Genomes and Genes


Lourdes R Desviat


Country: Spain


  1. Rivera Barahona A, Navarrete R, Garcia Rodriguez R, Richard E, Ugarte M, Perez Cerda C, et al. Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations. Mol Genet Metab. 2018;125:266-275 pubmed publisher
  2. Matos L, Canals I, Dridi L, Choi Y, Prata M, Jordan P, et al. Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations. Orphanet J Rare Dis. 2014;9:180 pubmed publisher
    ..We have assayed two therapeutic strategies for different splicing mutations with promising results for the future applications. ..
  3. Matos L, Gonçalves V, Pinto E, Laranjeira F, Prata M, Jordan P, et al. Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II. Biochim Biophys Acta. 2015;1852:2712-21 pubmed publisher
  4. Gallego Villar L, Rivera Barahona A, Cuevas Martín C, Guenzel A, Perez B, Barry M, et al. 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. Free Radic Biol Med. 2016;96:1-12 pubmed publisher
  5. Rivera Barahona A, Perez B, Richard E, Desviat L. Role of miRNAs in human disease and inborn errors of metabolism. J Inherit Metab Dis. 2017;40:471-480 pubmed publisher
    ..In addition, we summarize recent literature on miRNA studies in inherited metabolic diseases. ..
  6. Rivera Barahona A, Fulgencio Covián A, Perez Cerda C, Ramos R, Barry M, Ugarte M, et al. Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia. Sci Rep. 2017;7:5727 pubmed publisher
    ..Taken together, the results reveal miRNA signatures in PA useful to identify potential biomarkers, to refine the understanding of the molecular mechanisms of this rare disease and, eventually, to improve the management of patients. ..
  7. Rivera Barahona A, Alonso Barroso E, Perez B, Murphy M, Richard E, Desviat L. Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia. Mol Genet Metab. 2017;122:43-50 pubmed publisher
    ..Overall, the results provide in vivo evidence to justify more in depth investigations of antioxidants as adjuvant therapy in PA. ..