Liliana Matos

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BACKGROUND Mutations affecting RNA splicing represent more than 20% of the mutant alleles in Sanfilippo syndrome type C, a rare lysosomal storage disorder that causes severe neurodegeneration. Many of these mutations are localized in the conserved donor or acceptor splice sites, while few are found in the nearby nucleotides. METHODS In this study we(More)
This data article contains insights into the methodology used for the analysis of three exonic mutations altering the splicing of the IDS gene: c.241C>T, c.257C>T and c.1122C>T. We have performed splicing assays for the wild-type and mutant minigenes corresponding to these substitutions. In addition, bioinformatic predictions of splicing regulatory sequence(More)
Lysosomal storage diseases are a group of rare genetic disorders characterized by the accumulation of storage molecules in late endosomes/lysosomes. Most of them result from mutations in genes encoding for the catabolic enzymes that ensure intralysosomal digestion. Conventional therapeutic options include enzyme replacement therapy, an approach targeting(More)
The Vilariça basin, located northeast Portugal astride a major late-Variscan NNE–SSW reactivated strike-slip fault, is an excellent example of interplate neotectonic activity whose development has been mainly interpreted as a result of left-lateral Ž displacement. Thirty magnetotelluric soundings were carried out in the Sta Comba da VilariçarSampaio region(More)
Lysosomal storage disorders (LSDs) are a group of rare genetic diseases, generally caused by a deficiency of specific lysosomal enzymes, which results in abnormal accumulation of undegraded substrates. The first clinical reports describing what were later shown to be LSDs were published more than a hundred years ago. In general, the history and(More)
Humans have the ability to discern subtle differences in facial expressions. What if multivariate data were represented in the form of a facial expression? Would it be easier to compare data sets? That is the argument behind Chernoff faces, an idea conceived by Herman Chernoff. Traditionally, Chernoff faces are a series of 2D shapes and lines that imitate(More)
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