User profiles for M. D. Amaral
 | Margarida AmaralProfessor of Molecular Biology, Faculty of Sciences, University of Lisboa Verified email at fc.ul.pt Cited by 9900 |
Progress in therapies for cystic fibrosis
K De Boeck, MD Amaral - The Lancet Respiratory Medicine, 2016 - thelancet.com
Standard follow-up and symptomatic treatment have allowed most patients with cystic fibrosis
to live to young adulthood. However, many patients still die prematurely from respiratory …
to live to young adulthood. However, many patients still die prematurely from respiratory …
[HTML][HTML] CFTR modulator theratyping: Current status, gaps and future directions
Background New drugs that improve the function of the cystic fibrosis transmembrane
conductance regulator (CFTR) protein with discreet disease-causing variants have been …
conductance regulator (CFTR) protein with discreet disease-causing variants have been …
New pharmacological approaches for cystic fibrosis: promises, progress, pitfalls
… Work in the Amaral lab has been supported by strategic grants PEst-OE/BIA/UI4046/2011
(BioFIG) and FCT/MCTES PTDC/SAU-GMG/122299/2010 from FCT, Portugal, and CFF—…
(BioFIG) and FCT/MCTES PTDC/SAU-GMG/122299/2010 from FCT, Portugal, and CFF—…
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation
of genomic variation into clinical practice. Few of the almost 2,000 variants in the cystic …
of genomic variation into clinical practice. Few of the almost 2,000 variants in the cystic …
[PDF][PDF] Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium
…, MC Leo, HM McLaughlin, Y Akkari, MD Amaral… - The American Journal of …, 2016 - cell.com
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic
evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult…
evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult…
Transcription-dependent spatial arrangements of CFTR and adjacent genes in human cell nuclei
D Zink, MD Amaral, A Englmann, S Lang… - The Journal of cell …, 2004 - rupress.org
We investigated in different human cell types nuclear positioning and transcriptional regulation
of the functionally unrelated genes GASZ, CFTR, and CORTBP2, mapping to adjacent …
of the functionally unrelated genes GASZ, CFTR, and CORTBP2, mapping to adjacent …
TRPC3 channels are necessary for brain-derived neurotrophic factor to activate a nonselective cationic current and to induce dendritic spine formation
MD Amaral, L Pozzo-Miller - Journal of Neuroscience, 2007 - Soc Neuroscience
Brain-derived neurotrophic factor (BDNF) exerts prominent effects on hippocampal neurons,
but the mechanisms that initiate its actions are poorly understood. We report here that BDNF …
but the mechanisms that initiate its actions are poorly understood. We report here that BDNF …
Most F508del-CFTR is targeted to degradation at an early folding checkpoint and independently of calnexin
CM Farinha, MD Amaral - Molecular and cellular biology, 2005 - Taylor & Francis
Biosynthesis and folding of multidomain transmembrane proteins is a complex process.
Structural fidelity is monitored by endoplasmic reticulum (ER) quality control involving the …
Structural fidelity is monitored by endoplasmic reticulum (ER) quality control involving the …
[HTML][HTML] Genomic diagnosis for children with intellectual disability and/or developmental delay
KM Bowling, ML Thompson, MD Amaral, CR Finnila… - Genome medicine, 2017 - Springer
Background Developmental disabilities have diverse genetic causes that must be identified
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …
Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis
…, D Penque, GR Cutting, MD Amaral - American journal of …, 2002 - atsjournals.org
Estimates of the level of transcripts from the cystic fibrosis (CF) transmembrane conductance
regulator (CFTR) gene required to develop a CF phenotype range from 4–20% of normal. …
regulator (CFTR) gene required to develop a CF phenotype range from 4–20% of normal. …