Joana holds a BSc in Biology, a MSc in Evolutionary and Developmental Biology and a PhD in Biomedical Sciences from Universidade de Lisboa, Portugal. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells — cells that made up the lining of blood vessels — found in the umbilical cord of newborns.
Loss of the Tpp1 gene is associated with brain inflammation and nerve cell dysfunction, possibly due to oxidative stress — the cellular damage that occurs as a consequence of high levels of ... Read more
Patients experiencing typical symptoms of late-infantile neuronal ceroid lipofuscinoses (LINCL) should be tested for the presence of genetic defects in CLN5 and CLN8, a study says. The findings of the study, ... Read more
Scientists have discovered a new mutation in the CLN3 gene associated with Juvenile Batten disease. The study, “A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis ... Read more
A team of Italian researchers suggests that CLN3 disease, also known as juvenile Batten disease, should be included in the differential diagnosis of people with autophagic vacuolar myopathy (AVM), ... Read more
Genetic mutations in the CLN8 gene block the transport of lysosomal enzymes to lysosomes, the cellular compartments that digest and recycle different types of molecules, directly contributing to the development of ... Read more
Chemical compounds similar to flupirtine can effectively prevent cell death in Batten disease patient-derived cell lines, a study reports. These findings provide the first preclinical evidence pointing toward the therapeutic ... Read more
New Zealand researchers used computed tomography (CT) to measure and monitor brain alterations in sheep models of Batten disease, a study reports. Data revealed that brain atrophy starts in ... Read more