Publications by authors named "Loiane Mendonca Abrantes Da Conceicao"
Article Synopsis
- * The disease is linked to mutations in the frataxin (FXN) gene that disrupt iron regulation within cells, causing harmful iron buildup and oxidative stress that lead to neuron death.
- * A study analyzed 226 FXN genetic variants, confirming a majority have harmful effects on protein function, and created a 3D model of FXN to understand significant mutations (I154F and W155R), revealing they disrupt essential protein interactions critical for its maturation. *
