DGH - Capítulos (ou partes) de livros
Permanent URI for this collection
Browse
Browsing DGH - Capítulos (ou partes) de livros by Author "Coutinho, Maria Francisca"
Now showing 1 - 2 of 2
Results Per Page
Sort Options
- N-acetylglucosamine-1-phosphate transferase, alpha/beta and gamma subunits; N-acetylglucosamine-1- (GNPTAB, GNPTG)Publication . Coutinho, Maria FranciscaGlcNAc-1-phosphotransferase catalyzes the transfer of a GlcNAc-1-phosphate residue from UDP-GlcNAc to C6 positions of selected mannoses in highmannose- type oligosaccharides of the hydrolases (Goldberg and Kornfeld 1981; Natowicz et al. 1982; Varki and Kornfeld 1983). At a biological level this reaction is followed by the removal of the terminal GlcNAc by an N-acetylglucosamine-1-phosphodiester α-N-acetyl-glucosaminidase, usually referred to as “uncovering enzyme” (UCE; see Chap. 78; Article ID: 332135). Sequential action of these two enzymes results in the formation of the mannose-6-phosphate (Man-6-P) marker, a specific tag acquired by lysosomal hydrolases that ensures recognition by M6P receptors and delivery to the endosomal/lysosomal system (Braulke and Bonifacino 2009).
- RNA Therapeutics: How Far Have We Gone?Publication . Coutinho, Maria Francisca; Matos, Liliana; Santos, Juliana Inês; Alves, SandraIn recent years, the RNA molecule became one of the most promising targets for therapeutic intervention. Currently, a large number of RNA-based therapeutics are being investigated both at the basic research level and in late-stage clinical trials. Some of them are even already approved for treatment. RNA-based approaches can act at pre-mRNA level (by splicing modulation/correction using antisense oligonucleotides or U1snRNA vectors), at mRNA level (inhibiting gene expression by siRNAs and antisense oligonucleotides) or at DNA level (by editing mutated sequences through the use of CRISPR/Cas). Other RNA approaches include the delivery of in vitro transcribed (IVT) mRNA or the use of oligonucleotides aptamers. Here we review these approaches and their translation into clinics trying to give a brief overview also on the difficulties to its application as well as the research that is being done to overcome them.