Zobrazeno 1 - 7
of 7
pro vyhledávání: '"D. S. Froese"'
Autor:
I. M. Ferreira, Wyatt W. Yue, D. S. Froese, L. Shrestha, T. J. McCorvie, M. Tu, Seungil Han, Paula M. Loria, A. P. Berg
Glycogen synthase (GYS1), in complex with glycogenin (GYG1), is the central enzyme of muscle glycogen biosynthesis, and its inhibition has been proposed as a therapeutic avenue for various glycogen storage diseases (GSDs). GYS1 activity is inhibited
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59da5a15b680c88b18b55d4f27839ec4
https://doi.org/10.1101/2021.11.12.468446
https://doi.org/10.1101/2021.11.12.468446
Autor:
Julia Calzada-Wack, D. S. Froese, Johannes Beckers, Céline Bürer, G. T. Bommer, Jan Rozman, Andres Kaech, M. Forny, Daniel Hoces, J. P. Dewulf, Samuel E. Wuest, Stefan Kölker, M. Lucienne, Patrick Forny, Martin Irmler, Sven W. Sauer, Helmut Fuchs, Juan Antonio Aguilar-Pimentel, Matthias R. Baumgartner, F. Traversi, Birgit Rathkolb, Raffaele Gerlini, V. Gailus-Durner, M Hrabe de Angelis
Inherited disorders of mitochondrial metabolism, including isolated methylmalonic aciduria (MMAuria), present unique challenges to energetic homeostasis by disrupting energy producing pathways. To better understand global responses to energy shortage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f807772e231686f795ef581b2548d2a8
https://www.zora.uzh.ch/id/eprint/213084/
https://www.zora.uzh.ch/id/eprint/213084/
Autor:
Matthias R. Baumgartner, Seraina Lutz, Patricie Burda, Brian Fowler, Wyatt W. Yue, Henry J. Bailey, Apirat Chaikuad, Terttu Suormala, Heuberger K, Céline Bürer, Krysztofinska E, D. S. Froese
Human methylmalonyl-CoA epimerase (MCEE) catalyzes the interconversion of D-methylmalonyl-CoA and L-methylmalonyl-CoA in propionate catabolism. Autosomal recessive mutations inMCEEreportedly cause methylmalonic aciduria (MMAuria) in eleven patients.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dab541ea30977de4a5d7a9b56afe485b
https://www.zora.uzh.ch/id/eprint/181019/
https://www.zora.uzh.ch/id/eprint/181019/
Autor:
Frank H. Niesen, S. Healy, D S Froese, M McDonald, Grazyna Kochan, Udo Oppermann, Roy A. Gravel
Publikováno v:
Molecular Genetics and Metabolism
Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of cellular vitamin B12 metabolism. We previously showed that the protein carrying the mutation responsible for late-onset cblC (MMACHC-R161Q), treatable with high
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e84616d07c511affde84327170e405f
https://doi.org/10.1016/j.ymgme.2010.02.005
https://doi.org/10.1016/j.ymgme.2010.02.005
Autor:
Terttu Suormala, B. A. Andersson, A. Kuster, Matthias R. Baumgartner, David Watkins, Elisabeth Holme, L. Christa, Brian Fowler, Gittan Kollberg, Jorge Asin-Cayuela, David S. Rosenblatt, Seraina Lutz, Céline Bürer, G. Roussey, Patricie Burda, Ola Hjalmarson, D. S. Froese
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2015, 38 (5), pp.863-72. ⟨10.1007/s10545-015-9810-3⟩
Journal of inherited metabolic disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2015, 38 (5), pp.863-72. ⟨10.1007/s10545-015-9810-3⟩
Journal of inherited metabolic disease
International audience; In the folate cycle MTHFD1, encoded by MTHFD1, is a trifunctional enzyme containing 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase activity.
Publikováno v:
Chemical Diagnostics ISBN: 9783642399411
Proteins are macromolecules that serve a cell's myriad processes and functions in all living organisms via dynamic interactions with other proteins, small molecules and cellular components. Genetic variations in the protein-encoding regions of the hu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b960c5d4c12e288a964f65018a8acb9
https://doi.org/10.1007/128_2012_326
https://doi.org/10.1007/128_2012_326
Autor:
Dominique Padovani, C. M. Dobson, John A. Gerlt, Aaron White, Ruma Banerjee, Roy A. Gravel, T. Haller, Xuchu Wu, D. S. Froese, Michael G. Surette
Publikováno v:
Microbiological research. 164(1)
In Escherichia coli, a four-gene operon, sbm-ygfD-ygfG-ygfH, has been shown to encode a putative cobalamin-dependent pathway with the ability to produce propionate from succinate in vitro [Haller T, Buckel T, Retey J, Gerlt JA. Discovering new enzyme