Jose Carlos Segovia

This study shows that PKLR-deficient erythrocytes, due to metabolic rigidity, resist Plasmodium yoelii infection by maintaining mechanical properties that hinder parasite-induced membrane changes.

This study uses gene editing in hematopoietic stem cells to treat Pyruvate Kinase Deficiency Hemolytic Anemia, restoring RPK function and ATP levels in erythroid cells.

This study transplants HD patient-derived neurons into mice to observe in vivo degeneration and identifies mechanisms of disease propagation.