Maria João Silva

TL;DR: In this paper, an equatorial−axial arrangement of the bidentate ligand (axial isomer), in contrast with the precursors, found as the equatorial isomer in the solid and fluxional in solution, was used for the catalytic epoxidation of cyclooctene using tert-butyl hydroperoxide as oxidant.

TL;DR: The results herein described indicate a possible benefit from introducing proteostasis regulators and/or chemical/pharmacological chaperones to prevent the accumulation of protein aggregates, in new avenues of therapeutic research for classic galactosemia.

TL;DR: It is hypothesise that arginine aspartate acts as a chemical or pharmacological chaperone, and suggest amino acid supplementation as a possible therapy in PDHA1 mutations with mild phenotypes, to overcome the metabolic/biochemical changes induced byPDHA1 gene specific mutations associated with mild PDHc phenotypes.

TL;DR: It is revealed that some hGALT variants, previously described to exhibit no detectable activity in vitro, actually present residual activity when determined in vivo, and arginine presents a mutation-specific beneficial effect, particularly on the prevalent p.Q188R and p.K285N variants, which led to hypothesize that it might constitute a promising therapeutic agent in classic galactosemia.

TL;DR: Two locked nucleic acid oligonucleotides, designed to specifically recognize the mutation, successfully restored the constitutive splicing, thus establishing a proof of concept for the application of antisense therapy as an alternative strategy for the clearly insufficient dietary treatment in classic galactosemia.