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 · 96 citations

Life Sciences, Genetics, Molecular Genetics +16

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

Life Sciences, Biochemistry, Pharmacology +14

Phenylalanine hydroxylase variants interact with the co‐chaperone DNAJC12

Kunwar Jung‐KC, Nastassja Himmelreich, Karina S. Prestegård et al. · Human Mutation · 2019 · 32 citations

Life Sciences, Biochemistry, Genetics +13

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 · 29 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +13

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)

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

Life Sciences, Genetics, Molecular Genetics +14