Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Ana Jorge-Finnigan"'
Autor:
Karina S. Prestegård, Tanja Scherer, Ming Ying, Nenad Blau, Beat Thöny, Aurora Martinez, Ana Jorge-Finnigan, Tie-Jun Sten Shi, Nastassja Himmelreich, Kunwar Jung-KC
Publikováno v:
Human Mutation. 40:483-494
DNAJC12, a type III member of the HSP40/DNAJ family, has been identified as the specific co-chaperone of phenylalanine hydroxylase (PAH) and the other aromatic amino acid hydroxylases. DNAJ proteins work together with molecular chaperones of the HSP7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::969f2baf81ad1f24ac2c2ac7bce59d93
https://doi.org/10.1002/humu.23712
https://doi.org/10.1002/humu.23712
Autor:
Kunwar Jung-KC, Ivan Rios-Mondragon, Ming Ying, Aurora Martinez, Michaël Marie, Ana Jorge-Finnigan, Michael F. Salvatore, Rune Kleppe, Jaakko Saraste
Publikováno v:
Journal of Biological Chemistry
Tyrosine hydroxylase (TH) catalyzes the conversion of L-tyrosine into L-DOPA, which is the rate-limiting step in the synthesis of catecholamines, such as dopamine, in dopaminergergic neurons. Low dopamine levels and death of the dopaminergic neurons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fb14ec932d2b6a72d5f02d7e96d59c9
https://doi.org/10.1074/jbc.m116.762344
https://doi.org/10.1074/jbc.m116.762344
Autor:
Kunwar Jung‐KC, Nastassja Himmelreich, Karina S. Prestegård, Tie‐Jun Sten Shi, Tanja Scherer, Ming Ying, Ana Jorge‐Finnigan, Beat Thöny, Nenad Blau, Aurora Martinez
Publikováno v:
Human Mutation. 40
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29ce7445dded4631ef0f0e2341366742
https://doi.org/10.1002/humu.23727
https://doi.org/10.1002/humu.23727
Publikováno v:
Current Drug Targets. 17:1515-1526
The aromatic amino acid hydroxylase (AAAH) enzyme family includes phenylalanine hydroxylase (PAH), tyrosine hydroxylase (TH) and the tryptophan hydroxylases (TPH1 and TPH2). All four members of the AAAH family require iron, dioxygen and the cofactor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67dd33299a2cdfa6a84f7fd0c73f6f23
https://doi.org/10.2174/1389450117666160307143512
https://doi.org/10.2174/1389450117666160307143512
Autor:
Hector Diez, Jarl Underhaug, Noèlia Fernàndez-Castillo, Angels García-Cazorla, Magnus Hole, Knut Teigen, Aurora Martinez, Kerstin Andersson, Åsmund K. Røhr, Ming Ying, Ana Jorge-Finnigan
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics. 1854:1078-1089
Pharmacological chaperones are small compounds that correct the folding of mutant proteins, and represent a promising therapeutic strategy for misfolding diseases. We have performed a screening of 10,000 compounds searching for pharmacological chaper
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7349e06b31b075fbfb509c833ea45eda
https://doi.org/10.1016/j.bbapap.2015.04.030
https://doi.org/10.1016/j.bbapap.2015.04.030
Autor:
Ming Ying, Maria Teresa Bezem, Aurora Martinez, Lars Herfindal, Didier Betbeder, Edvin Tang Gundersen, Ana Jorge-Finnigan, Fredrik Gullaksen Johannessen, Kunwar Jung-KC
Publikováno v:
Bioconjugate chemistry. 29(2)
Enzyme replacement therapy (ERT) is a therapeutic approach envisioned decades ago for the correction of genetic disorders, but ERT has been less successful for the correction of disorders with neurological manifestations. In this work, we have tested
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31d6fa94c719233d7419a24bf5b1d8ec
https://pubmed.ncbi.nlm.nih.gov/29299922
https://pubmed.ncbi.nlm.nih.gov/29299922
Autor:
Lourdes R. Desviat, Ana Jorge-Finnigan, Sandra Brasil, Eva Richard, F. Leal, Magdalena Ugarte, Ruma Banerjee, Begoña Merinero, Belén Pérez
Publikováno v:
Clinical Genetics. 87:576-581
Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene, which codes for the enzyme adenosine triphosphate (ATP): cobalamin adenosyltransferase (ATR). This study reports differences in the metabolic and disease outcomes of two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fef15fa5f84ff1f6945bc94588b56c21
https://doi.org/10.1111/cge.12426
https://doi.org/10.1111/cge.12426
Autor:
Begoña Merinero, Belén Pérez, Lourdes R. Desviat, Pedro Ruiz-Sala, Ruma Banerjee, Sandra Brasil, Ana Jorge-Finnigan, Aurora Martinez, Jarl Underhaug, Magdalena Ugarte
Publikováno v:
Human Molecular Genetics. 22:3680-3689
Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene. This encodes the enzyme ATP:cob(I)alamin adenosyltransferase (ATR), which converts reduced cob(I)alamin to an active adenosylcobalamin cofactor. We recently reported the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fea382f772929f8155091d1c478f5f57
https://doi.org/10.1093/hmg/ddt217
https://doi.org/10.1093/hmg/ddt217
Autor:
Kunwar Jung-KC, István T. Horváth, Alexander Sauter, Aurora Martinez, Ludmilla A. Morozova-Roche, Ana Jorge-Finnigan, Anne Baumann
Publikováno v:
Scientific Reports
Tyrosine hydroxylase (TH), a rate-limiting enzyme in the synthesis of catecholamine neurotransmitters and hormones, binds to negatively charged phospholipid membranes. Binding to both large and giant unilamellar vesicles causes membrane permeabilizat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ce0dd3b8289bb1a78d05ff60aa0be28
https://doi.org/10.1038/srep39488
https://doi.org/10.1038/srep39488
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1802(11):959-967
An increased reactive oxygen species (ROS) production and apoptosis rate have been associated with several disorders involved in cobalamin metabolism, including isolated methylmalonic aciduria (MMA) cblB type and MMA combined with homocystinuria (MMA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f81cad98392712150a42102f139872f2