Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Katja Steinbrücker"'
Autor:
Bigna K. Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Felix Distelmaier, Peter Freisinger, Tobias Geis, Andrea L. Gropman, Johannes Häberle, Julia Hentschel, Bruno Jeandidier, Daniela Karall, Boris Keren, Annick Klabunde-Cherwon, Vassiliki Konstantopoulou, Raimund Kottke, Francesco M. Lasorsa, Christine Makowski, Cyril Mignot, Ruth O’Gorman Tuura, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes A. Mayr, Holger Prokisch, Saskia B. Wortmann
Publikováno v:
Nutrients, Vol 14, Iss 17, p 3605 (2022)
The mitochondrial malate aspartate shuttle system (MAS) maintains the cytosolic NAD+/NADH redox balance, thereby sustaining cytosolic redox-dependent pathways, such as glycolysis and serine biosynthesis. Human disease has been associated with defects
Externí odkaz:
https://doaj.org/article/b0f6a6745c114d6e995f41fa35173885
Autor:
Melanie T. Achleitner, Katja Steinbrücker, Susanne L. Oswald, Elisabeth Göschl, Reginald E. Bittner, Wolfgang M. Schmidt, Elke Tiefenthaler, Emma Hammerl, Anna Eisl, Doris Mayr, Johannes A. Mayr, Saskia B. Wortmann
Publikováno v:
Neuropediatrics.
Objective By loading transfer RNAs with their cognate amino acids, aminoacyl-tRNA synthetases (ARS) are essential for protein translation. Both cytosolic ARS1-deficiencies and mitochondrial ARS2 deficiencies can cause severe diseases. Amino acid supp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee14a60e4da4c55fabc3032863b3f765
https://pubmed.ncbi.nlm.nih.gov/36603837
https://pubmed.ncbi.nlm.nih.gov/36603837
Autor:
Michael Zech, Robert Kopajtich, Katja Steinbrücker, Céline Bris, Naig Gueguen, René G. Feichtinger, Melanie T. Achleitner, Neslihan Duzkale, Maximilien Périvier, Johannes Koch, Harald Engelhardt, Peter Freisinger, Matias Wagner, Theresa Brunet, Riccardo Berutti, Dmitrii Smirnov, Tharsini Navaratnarajah, Richard J.T. Rodenburg, Lynn S Pais, Christina Austin‐Tse, Melanie O'Leary, Sylvia Boesch, Robert Jech, Somayeh Bakhtiari, Sheng Chih Jin, Friederike Wilbert, Michael C Kruer, Saskia B. Wortmann, Matthias Eckenweiler, Johannes A. Mayr, Felix Distelmaier, Robert Steinfeld, Juliane Winkelmann, Holger Prokisch
Publikováno v:
Annals of Neurology, 91, 225-237
Ann Neurol
Annals of Neurology, 91, 2, pp. 225-237
Ann Neurol
Annals of Neurology, 91, 2, pp. 225-237
Contains fulltext : 248231.pdf (Publisher’s version ) (Open Access) OBJECTIVE: ATP synthase (ATPase) is responsible for the majority of ATP production. Nevertheless, disease phenotypes associated with mutations in ATPase subunits are extremely rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf58a23e912f8d39b851e9a8f62fa265
https://doi.org/10.1002/ana.26293
https://doi.org/10.1002/ana.26293
Autor:
Daniela Osinski, Angela Abicht, Regina Trollmann, Katja Steinbrücker, Oliver Rompel, Thomas Leis
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50cafa0d9f9dc763da775f2cdcec704a
https://doi.org/10.1055/s-0038-1676006
https://doi.org/10.1055/s-0038-1676006