A. Vilas

Proteostasis regulators as potential rescuers of PMM2 activity.

C. Pérez-Cerdá, M. Ugarte, A. Gámez, 2020, Biochimica et biophysica acta. Molecular basis of disease.

Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning.

E. Richard, M. Ugarte, B. Pérez, 2022, Biochimica et biophysica acta. Molecular basis of disease.

A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones

M. Ugarte, S. Ramón-Maiques, A. Gámez, 2022, Human mutation.

New and potential strategies for the treatment of PMM2-CDG.

B. Pérez, M. Serrano, A. Vilas, 2020, Biochimica et biophysica acta. General subjects.

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures

A. Velázquez‐Campoy, F. del Caño-Ochoa, S. Ramón-Maiques, 2021, Journal of inherited metabolic disease.