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Items: 15

1.

Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.

Jung-Kc K, Himmelreich N, Prestegård KS, Shi TS, Scherer T, Ying M, Jorge-Finnigan A, Thöny B, Blau N, Martinez A.

Hum Mutat. 2019 Apr;40(4):483-494. doi: 10.1002/humu.23712. Epub 2019 Feb 6.

PMID:
30667134
2.

Stabilization of Human Tyrosine Hydroxylase in Maltodextrin Nanoparticles for Delivery to Neuronal Cells and Tissue.

Bezem MT, Johannessen FG, Jung-Kc K, Gundersen ET, Jorge-Finnigan A, Ying M, Betbeder D, Herfindal L, Martinez A.

Bioconjug Chem. 2018 Feb 21;29(2):493-502. doi: 10.1021/acs.bioconjchem.7b00807. Epub 2018 Jan 31.

PMID:
29299922
3.

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

Jorge-Finnigan A, Kleppe R, Jung-Kc K, Ying M, Marie M, Rios-Mondragon I, Salvatore MF, Saraste J, Martinez A.

J Biol Chem. 2017 Aug 25;292(34):14092-14107. doi: 10.1074/jbc.M116.762344. Epub 2017 Jun 21.

4.

Tyrosine Hydroxylase Binding to Phospholipid Membranes Prompts Its Amyloid Aggregation and Compromises Bilayer Integrity.

Baumann A, Jorge-Finnigan A, Jung-Kc K, Sauter A, Horvath I, Morozova-Roche LA, Martinez A.

Sci Rep. 2016 Dec 22;6:39488. doi: 10.1038/srep39488.

5.

Pharmacological Chaperones that Protect Tetrahydrobiopterin Dependent Aromatic Amino Acid Hydroxylases Through Different Mechanisms.

Hole M, Jorge-Finnigan A, Underhaug J, Teigen K, Martinez A.

Curr Drug Targets. 2016;17(13):1515-26. Review.

PMID:
26953246
6.

Erratum to "Discovery of compounds that protect tyrosine hydroxylase activity through different mechanisms" [Biochim. Biophys. Acta 1854/9 (2015) 1078-1089].

Hole M, Underhaug J, Diez H, Ying M, Røhr ÅK, Jorge-Finnigan A, Fernàndez-Castillo N, García-Cazorla A, Kristoffer Andersson K, Teigen K, Martinez A.

Biochim Biophys Acta. 2016 Mar;1864(3):317. doi: 10.1016/j.bbapap.2015.11.008. Epub 2015 Dec 14. No abstract available.

PMID:
28899516
7.

Regulation of tyrosine hydroxylase is preserved across different homo- and heterodimeric 14-3-3 proteins.

Ghorbani S, Fossbakk A, Jorge-Finnigan A, Flydal MI, Haavik J, Kleppe R.

Amino Acids. 2016 May;48(5):1221-9. doi: 10.1007/s00726-015-2157-0. Epub 2016 Jan 29.

8.

Discovery of compounds that protect tyrosine hydroxylase activity through different mechanisms.

Hole M, Underhaug J, Diez H, Ying M, Røhr ÅK, Jorge-Finnigan A, Fernàndez-Castillo N, García-Cazorla A, Andersson KK, Teigen K, Martinez A.

Biochim Biophys Acta. 2015 Sep;1854(9):1078-89. doi: 10.1016/j.bbapap.2015.04.030. Epub 2015 May 8. Erratum in: Biochim Biophys Acta. 2016 Mar;1864(3):317.

PMID:
25960279
9.

Phosphorylation dependence and stoichiometry of the complex formed by tyrosine hydroxylase and 14-3-3γ.

Kleppe R, Rosati S, Jorge-Finnigan A, Alvira S, Ghorbani S, Haavik J, Valpuesta JM, Heck AJ, Martinez A.

Mol Cell Proteomics. 2014 Aug;13(8):2017-30. doi: 10.1074/mcp.M113.035709. Epub 2014 Jun 19.

10.

Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.

Brasil S, Richard E, Jorge-Finnigan A, Leal F, Merinero B, Banerjee R, Desviat LR, Ugarte M, Pérez B.

Clin Genet. 2015 Jun;87(6):576-81. doi: 10.1111/cge.12426. Epub 2014 Jun 6.

11.

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

Jorge-Finnigan A, Brasil S, Underhaug J, Ruíz-Sala P, Merinero B, Banerjee R, Desviat LR, Ugarte M, Martinez A, Pérez B.

Hum Mol Genet. 2013 Sep 15;22(18):3680-9. doi: 10.1093/hmg/ddt217. Epub 2013 May 13.

12.

Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.

Jorge-Finnigan A, Gámez A, Pérez B, Ugarte M, Richard E.

Biochim Biophys Acta. 2010 Nov;1802(11):959-67. doi: 10.1016/j.bbadis.2010.08.002. Epub 2010 Aug 6.

13.

Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.

Jorge-Finnigan A, Aguado C, Sánchez-Alcudia R, Abia D, Richard E, Merinero B, Gámez A, Banerjee R, Desviat LR, Ugarte M, Pérez B.

Hum Mutat. 2010 Sep;31(9):1033-42. doi: 10.1002/humu.21307.

14.

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria).

Pérez B, Rincón A, Jorge-Finnigan A, Richard E, Merinero B, Ugarte M, Desviat LR.

Hum Mutat. 2009 Dec;30(12):1676-82. doi: 10.1002/humu.21118.

PMID:
19862841
15.

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

Richard E, Jorge-Finnigan A, Garcia-Villoria J, Merinero B, Desviat LR, Gort L, Briones P, Leal F, Pérez-Cerdá C, Ribes A, Ugarte M, Pérez B; MMACHC Working Group.

Hum Mutat. 2009 Nov;30(11):1558-66. doi: 10.1002/humu.21107.

PMID:
19760748

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