Maria João Monteiro dos Santos Ferreira da Silva
PhD (2002) in Pharmacy (Biochemistry), Universidade de Lisboa
Assistant Professor, Biochemistry and Human Biology
Faculdade de Farmácia, Universidade de Lisboa — Av. Prof. Gama Pinto, 1649-003 Lisboa, Portugal
Maria João Silva has been studying Inborn Errors of Metabolism, specifically disorders of energy metabolism associated to Pyruvate Dehydrogenase Complex (PDHc) deficiency and Classical galactosemia. She focused on the development/optimization of methodology allowing PDHc deficiency diagnosis at the biochemical and molecular level. Presently, she is studying the effect of arginine as a chemical chaperone, assisting the correct folding of variant forms of PDHc E1a subunit as a new therapy for the treatment of mild PDHc phenotypes associated with misfolded variants.
Pinheiro A, Silva MJ, Pavlu-Pereira H, Florindo C, 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 mutationa in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells. Gene 2016; 591:417-424.
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 2014 Jul 23.
Pinheiro A, Nunes MJ, Milagre I, Rodrigues E, Silva MJ, Tavares de Almeida I, Rivera I. Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues. PLos One. 2012;7(6):e38076.
Silva MJ, Pinheiro A, Eusébio F, Gaspar A, Tavares de Almeida I, Rivera I. Pyruvate Dehydrogenase deficiency: identification of a novel mutation in PDHA1 gene which responds to amino acid supplementation. Eur J Pediatr 2009;168:17-22.