Ana Rivera‐Barahona

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

Auriane Cospain, Ana Rivera‐Barahona, Erwan Dumontet, Blanca Gener et autres

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Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

Asier Iturrate, Ana Rivera‐Barahona, Carmen‐Lisset Flores, Ghada A. Otaify et autres

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Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Denise Horn, Elisa Fernández-Núñez, Ricardo Gomez-Carmona, Ana Rivera‐Barahona et autres

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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal, Ana Rivera‐Barahona et autres

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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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Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations

Ana Rivera‐Barahona, Rosa Navarrete, Raquel García‐Rodríguez, Eva Richard et autres

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Altered Redox Homeostasis in Branched‐Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria

Eva Richard, Lorena Gallego‐Villar, Ana Rivera‐Barahona, Alfonso Oyarzábal et autres

Inborn errors of metabolism (IEMs) are a group of monogenic disorders characterized by dysregulation of the metabolic networks that underlie development and homeostasis. Emerging evidence points to oxidative stress and mitochondrial dysfunction as major contributors to the multiorgan alterations observed in several …

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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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Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia

Ana Rivera‐Barahona, Alejandro Fulgencio-Covián, Celia Pérez‐Cerdá, Ricardo Ramos et autres

miRNome 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 and to identify novel biomarkers and therapeutic targets. PA is a potentially …

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Role of miRNAs in human disease and inborn errors of metabolism

Ana Rivera‐Barahona, Belén Pérez, Eva Richard, Lourdes R. Desviat

MicroRNAs (miRNAs) are short, noncoding RNAs that regulate gene expression posttranscriptionally by base pairing with target messenger RNAs (mRNAs). They are estimated to target ∼60% of all human protein-coding genes and are involved in regulating key physiological processes and intracellular signaling pathways. …

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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

Lorena Gallego‐Villar, Ana Rivera‐Barahona, Carmen Cuevas-Martín, Adam J. Guenzel et autres

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Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man

Ana Rivera‐Barahona, Rocío Sánchez-Alcudia, Hiu Man Viecelli, Véronique Rüfenacht et autres

The following information is missing from the Funding section: This work was supported by Swiss National Science Foundation (grant 310030_153196 to J.H.) and Ministerio de Economía y Competitividad (grant SAF2013-43005-R to LRD). The authors also aknowledge the financial support by the "Rare …