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Lipid antigen presentation by CD1b and CD1d in lysosomal storage disease patients

Pereira, CS; Perez-Cabezas, B; Ribeiro, H; Maia, M; Cardoso, M; Dias, AF; Azevedo, O; Ferreira, M; Garcia, P; Rodrigues, E; Castro-Chaves, P; Martins, E

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, S; Ormazábal, A; Serrano, M; Pérez, A; Pons, R; Pineda, M; Yapici, Z; Fernández-Álvarez, E; Domingo-Jiménez, R; De Castro, P

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...


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