68 documents found, page 1 of 7
Antisense oligonucleotide exon-skipping as a therapeutic approach for a rare di...
Gonçalves, Mariana; Matos, Liliana; Santos, Juliana I.; Coutinho, Maria Francisca; Prata, Maria João; Pires, Maria João; Oliveira, Paula; Omidi, MaryamMucolipidosis II (MLII) is a Lysosomal Storage Disorder caused by the deficiency of the enzyme GlcNAc-1-phosphotransferase, which is responsible for the Mannose- 6-Phosphate marker addition to lysosomal enzymes. Of all MLII mutations, the c.3503_3504delTC in GNPTAB exon 19 is the most frequent, making it a good target for a personalized therapy. Here, we explored an innovative therapeutic strategy based on the ...
Exploring an antisense oligonucleotide exon-skipping therapeutic strategy for M...
Matos, Liliana; Gonçalves, Mariana; Santos, Juliana Inês; Coutinho, Maria Francisca; Prata, Maria João; Omidi, Maryam; Pohl, Sandra; Alves, SandraIntroduction: Mucolipidosis II (ML II) is a Lysosomal Storage Disorder caused by the deficiency of the enzyme GlcNAc-1-phosphotransferase, which is responsible for the Mannose-6-Phosphate marker addition to lysosomal enzymes. Of all ML II mutations, the c.3503_3504delTC in GNPTAB exon 19 is the most frequent, making it a good target for a personalized therapy. Here, we explored an innovative therapeutic strateg...
Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage D...
Santos, Juliana Inês; Gonçalves, Mariana; Matos, Liliana; Moreira, Luciana; Carvalho, Sofia; Prata, Maria João; Coutinho, Maria Francisca; Alves, SandraOver recent decades, the many functions of RNA have become more evident. This molecule has been recognized not only as a carrier of genetic information, but also as a specific and essential regulator of gene expression. Different RNA species have been identified and novel and exciting roles have been unveiled. Quite remarkably, this explosion of novel RNA classes has increased the possibility for new therapeuti...
Complex interactions between p.His558Arg and linked variants in the sodium volt...
Lopes-Marques, Mónica; Silva, Raquel; Serrano, Catarina; Gomes, Verónica; Cardoso, Ana; Prata, Maria João; Amorim, António; Azevedo, LuísaCommon genetic polymorphisms may modify the phenotypic outcome when co-occurring with a disease-causing variant, and therefore understanding their modulating role in health and disease is of great importance. The polymorphic p.His558Arg variant of the sodium voltage-gated channel alpha subunit 5 (NaV1.5) encoded by the SCN5A gene is a case in point, as several studies have shown it can modify the clinical pheno...
The 2020s Tooth Fairy: from loose tooth to neuronal cell cultures, an innovativ...
Carvalho, Sofia; Santos, Juliana Inês; Ribeiro, Diogo; Moreira, Luciana; Duarte, Ana Joana; Encarnação, Marisa; Gaspar, Paulo; Gonçalves, MarianaThe development of adequate in vitro disease models is a major issue in Biomedical Genetics. Those models allow for the initial screening of novel therapeutics and help us get an insight on the cellular mechanisms that underly pathology in each case. In fact, one of the best ways to get those insights is the analysis of patient-derived cells. Yet, not every cell holds potential to recapitulate relevant disease ...
Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage D...
Santos, Juliana Inês; Gonçalves, Mariana; Matos, Liliana; Moreira, Luciana; Carvalho, Sofia; Prata, Maria João; Coutinho, Maria Francisca; Alves, SandraOver recent decades, the many functions of RNA have become more evident. This molecule has been recognized not only as a carrier of genetic information, but also as a specific and essential regulator of gene expression. Different RNA species have been identified and novel and exciting roles have been unveiled. Quite remarkably, this explosion of novel RNA classes has increased the possibility for new therapeuti...
The disease modelling value of baby teeth: A new way to unlock knowledge about ...
Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; Ribeiro, DiogoMucopolysaccharidoses (MPS), are a group of genetic, metabolic, and rare diseases investigated since the early years of the 20th century. One of the first steps to collect information about the underlying mechanisms of those disorders is the development and analysis of in vitro models. Furthermore, those models provide an appropriate platform for the evaluation of future therapeutics. Among all the possible dis...
Development of an antisense oligonucleotides-based therapy for mucolipidosis ty...
Gonçalves, Mariana; Matos, Liliana; Santos, Juliana Inês; Coutinho, Maria Francisca; Prata, Maria João; Pires, Maria João; Oliveira, PaulaIntroduction: The RNA molecule has become an increasingly promising target for the therapy of various diseases. Mucolipidosis type II α/β (ML II α/β) is one of the most severe Lysosomal Storage Disorders and is caused by the deficiency of the enzyme GlcNAc-1- phosphotransferase. This enzyme is responsible for the addition of the mannose 6-phosphate (M6P) marker to lysosomal enzymes, which allow their targeting ...
Antisense oligonucleotide exon-skipping as a therapeutic approach for Mucolipid...
Gonçalves, Mariana; Matos, Liliana; Santos, Juliana Inês; Coutinho, Maria Francisca; Prata, Maria João; Pires, Maria João; Oliveira, PaulaGenetic therapy directed towards the correction of RNA mis-splicing is being investigated at basic research and in late-stage clinical trials. Many mutations that change the normal splicing pattern and lead to aberrant mRNA production have been identified in Lysosomal Storage Disorders (LSDs). Mucopolysaccharidosis IIIC (MPS IIIC) is one of those LSDs caused by mutations in the HGSNAT gene that encodes an enzym...
Antisense oligonucleotide exon-skipping as a therapeutic approach for Mucolipid...
Matos, Liliana; Gonçalves, Mariana; Santos, Juliana Inês; Coutinho, Maria Francisca; Prata, Maria João; Pires, Maria João; Oliveira, PaulaMucolipidosis type II alpha/beta (ML II) is one of the most severe Lysosomal Storage Disorders and is caused by the deficiency of the enzyme GlcNAc-1-phosphotransferase. This enzyme is responsible for the addition of the mannose 6-phosphate marker to lysosomal enzymes, which allow their targeting to lysosomes. Of the several mutations that occur in ML II, the deletion of 2 nucleotides from GNPTAB exon19 (c.3503...