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
Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)
Pérez, B, Rincón, A, Jorge-Finnigan, A, Richard, E, Merinero, B, Ugarte, M, Desviat, L.R
Published in Human mutation (01.12.2009)
Published in Human mutation (01.12.2009)
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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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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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Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias: New mutations in MUT , PCCB , BCKDHA and BCKDHB genes
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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Journal Article
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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Journal Article
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
Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease
Pérez, B., Rodríguez-Pombo, P., Ugarte, M., Desviat, L.R.
Published in Molecular syndromology (01.11.2012)
Published in Molecular syndromology (01.11.2012)
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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
Molecular basis of phenylketonuria in Cuba: Mutations in Brief
Desviat, L.R., Pérez, B., Gutierrez, E., Sánchez, A., Barrios, B., Ugarte, M.
Published in Human mutation (01.09.2001)
Published in Human mutation (01.09.2001)
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Journal Article
Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria
Desviat, L.R, Pérez-Cerdá, C, Pérez, B, Esparza-Gordillo, J, Rodrı́guez-Pombo, P, Peñalva, M.A, Rodrı́guez de Córdoba, S, Ugarte, M
Published in Molecular genetics and metabolism (01.11.2003)
Published in Molecular genetics and metabolism (01.11.2003)
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