Publications by authors named "Maria Teresa Cardoso"

Article Synopsis
  • * The p.Ala1035Val variant is the most common in Portugal and is linked to a potential SNP (p.Ile858Val) that may affect disease progression.
  • * Research using in vitro models reveals that the p.Ala1035Val variant, especially when combined with p.Ile858Val, shows decreased lysosomal trafficking similar to p.Ile1061Thr, suggesting the need for new therapeutic approaches.
View Article and Find Full Text PDF

Mucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation. MPS II is caused by pathogenic mutations in the gene, leading to deficient activity of the enzyme iduronate-2-sulfatase, which causes dermatan and heparan sulfate storage in the lysosomes. In MPS VI, there is dermatan sulfate lysosomal accumulation due to pathogenic mutations in the gene, leading to arylsulfatase B deficiency.

View Article and Find Full Text PDF

Background: Niemann-Pick type C (NPC, MIM #257220) is a neuro-visceral disease, caused predominantly by pathogenic variants in the NPC1 gene. Here we studied patients with clinical diagnosis of NPC but inconclusive results regarding the molecular analysis.

Methods: We used a Next-Generation Sequencing (NGS)-panel followed by cDNA analysis.

View Article and Find Full Text PDF

Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degrees of severity and a broad phenotypic spectrum, which may overlap with a number of other conditions. While individually rare, as a group LSDs affect a significant number of patients, placing an important burden on affected individuals and their families but also on national health care systems worldwide. Here, we present our results on the use of an in-house customized next-generation sequencing (NGS) panel of genes related to lysosome function as a first-line molecular test for the diagnosis of LSDs.

View Article and Find Full Text PDF

Background, Aims And Methods: The α-galactosidase gene (GLA) c.337T>C/p.Phe113Leu variant was originally described in patients with late-onset cardiac forms of Fabry disease (FD), who had residual α-galactosidase activity.

View Article and Find Full Text PDF