Isabel Antolin Rivera
PhD (1998) in Pharmacy (Biochemistry), Universidade de Lisboa
Habilitation (2017) in Pharmacy (Cellular and Molecular Biology), Universidade de Lisboa
Assistant Professor, Department of Biochemistry and Human Biology
Faculdade de Farmácia, Universidade de Lisboa — Av. Prof. Gama Pinto, 1649-003 Lisboa, Portugal
Several Inborn Errors of Metabolism (PKU, pyruvate dehydrogenase complex deficiency and classic galactosemia) are used as models to understand disease mechanisms and to develop new treatments. We perform molecular genetics diagnosis, functional/structural characterization of mutant variants and design of appropriate alternative therapies, mainly pharmacological chaperones and antisense oligonucleotides. Studying the effect of epigenetic mechanisms upon the regulation of those genes’ expression may also contribute for developing new treatments.
Pinheiro A, Silva MJ, Florindo C, Pavlu-Pereira H, Barroso M, Marques B, Correia H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I. Data supporting the co-expression of PDHA1 gene and its paralogue PDHA2 in somatic cells of a family. Data in Brief 2016; 9: 68-77.
Pinheiro A, Silva MJ, Florindo C, Pavlu-Pereira H, Barroso M, Marques B, Correia H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I. Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: null mutations in PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells. Gene 2016; 591: 417-24.
Mendes MI, Smith DE, Vicente JB, Tavares De Almeida I, Ben-Omran T, Salomons GS, Rivera I, Leandro P, Blom HJ. Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C. Hum Mol Genet 2015; 24: 7339-48.
Coelho AI, Trabuco M, Silva MJ, Tavares de Almeida I, Leandro P, Rivera I, Vicente JB. A potential role of arginine in the functional improvement of clinically relevant galactose-1-phosphate uridylyltransferase (GALT) variants. JIMD Reports 2015; 23: 1-6.
Coelho AI, Lourenço S, Trabuco M, Silva MJ, Oliveira A, Gaspar A, Diogo L, Tavares de Almeida I, Vicente JB, Rivera I. Functional correction by antisense therapy of a splicing mutation in the GALT gene. Eur J Hum Genet 2015; 23: 500-6.