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Luísa Romão

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Chemicals & Drugs

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RNA Stability

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Isabel Peixeiro; Cristina Barbosa; Stephen A Liebhaber; Ana Luísa Silva; Angela Inácio; Luísa Romão
Interaction of PABPC1 with the translation initiation complex is critical to the NMD resistance of AUG-proximal nonsense mutations.
Ana Morgado; Ana Luísa Silva; Alexandre Teixeira; Fátima Almeida; Luísa Romão
Unspliced precursors of NMD-sensitive β-globin transcripts exhibit decreased steady-state levels in erythroid cells.
Rute Martins; Daniela Proença; Cristina Barbosa; Paula Faustino; Ana Luísa Silva; Bruno Silva; Luísa Romão
Alternative polyadenylation and nonsense-mediated decay coordinately regulate the human HFE mRNA levels.

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All Publications

2012: Isabel Peixeiro; Cristina Barbosa; Stephen A Liebhaber; Ana Luísa Silva; Angela Inácio; Luísa Romão
Interaction of PABPC1 with the translation initiation complex is critical to the NMD resistance of AUG-proximal nonsense mutations.
Nucleic acids research 2012;40(3):1160-73.
2012: Ana Morgado; Ana Luísa Silva; Alexandre Teixeira; Fátima Almeida; Luísa Romão
Unspliced precursors of NMD-sensitive β-globin transcripts exhibit decreased steady-state levels in erythroid cells.
PloS one 2012;7(6):e38505.
2012: Rute Martins; Daniela Proença; Cristina Barbosa; Paula Faustino; Ana Luísa Silva; Bruno Silva; Luísa Romão
Alternative polyadenylation and nonsense-mediated decay coordinately regulate the human HFE mRNA levels.
PloS one 2012;7(4):e35461.
2009: Ana Luísa Silva; Luísa Romão
The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision?
FEBS letters 2009;583(3):499-505.
2008: Ana Luísa Silva; Patrícia Ribeiro; Angela Inácio; Stephen A Liebhaber; Luísa Romão
Proximity of the poly(A)-binding protein to a premature termination codon inhibits mammalian nonsense-mediated mRNA decay.
RNA (New York, N.Y.) 2008;14(3):563-76.
2008: Rute Martins; Anabela Morais; Alexandra Dias; Isabel Soares; Cristiana Rolão; J L Ducla-Soares; Lígia Braga; Teresa Seixas; Baltazar Nunes; Gabriel Olim; Luísa Romão; João Lavinha; Paula Faustino
Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism.
Journal of human genetics 2008;53(6):524-8.
2007: Ana Morgado; Isabel Picanço; Susana Gomes; Armandina Miranda; Margarida Coucelo; Filomena Seuanes; Maria Teresa Seixas; Luísa Romão; Paula Faustino
Mutational spectrum of delta-globin gene in the Portuguese population.
European journal of haematology 2007;79(5):422-8.
2007: Angela Inácio; Ana Luísa Silva; Ana Morgado; Francisco J C Pereira; João Lavinha; Luísa Romão
Comment on 'Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease'.
European journal of human genetics : EJHG 2007;15(5):533-4; author reply 534.
2007: Susana Gomes; Isabel Picanço; Armandina Miranda; Maria Teresa Seixas; Mafalda Oliveira; Luísa Romão; Paula Faustino
Hb Evora [alpha2-35 (B16), Ser-->Pro], a novel hemoglobin variant associated with an alpha-thalassemia phenotype.
Haematologica 2007;92(2):252-3.
2006: Ana Luísa Silva; Francisco J C Pereira; Ana Morgado; Jian Kong; Rute Martins; Paula Faustino; Stephen A Liebhaber; Luísa Romão
The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context.
RNA (New York, N.Y.) 2006;12(12):2160-70.
2006: Cristina Ferreira; James D Hoyer; Armandina Miranda; Isabel Picanço; Vanda Almendra; Maria Teresa Seixas; Teresa Almeida; Luísa Romão; Paula Faustino
Hemoglobin Loves Park [beta68 (E12) Leu-->Phe]: report of five cases including one originating from a de novo mutation.
American journal of hematology 2006;81(4):256-61.
2006: Francisco J C Pereira; Maria do Céu Silva; Isabel Picanço; Maria Teresa Seixas; Anabela Ferrão; Paula Faustino; Luísa Romão
Human alpha2-globin nonsense-mediated mRNA decay induced by a novel alpha-thalassaemia frameshift mutation at codon 22.
British journal of haematology 2006;133(1):98-102.
2005: Rute Martins; Isabel Picanço; Baltazar Nunes; Luísa Romão; Paula Faustino
HFE gene mutations are extremely rare in Western sub-Saharan Africa.
Annals of hematology 2005;84(10):686-8.
2004: Paula Faustino; Armandina Miranda; Maria do Céu Silva; Cristina Alves; Isabel Picanço; Cristina Ferreira; Maria Teresa Seixas; Francisca Pina; Luísa Romão
Hb Yaoundé [beta134(H12)Val-->Ala] in association with Hb C [beta6(A3)Glu-->Lys] in a Caucasian Portuguese family.
Hemoglobin 2004;28(3):229-35.
2004: Angela Inácio; Ana Luísa Silva; Joana Pinto; Xinjun Ji; Ana Morgado; Fátima Almeida; Paula Faustino; João Lavinha; Stephen A Liebhaber; Luísa Romão
Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.
The Journal of biological chemistry 2004;279(31):32170-80.
2004: Rute Martins; Isabel Picanço; Aidil Fonseca; Lídia Ferreira; Odete Rodrigues; Marília Coelho; Teresa Seixas; Armandina Miranda; Baltazar Nunes; Luciana Costa; Luísa Romão; Paula Faustino
The role of HFE mutations on iron metabolism in beta-thalassemia carriers.
Journal of human genetics 2004;49(12):651-5.
2002: Paula Faustino; Ana Batalha Reis; Helena Feliciano; Lénia Ferrão; Patrícia Pereira; Isabel Picanço; Armandina Miranda; Teresa Seixas; Luísa Romão; Esmeraldina Correia Júnior; João Lavinha
Asymptomatic homozygous deletional beta(0)-thalassemia in an African individual.
American journal of hematology 2002;70(3):232-6.
2002: Paula Faustino; Isabel Picanço; Armandina Miranda; Teresa Seixas; Anabela Ferrão; Anabela Morais; João Lavinha; Luísa Romão
Compound heterozygosity for Hb Spanish town [alpha27(B8)Glu-->Val], Hb S [beta6(A3)Glu-->Val] and the -alpha(3.7kb) thalassemia deletion.
Hemoglobin 2002;26(2):185-9.
2000: Luísa Romão; Angela Inácio; S Santos; M Avila; Paula Faustino; P Pacheco; João Lavinha
Nonsense mutations in the human beta-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation.
Blood 2000;96(8):2895-901.
1998: Paula Faustino; Leonor Osório-Almeida; Luísa Romão; José Barbot; B Fernandes; Benvindo Justiça; João Lavinha
Dominantly transmitted beta-thalassemia arising from the production of several aberrant mRNA species and one abnormal peptide.
Blood 1998;91(2):685-90.