Publications by authors named "Renata V Barbosa"
Article Synopsis
- - Transthyretin (TTR) is a protein involved in several amyloid diseases, with more than 100 variants affecting its stability and promoting aggregation, particularly in cases like senile amyloidosis.
- - A Brazilian patient with severe cardiomyopathy carries a rare mutation (A19D) in the TTR gene, which was analyzed using computational modeling to assess its stability compared to known variants.
- - The study found that the A19D variant shows decreased stability and increased amyloidogenicity due to structural changes and unfavorable charges within the protein, marking it as the first non-V30M mutation reported in Brazil.
