Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias
Stojiljkovic, M., Klaassen, K., Djordjevic, M., Sarajlija, A., Brasil, S., Kecman, B., Grkovic, S., Kostic, J., Rodriguez-Pombo, P., Desviat, L.R., Pavlovic, S., Perez, B.
Published in Clinical genetics (01.09.2016)
Published in Clinical genetics (01.09.2016)
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Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies
Brasil, S., Richard, E., Jorge-Finnigan, A., Leal, F., Merinero, B., Banerjee, R., Desviat, L.R., Ugarte, M., Pérez, B.
Published in Clinical genetics (01.06.2015)
Published in Clinical genetics (01.06.2015)
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Journal Article
Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG
Yuste-Checa, P., Medrano, C., Gámez, A., Desviat, L.R., Matthijs, G., Ugarte, M., Pérez-Cerdá, C., Pérez, B.
Published in Clinical genetics (01.01.2015)
Published in Clinical genetics (01.01.2015)
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Journal Article
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I
Pérez-Carro, R., Sánchez-Alcudia, R., Pérez, B., Navarrete, R., Pérez-Cerdá, C., Ugarte, M., Desviat, L.R.
Published in Clinical genetics (01.08.2014)
Published in Clinical genetics (01.08.2014)
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Journal Article
Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group
Merinero, B., Pérez, B., Pérez-Cerdá, C., Rincón, A., Desviat, L. R., Martínez, M. A., Sala, P. Ruiz, García, M. J., Aldamiz-Echevarría, L., Campos, J., Cornejo, V., del Toro, M., Mahfoud, A., Martínez-Pardo, M., Parini, R., Pedrón, C., Peña-Quintana, L., Pérez, M., Pourfarzam, M., Ugarte, M.
Published in Journal of inherited metabolic disease (01.02.2008)
Published in Journal of inherited metabolic disease (01.02.2008)
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Journal Article
Protein misfolding diseases: Prospects of pharmacological treatment
Gámez, A., Yuste‐Checa, P., Brasil, S., Briso‐Montiano, Á., Desviat, L.R., Ugarte, M., Pérez‐Cerdá, C., Pérez, B.
Published in Clinical genetics (01.03.2018)
Published in Clinical genetics (01.03.2018)
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Journal Article
Proteostasis regulators as potential rescuers of PMM2 activity
Vilas, A., Yuste-Checa, P., Gallego, D., Desviat, L.R., Ugarte, M., Pérez-Cerda, C., Gámez, A., Pérez, B.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.07.2020)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.07.2020)
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Journal Article
Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning
Briso-Montiano, Á., Vilas, A., Richard, E., Ruiz-Sala, P., Morato, E., Desviat, L.R., Ugarte, M., Rodríguez-Pombo, P., Pérez, B.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.09.2022)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.09.2022)
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Journal Article
Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia
Tamayo, M., Fulgencio-Covián, A., Navarro-García, J.A., Val-Blasco, A., Ruiz-Hurtado, G., Gil-Fernández, M., Martín-Nunes, L., Lopez, J.A., Desviat, L.R., Delgado, C., Richard, E., Fernández-Velasco, M.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2020)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2020)
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Journal Article
In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder
Gallego-Villar, L., Rivera-Barahona, A., Cuevas-Martín, C., Guenzel, A., Pérez, B., Barry, M.A., Murphy, M.P., Logan, A., Gonzalez-Quintana, A., Martín, M.A., Medina, S., Gil-Izquierdo, A., Cuezva, J.M., Richard, E., Desviat, L.R.
Published in Free radical biology & medicine (01.07.2016)
Published in Free radical biology & medicine (01.07.2016)
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Journal Article
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts
Pérez-Cerdá, C., Clavero, S., Pérez, B., Rodrı́guez-Pombo, P., Desviat, L.R., Ugarte, M.
Published in Biochimica et biophysica acta (20.05.2003)
Published in Biochimica et biophysica acta (20.05.2003)
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Journal Article
Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type
Richard, E., Brasil, S., Briso-Montiano, A., Alonso-Barroso, E., Gallardo, M.E., Merinero, B., Ugarte, M., Desviat, L.R., Pérez, B.
Published in Stem cell research (01.05.2018)
Published in Stem cell research (01.05.2018)
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Journal Article
Prenatal diagnosis of propionic acidemia
Pérez-Cerdá, C., Pérez, B., Merinero, B., Desviat, L. R., Pombo, P. Rodríguez, Ugarte, M.
Published in Prenatal diagnosis (15.12.2004)
Published in Prenatal diagnosis (15.12.2004)
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Journal Article
Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients
Hamilton, V., Santa María, L., Fuenzalida, K., Morales, P., Desviat, L. R., Ugarte, M., Pérez, B., Cabello, J. F., Cornejo, V.
Published in JIMD Reports, Volume 42 (2018)
Published in JIMD Reports, Volume 42 (2018)
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