- Descoberta de drogas
- Doença humana
- Fibrose quística
- Genómica funcional
- Screens
Margarida Amaral
Contactos
Departamento de Química e BioquímicaSala/Gabinete 8.3.66 / 8.3.66
Ext. Principal 28 366 / 28366
Telefone Direto 35121750 08 61
Email msamaral@ciencias.ulisboa.pt
Carreira Docente Universitário
Categoria Professor Catedrático
Indicadores
OrcidPalavras Chave
Keywords
- Descoberta de drogas
- Doença humana
- Fibrose quística
- Genómica funcional
- Screens
Margarida Amaral is Full Professor of Molecular Biology at the Faculty of Sciences, University of Lisboa and Coordinator of BioISI research centre. EMBO member (2014). Habilitation (2006). PhD in Molecular Genetics (1993). BSc in Chemistry/Biochemistry (1983).
MD Amaral’s lab has a major focus on the molecular and cellular mechanisms of biogenesis, traffic and degradation of wt and mutant protein CFTR, which when mutated causes the genetic disease Cystic Fibrosis (CF).
To understand CF mechanisms globally we use transcriptomics, proteomics and functional genomics (functional siRNA screens). Our results translate into the clinic for better CF diagnosis, prognosis and personalized therapies.
- 1. Botelho HM, Uliyakina I, Awatade NT, Proença MC, Tischer C, Sirianant L, Kunzelmann K, Pepperkok P, Amaral MD (2015) Protein Traffic Disorders: an Effective High-Throughput Fluorescence Microscopy Pipeline for Drug Discovery. Sci Rep 5:9038. [PMID: 25762484].
- 2. Almaça J, Faria D, Sousa M, Uliyakina I, Conrad C, Sirianant L, Clarke LA, Martins JP, Santos M, Hériché JK, Huber W, Schreiber R, Pepperkok R, Kunzelmann K, Amaral MD (2013) High-content siRNA screen reveals global ENaC regulators and potential cystic fibrosis therapy targets. Cell 154: 1390-1400. [PMID: 24034256].
- 3. Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Corey M, Ramalho AS, Amaral MD, Dorfman R, Masica DL, Karchin R, Sharma N, Lewis MH, Yu H, Thomas PJ, Millen L, Zielenski, J Patrinos GP, Castellani C, Rommens JM, Penland CM, Cutting GR (2013) Defining the disease-liability of mutations in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 5: 1160-7. [PMID: 23974870].
- 4. Farinha CM, King-Underwood J, Sousa M, Correia AR, Henriques MJ, Roxo-Rosa M, Da Paula AC, Williams J, Hirst S, Gomes CM, Amaral MD (2013) Revertants, Low Temperature, and Correctors Reveal the Mechanism of F508del-CFTR Rescue by VX-809 and Suggest Multiple Agents for Full Correction. Cell Chem Biol 20: 943-55. [PMID: 23890012].
- 5. Roxo-Rosa M, Xu Z, Schmidt A, Neto M, Cai Z, Soares CM, Sheppard DN, Amaral MD (2006) Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms. Proc Natl Acad Sci USA 103: 17891-17896. [PMID: 17098864].
2022-10-26 - Reconhecimento da Investigação de Excelência em Ciências (Faculdade de Ciências da Universidade de Lisboa)