Ana Jorge‐Finnigan

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (<i>cblC</i>) with homocystinuria (MMACHC)

Eva Richard, Ana Jorge‐Finnigan, Judit García‐Villoria et al. · Human Mutation · 2009 · 95 citations

Genetics, Genetic Epidemiology, Human Polymorphism +17

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type

Ana Jorge‐Finnigan, Sandra Brasil, Jarl Underhaug et al. · Human Molecular Genetics · 2013 · 38 citations · Full text

Medicinal Chemistry, Cellular Enzymology, Biochemistry +15

Phenylalanine hydroxylase variants interact with the co‐chaperone DNAJC12

Kunwar Jung‐KC, Nastassja Himmelreich, Karina S. Prestegård et al. · Human Mutation · 2019 · 30 citations

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)

B. Pérez, Ana Jorge‐Finnigan, Eva Richard et al. · Human Mutation · 2009 · 27 citations

Genetics, Rna Splicing, Nephrology +19

Phosphorylation at serine 31 targets tyrosine hydroxylase to vesicles for transport along microtubules

Ana Jorge‐Finnigan, Rune Kleppe, Kunwar Jung‐KC et al. · Journal of Biological Chemistry · 2017 · 27 citations · Full text