Esmeralda Alonso-Barroso

Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia

Esmeralda Alonso-Barroso, Belén Pérez, Eva Richard

Propionic acidemia (PA), one of the most frequent life-threatening organic acidemias, is caused by mutations in either the PCCA or PCCB genes encoding both subunits of the mitochondrial propionyl-CoA carboxylase (PCC) enzyme. Cardiac alterations (hypertrophy, dilated cardiomyopathy, long QT) are one of …

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Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy

Alejandro Fulgencio-Covián, Esmeralda Alonso-Barroso, Adam J. Guenzel, Ana Rivera‐Barahona et autres

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Corrigendum to “Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene” [Stem Cell Research, Volume 38, July 2019, 101469]

Arístides López‐Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, Irene Bravo‐Alonso et autres

We have generated and characterized seven human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) from a single family, including unaffected and affected individuals clinically diagnosed with Autism Spectrum Disorder (ASD). The reprogramming of the PBMCs was …

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Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene

Laura Arribas‐Carreira, Irene Bravo‐Alonso, Arístides López‐Márquez, Esmeralda Alonso-Barroso et autres

A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with nonketotic hyperglycinemia bearing the biallelic changes c.1742C > G (p.Pro581Arg) and c.2368C > T (p.Arg790Trp) in the GLDC gene. Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC …

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Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene

Arístides López‐Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, Irene Bravo‐Alonso et autres

A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has a homozygous mutation (c.1218_1231del14ins12 (p.G407 fs)) in the PCCB gene. Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative …

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Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type

Eva Richard, Sandra Brasil, Alvaro Briso‐Montiano, Esmeralda Alonso-Barroso et autres

Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in …

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Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia

Ana Rivera‐Barahona, Esmeralda Alonso-Barroso, Belén Pérez, Michael P. Murphy et autres

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Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene

Esmeralda Alonso-Barroso, Sandra Brasil, Alvaro Briso‐Montiano, Rosa Navarrete et autres

A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has a homozygous mutation (c.1218_1231del14ins12 (p.G407 fs)) in the PCCB gene. Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative …

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