Margarida D. Amaral

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Patrick R. Sosnay, Karen R. Siklosi, Fredrick Van Goor et al. · Nature Genetics · 2013 · 613 citations · Full text

Molecular Physiology, Mendelian Disorder, Genetic Disorder +12

Transcription-dependent spatial arrangements of CFTR and adjacent genes in human cell nuclei

Daniele Zink, Margarida D. Amaral, Andreas Englmann et al. · The Journal of Cell Biology · 2004 · 257 citations · Full text

Unrelated Genes Gasz, Transcription-dependent Spatial Arrangements, Genetics +20

Most F508del-CFTR Is Targeted to Degradation at an Early Folding Checkpoint and Independently of Calnexin

Carlos M. Farinha, Margarida D. Amaral · Molecular and Cellular Biology · 2005 · 195 citations · Full text

Molecular Biology, Molecular Research, Protein Folding +16

Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis

Anabela S. Ramalho, Sebastian Beck, Michelle E. Meyer et al. · American Journal of Respiratory Cell and Molecular Biology · 2002 · 176 citations

Engineering, Inflammatory Lung Disease, Advanced Lung Disease +20

Revertants, Low Temperature, and Correctors Reveal the Mechanism of F508del-CFTR Rescue by VX-809 and Suggest Multiple Agents for Full Correction

Carlos M. Farinha, John King-Underwood, Marisa Sousa et al. · Chemistry & Biology · 2013 · 168 citations

Low Temperature, Molecular Biology, F508del-cftr Rescue +1