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Houten S.M.,Mount Sinai School of Medicine | Violante S.,Mount Sinai School of Medicine | Ventura F.V.,Research Institute for Medicines and Pharmaceutical science | Ventura F.V.,University of Lisbon | Wanders R.J.A.,University of Amsterdam
Annual Review of Physiology | Year: 2016

Mitochondrial fatty acid β-oxidation (FAO) is the major pathway for the degradation of fatty acids and is essential for maintaining energy homeostasis in the human body. Fatty acids are a crucial energy source in the postabsorptive and fasted states when glucose supply is limiting. But even when glucose is abundantly available, FAO is a main energy source for the heart, skeletal muscle, and kidney. A series of enzymes, transporters, and other facilitating proteins are involved in FAO. Recessively inherited defects are known for most of the genes encoding these proteins. The clinical presentation of these disorders may include hypoketotic hypoglycemia, (cardio)myopathy, arrhythmia, and rhabdomyolysis and illustrates the importance of FAO during fasting and in hepatic and (cardio)muscular function. In this review, we present the current state of knowledge on the biochemistry and physiological functions of FAO and discuss the pathophysiological processes associated with FAO disorders. Copyright © 2016 by Annual Reviews. All rights reserved.

Da Silva D.,CSIC - Institute of Polymer Science and Technology | Da Silva D.,Research Institute for Medicines and Pharmaceutical science | Samadi A.,CSIC - Institute of Polymer Science and Technology | Chioua M.,CSIC - Institute of Polymer Science and Technology | And 2 more authors.
Synthesis | Year: 2010

The Sandmeyer reaction on some selected heterocycles bearing the 2-amino-3-carbonitrile structural moiety has been investigated in order to prepare the corresponding 2-chloro-3-carbonitrile derivatives as synthetic useful intermediates for further development. © Georg Thieme Verlag Stuttgart.

Esteves M.A.,National Institute of Engineering, Technology and Innovation | Fragiadaki I.,University of Crete | Lopes R.,New University of Lisbon | Lopes R.,Research Institute for Medicines and Pharmaceutical science | And 3 more authors.
Bioorganic and Medicinal Chemistry | Year: 2010

A series of new analogues of trifluralin (TFL) were synthesized and characterized in view of changing the unfavorable properties that limits its use as antileishmanial agent. Some of the TFL analogues display more activity than a standard drug (miltefosine) against the promastigote forms of Leishmania infantum and Leishmania donovani and the intracellular form (THP-1 infected with L. infantum). All analogues showed a clear advantage over miltefosine, as they are not hemolytic. Some analogues can conjugate these characteristics with reduced cell toxicity and improved intracellular activity. © 2009 Elsevier Ltd. All rights reserved.

Ventura F.V.,Research Institute for Medicines and Pharmaceutical science | Ventura F.V.,University of Lisbon | Leandro P.,Research Institute for Medicines and Pharmaceutical science | Leandro P.,University of Lisbon | And 17 more authors.
Clinical Genetics | Year: 2014

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest genetic defect of mitochondrial fatty acid β-oxidation. About 60% of MCADD patients are homozygous for the c.985A>G (p.Lys329Glu) mutation in the ACADM gene (G985 allele). Herein, we present the first report on the molecular and biochemical spectrum of Portuguese MCADD population. From the 109 patients studied, 83 were diagnosed after inclusion of MCADD in the national newborn screening, 8 following the onset of symptoms and 18 through segregation studies. Gypsy ancestry was identified in 85/109 patients. The G985 allele was found in homozygosity in 102/109 patients, in compound heterozygosity in 6/109 and was absent in one patient. Segregation studies in the Gypsy families showed that 93/123 relatives were carriers of the G985 allele, suggesting its high prevalence in this ethnic group. Additionally, three new substitutions-c.218A>G (p.Tyr73Cys), c.503A>T (p.Asp168Val) and c.1205G>T (p.Gly402Val)-were identified. Despite the particularity of the MCADD population investigated, the G985 allele was found in linkage disequilibrium with H1(112) haplotype. Furthermore, two novel haplotypes, H5(212) and H6(122) were revealed. © 2013 John Wiley & Sons A/S.

Colaco R.,University of Lisbon | Goncalves M.C.,University of Lisbon | Goncalves L.M.D.,Research Institute for Medicines and Pharmaceutical science | Almeida A.J.,Research Institute for Medicines and Pharmaceutical science | Martins M.B.,Research Institute for Medicines and Pharmaceutical science
1st Portuguese Meeting in Biomedical Engineering, ENBENG 2011 | Year: 2011

Nanomedicine is an emerging new field combining nanotechnology and medicine. Silica nanoparticles are chemical and biologically inert, optically transparent and can be doped with imaging agents and/or functionalized to promote its conjugation with different therapeutic molecules. Silica nanoparticles can be engineered to improve diagnosis, treatment and follow-up of diseases. A combination of diagnosis devices and therapeutics (theranostics) would be beneficial for patients. In this work, ORMOSIL nanoparticles as non-viral vectors for gene delivery were prepared via a modified Stober sol-gel process directly with 3-aminopropyltriethoxysilane and tetraethylorthosilicate as precursors. Dynamic light scattering, transmission electron microscopy and Fourier transformed infrared spectroscopy were used to characterizing the hybrid nanospheres. Synthesis has been optimized and monodisperse spherical nanoparticles with desired size have been obtained. Nanoparticle-DNA complexes were successfully obtained at different ratios (nanoparticle/pDNA) and confirmed by agarose gel electrophoresis and ethidium bromide exclusion test. © 2011 IEEE.

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