Listando Ciències de la Salut por fecha de publicación
Mostrando ítems 1-20 de 950
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Blattella germanica has two HMG-CoA synthase genes. Both are regulated in the ovary during the gonadotrophic cycle
(Journal of Biological Chemistry, 1994-04-22)The isoprenoid pathway leads to various essential non-sterol products in insects. These end products have a crucial role in growth, differentiation, sexual maturation, and reproduction. 3-Hydroxy-3-me ... -
Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency
(Journal of Lipid Research, 1996-11)A novel point mutation in the 3-hydroxy-3methyl-glutaryl coenzyme A lyase gene was found in a Turkish patient with homozygous 3-hydroxy-3-methylglutaric acidemia. Amplification by RT-PCR of the mRNA ... -
A two-base deletion in exon 6 of the 3-hydroxy-3- methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3- hydroxy-3-methylglutaric aciduria
(Journal of Lipid Research, 1997)A novel two-base deletion in the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene was found in a Spanish patient with homozygous 3-hydroxy-3-methylglutaric aciduria. Amplification by RT-PCR of the ... -
Population screening for hemochromatosis: a study in 5370 Spanish blood donors
(Journal of Hepatology, 2003)Background/Aims: Hereditary hemochromatosis is associated with homozygosity for C282Y mutation in the HFE gene, elevated serum transferrin saturation and excess iron deposits throughout the body. We ... -
Structural (betaalpha) 8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase
(Journal of Biological Chemistry, 2003)This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in ... -
Identification of conserved amino acid residues in rat liver carnitine palmitoyltransferase I critical for malonyl-CoA inhibition. Mutation of methionine 593 abolishes malonyl-CoA inhibition
(Journal of Biological Chemistry, 2003-03-14)Carnitine palmitoyltransferase (CPT) I, which catalyzes the conversion of palmitoyl-CoA to palmitoylcarnitine facilitating its transport through the mitochondrial membranes, is inhibited by malonyl-CoA. ... -
Potential vasorelaxant effects of oleanolic acid and erythrodiol, two triterpenoids contained in ‘orujo’ olive oil, on rat aorta
(British Journal of Nutrition, 2004)‘Orujo’ olive oil is obtained by chemical processes from the waste resulting from the mechanical extraction of virgin olive oil. The aim of the present study was to evaluate a new pharmacological property ... -
An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice
(Nature Genetics, 2004)Inflammation influences iron balance in the whole organism. A common clinical manifestation of these changes is anemia of chronic disease (ACD; also called anemia of inflammation). Inflammation reduces ... -
The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2
(Endocrine, 2004)We initiated the present work to determine whether the presence of the HFE C282Y or H63D mutations could be related to the clinical expression of diabetes mellitus type 2. Two hundred and twenty five ... -
Superior gluteal nerve: safe area in hip surgery
(Surgical and Radiologic Anatomy, 2004)Injuries to the superior gluteal nerve are very bad complications in hip surgery. An exact knowledge of its course may be helpful in avoiding such problems. Nineteen half pelvises from ten male and ... -
Control of cell cycle progression by the stress-activated Hog1 MAPK
(Cell Cycle, 2005)Activation of the stress-activated Hog1 kinase is essential for cell survival in response to high osmolarity. The Hog1 SAPK elicits the program for cell adaptation that includes modulation of several ... -
Descriptive analysis of cystic fibrosis patients followed by the Pediatric Pulmonology Unit of a university hospital in Porto Alegre-RS
(Scientia Medica, 2006)Aims: To provide a descriptive analysis of patients followed in a local cystic fibrosis treatment center and compare the collected data with those found in the literature. Methods: Relevant data for ... -
Phosphorylation of Hsl1 by Hog1 leads to a G2 arrest essential for cell survival at high osmolarity
(The EMBO Journal, 2006)Control of cell cycle progression by stress‐activated protein kinases (SAPKs) is essential for cell adaptation to extracellular stimuli. Exposure of yeast to osmostress leads to activation of the Hog1 ... -
N-methyl-DD-aspartate blocks activation of JNK and mitochondrial apoptotic pathway induced by potassium deprivation in cerebellar granule cells
(Journal of Biological Chemistry, 2006-03-10)During the postnatal development of cerebellum, lack of excitatory innervation from the mossy fibers results in cerebellar granule cell (CGC) apoptosis during the migration of the cells toward the ... -
Identification of target mRNAs of regulatory RNA-binding proteins using mRNP immunopurification and microarrays
(Nature Protocols, 2007)RNA-binding proteins (RBPs) frequently regulate the post-transcriptional fate of target mRNAs. To identify novel target mRNAs of RBPs, we incubate total RNA with recombinant RBP and immunoselect the ... -
Iron-regulatory proteins limit hypoxia-inducible factor 2α expression in iron deficiency
(Nature Structural & Molecular Biology, 2007)Hypoxia stimulates erythropoiesis, the major iron-utilization pathway. We report the discovery of a conserved, functional iron-responsive element (IRE) in the 5′ untranslated region of the messenger RNA ... -
Informal caregiving: perceived needs
(Nursing Science Quarterly, 2008)With the increasing population of persons over the age of 65 who need daily assistance in Spain, there is considerable need to better understand informal caregivers' views, particularly about the resources ... -
CPT1c is localized in endoplasmic reticulum of neurons and has carnitine palmitoyltransferase activity
(Journal of Biological Chemistry, 2008)CPT1c is a carnitine palmitoyltransferase 1 (CPT1) isoform that is expressed only in the brain. The enzyme has recently been localized in neuron mitochondria. Although it has high sequence identity with ... -
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
(Human Molecular Genetics, 2009)Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with an iron-refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. Here we describe two ...