almici E, et al. Among authors: badosa c. Front Bioeng Biotechnol. 2022 Apr 25;10:851825. doi: 10.3389/fbioe.2022.851825. eCollection 2022. Front Bioeng Biotechnol. 2022. PMID: 35547158 Free PMC article.
Pathological Features in Paediatric Patients with TK2 Deficiency.
Jou C, Nascimento A, Codina A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero R, Natera-de Benito D, Ortez CI, Marquez J, Zelaya MV, Gutierrez-Mata A, Badosa C, Carrera-García L, Expósito-Escudero J, Roldán M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C, Artuch R. Jou C, et al. Among authors: badosa c. Int J Mol Sci. 2022 Sep 20;23(19):11002. doi: 10.3390/ijms231911002. Int J Mol Sci. 2022. PMID: 36232299 Free PMC article.
16 results