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Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia
- A. Rivera-Barahona, A. Fulgencio-Covián, +6 authors L. Desviat
- Biology, Medicine
- Scientific Reports
- 18 July 2017
AbstractmiRNome expression profiling was performed in a mouse model of propionic acidemia (PA) and in patients’ plasma samples to investigate the role of miRNAs in the pathophysiology of the disease… Expand
Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia.
- M. Tamayo, A. Fulgencio-Covián, +9 authors M. Fernández-Velasco
- Medicine, Chemistry
- Biochimica et biophysica acta. Molecular basis of…
Propionic acidemia (PA) is a rare metabolic disease associated with mutations in genes encoding the α and β subunits of the enzyme propionyl-CoA carboxylase. The accumulation of toxic metabolites… Expand
Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.
- A. Fulgencio-Covián, E. Alonso-Barroso, +7 authors L. Desviat
- Translational research : the journal of…
- 27 December 2019
Cardiac alterations (hypertrophic/dilated cardiomyopathy, and rhythm alterations) are one of the major causes of mortality and morbidity in propionic acidemia (PA), caused by the deficiency of the… Expand
Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology.
- A. Fulgencio-Covián, Mar Álvarez, +6 authors E. Richard
- Biology, Medicine
- Stem cell research
- 17 October 2020
Propionic acidemia (PA) is an inherited metabolic disease caused by mutations in the PCCA and PCCB genes. We have previously generated an induced pluripotent stem cell (iPSC) line (UAMi004-A) from a… Expand