76 documents found, page 1 of 8

Doenças lisossomais de sobrecarga: da epidemiologia genética ao desenvolvimento...

Proteomics characterization of human uterine samples during reproductive ageing

Nowadays, postponing motherhood has become more common in modern societies. Such decision rises major social and health concerns, as advanced maternal age associates with low fertility, pregnancy complications and a greater need for assisted reproductive techniques. Female reproductive ageing is associated with alterations that are particularly evident in the ovaries. Yet, given the pivotal contribution of the ...

Addressing the role of maternal age on the metabolic profile of the placenta

After the age of 35, during pregnancy, there is an increased risk of impaired placentation. Changes in uterine redox balance seem to play a role in deficient placentation. We hypothesized that this local redox dysregulation has a negative impact on the placenta metabolic profile. Thus, we aimed to study the placenta metabolic profile during reproductive aging and the effect of antioxidant supplementation. Place...

Unveiling uterine senescence and its potential role in age-related female ferti...

Nowadays, infertility is a major topic present in public health discussions due to its increased prevalence worldwide. With time, female infertility rates have increased, mainly, because women are delaying childbearing to their late 30s/early 40s, leading to fertility decline, complications during gestation, and a higher demand for assisted reproductive techniques. Uterine alterations have been pointed out as a...

Proteomics Characterization of Human Uterine Samples During Reproductive Ageing

Addressing the role of maternal age on the metabolic profile of the placenta

Unveiling uterine senescence and its potential role in age-related female ferti...

Antisense oligonucleotide exon-skipping as a therapeutic approach for a rare di...

Mucolipidosis 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 ...

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A K...

Despite extensive research, the links between the accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of mucopolysaccharidoses (MPSs) have yet to be further elucidated. This is particularly true for the neuropathology of these disorders; the neurological symptoms are currently incurable, even in the cases where a disease-specific therapeutic approach...

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A K...

Despite extensive research, the links between the accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of mucopolysaccharidoses (MPSs) have yet to be further elucidated. This is particularly true for the neuropathology of these disorders; the neurological symptoms are currently incurable, even in the cases where a disease-specific therapeutic approach...