Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.

Autor: Lucia Abela, Ronen Spiegel, Lisa M Crowther, Andrea Klein, Katharina Steindl, Sorina Mihaela Papuc, Pascal Joset, Yoav Zehavi, Anita Rauch, Barbara Plecko, Thomas Luke Simmons

Publikováno v: PLoS ONE, Vol 12, Iss 5, p e0176363 (2017)

Mitochondrial respiratory chain dysfunction has been identified in a number of neurodegenerative disorders. Infantile cerebellar-retinal degeneration associated with mutations in the mitochondrial aconitase 2 gene (ACO2) has been recently described a

Externí odkaz: https://doaj.org/article/29039edbeca544bdbfd5fbbc95fd005c

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: relevance to pyridoxine-dependent epilepsy

Autor: Lisa M. Crowther, Martin Poms, Martina Zandl‐Lang, Lucia Abela, Hans Hartmann, Michelle Seiler, Déborah Mathis, Barbara Plecko

AIM Deficiency of antiquitin (α-aminoadipic semialdehyde dehydrogenase ), an enzyme involved in lysine degradation and encoded by ALDH7A1, is the major cause of vitamin B6 -dependent epilepsy (PDE-ALDH7A1). Despite seizure control with high dose pyr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e69780bd3b99006172f0e529c13fe5

A novel distal upstream hypoxia response element regulating oxygen-dependent erythropoietin gene expression

Autor: Federica Storti, Sara Santambrogio, Lisa M. Crowther, Teresa Otto, Irene Abreu-Rodríguez, Muriel Kaufmann, Cheng-Jun Hu, Christof Dame, Joachim Fandrey, Roland H. Wenger, David Hoogewijs

Publikováno v: Haematologica, Vol 99, Iss 4 (2014)

Externí odkaz: https://doaj.org/article/8d88a7c6107a4cf3bc6dc172a624b2da

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies

Autor: Karin Beese, Hans Hartmann, Céline Bürer, Anita Rauch, Sorina Mihaela Papuc, Lucia Abela, Nanda M. Verhoeven-Duif, Lisa M. Crowther, Monique Albersen, Eduard A. Struys, Déborah Mathis, Levinus A. Bok, Martin Hersberger, Barbara Plecko

Publikováno v: Mathis, D, Abela, L, Albersen, M, Burer, C, Crowther, L, Beese, K, Hartmann, H, Bok, L A, Struys, E, Papuc, S M, Rauch, A, Hersberger, M, Verhoeven-Duif, N M & Plecko, B 2016, ' The value of plasma vitamin B-6 profiles in early onset epileptic encephalopathies ', Journal of Inherited Metabolic Disease, vol. 39, no. 5, pp. 733-741 . https://doi.org/10.1007/s10545-016-9955-8
Journal of Inherited Metabolic Disease, 39(5), 733-741. Springer Netherlands
Journal of Inherited Metabolic Disease, 39(5), 733–741. Springer Netherlands

BACKGROUND: Recent decades have unravelled the molecular background of a number of inborn errors of metabolism (IEM) causing vitamin B6-dependent epilepsy. As these defects interfere with vitamin B6 metabolism by different mechanisms, the plasma vita

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d815a824003f4bcc7e42b35f96005221
https://doi.org/10.1007/s10545-016-9955-8

N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics

Autor: Lucia Abela, Lisa M. Crowther, Luke Simmons, Heinrich Sticht, Katharina Steindl, Pascal Joset, Déborah Mathis, Alessandra Baumer, Anita Rauch, Massimo Mastrangelo, Barbara Plecko, Bernhard Schmitt, Mihaela S. Papuc

Publikováno v: Journal of Inherited Metabolic Disease. 39:131-137

Clinical metabolomics has emerged as a powerful tool to study human metabolism in health and disease. Comparative statistical analysis of untargeted metabolic profiles can reveal perturbations of metabolite levels in diseases and thus has the potenti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7d92a34a3658a00bd301a28a335f8a
https://doi.org/10.1007/s10545-015-9876-y