6 documents found, page 1 of 1
Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients
Pereira, C.; Pérez-Cabezas, B.; Ribeiro, H.; Maia, M.; Cardoso, M.; Dias, A.; Azevedo, O.; Ferreira, M.; Garcia, P.; Rodrigues, E.; Castro-Chaves, P.The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases (LSD), the impact of lysosomal engorgement in human lipid antigen presentation is poorly characterized. Here, we analyzed the capacity of monocyte-derived dendriti...
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxyl...
Ortez, C.; Duarte, Ana Sofia; Ormazábal, A.; Serrano, M.; Pérez, A.; Pons, R.; Pineda, M.; Yapici, Z.; Fernández-Álvarez, E.; Domingo-Jiménez, R.Tyrosine hydroxylase (TH) deficiency is an inborn error of dopamine biosynthesis and a cause of early parkinsonism. Two clinical phenotypes have been described. Type "B": early onset severe encephalopathy; type "A": later onset, less severe and better response to L-dopa. We aimed to study the expression of several key dopaminergic and gabaergic synaptic proteins in the cerebrospinal fluid (CSF) of a series of p...
Assessment of a targeted resequencing assay as a support tool in the diagnosis ...
Fernández-Marmiesse, A.; Morey, M.; Pineda, M.; Eiris, J.; Couce, M.; Castro-Gago, M.; Fraga, J.; Lacerda, L.; Gouveia, S.; Pérez-Poyato, M.BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including phenotype and penetrance variability, shared signs and symptoms, and problems inherent to biochemical diagnosis. Develo...
Molecular characterization of five patients with homocystinuria due to severe m...
Urreizti, R.; Moya-García, A. A.; Pino-Ángeles, A.; Cozar, M.; Langkilde, A.; Fanhoe, U.; Esteves, C.; Arribas, J.; Vilaseca, M.A.; Pérez-Dueñas, B.Methylenetetrahydrofolate reductase (MTHFR) plays a major role in folate metabolism. Disturbed function of the enzyme results in hyperhomocysteinemia and causes severe vascular and neurological disorders and developmental delay. Five patients suspected of having non-classical homocystinuria due to MTHFR deficiency were examined with respect to their symptoms, MTHFR enzyme activity and genotypes of the MTHFR gen...
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipido...
Encarnação, Marisa; Lacerda, Lúcia; Costa, Roberto; Prata, Maria João; Coutinho, Maria Francisca; Ribeiro, Helena; Lopes, Lurdes; Pineda, M.Mucolipidosis II (ML II) and mucolipidosis III (ML III) are diseases in which the activity of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) is absent or reduced, respectively. In the absence of mannose phosphorylation, trafficking of lysosomal hydrolases to the lysosome is impaired. In these diseases, mistargeted lysosomal...
Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate defici...
Ramaekers, V.T.; Sequeira, J.M.; Artuch, R.; Blau, N.; Temudo, T.; Ormazabal, A.; Pineda, M.; Aracil, A.; Roelens, F.; Laccone, F.; Quadros, E.V.Neuropediatrics. 2007 Aug;38(4):179-83. Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome. Ramaekers VT, Sequeira JM, Artuch R, Blau N, Temudo T, Ormazabal A, Pineda M, Aracil A, Roelens F, Laccone F, Quadros EV. Division of Pediatric Neurology, University Hospital Aachen, Germany. vramaekers@skynet.be Abstract Rett syndrome was associated with low cerebrospina...