Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Stefan Koelker"'
Autor:
Stefan Koelker, Gustavo Arruda Bezerra, Wyatt W. Yue, Bianca Dimitrov, W. Foster, Juergen G. Okun, Henry J. Bailey, Kevin G. Hicks, Sven W. Sauer, Jared Rutter
DHTKD1 is a lesser-studied E1 enzyme belonging to the family of 2-oxoacid dehydrogenases. DHTKD1, in complex with the E2 (dihydrolipoamide succinyltransferase, DLST) and E3 (lipoamide dehydrogenase, DLD) components, is implicated in lysine and trypto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c8a16e9d63d7a950481acbae5e813bb
Autor:
Rie Miyata, Hans H. Goebel, Miguel Del Campo, Salwa Al-Kaabi, Caroline Sewry, Georg F. Hoffmann, Peter M. Kroisel, Michael A. Simpson, Enrico Bertini, Stephen Abbs, Heinz Jungbluth, Birgit Brandmeier, Doriette Soler, Jozef Hertecant, Masaharu Hayashi, Carlo Dionisi-Vici, Stefan Koelker, Frances Smith, Shehla Mohammed, Verity M Mcclelland, Christian Koerner, David K. Manchester, Amber E. ten Hoedt, Mohammed Al-Owain, Dragana Josifova, Christian Windpassinger, Shu Yau, Mathias Gautel, Stefan Buk, Francis Filloux, Ay Lin Kho, Istvan Bodi, R. Curtis Rogers, Zoe Urry, Elizabeth Said, Thomas Cullup, Frits A. Wijburg
Publikováno v:
Nature genetics
Nature genetics, 45(1), 83-87. Nature Publishing Group
Nature genetics, 45(1), 83-87. Nature Publishing Group
Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e868ad693d27667d3693f18679daa353
http://europepmc.org/articles/PMC4012842
http://europepmc.org/articles/PMC4012842
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1777:1276-1282
Accumulation of organic acids as well as their CoA and carnitine esters in tissues and body fluids is a common finding in organic acidurias, beta-oxidation defects, Reye syndrome, and Jamaican vomiting sickness. Pathomechanistic approaches for these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc0db1c7e3d60ccae0760922e4d5dd23
https://doi.org/10.1016/j.bbabio.2008.05.447
https://doi.org/10.1016/j.bbabio.2008.05.447
Autor:
Stefan Koelker, Cynthia Le Mons, Marshall L. Summar, Debra Freedenberg, Hye-Seung Lee, Johannes Häberle, Brian Kirmse
Publikováno v:
Molecular Genetics and Metabolism
A key question for urea cycle disorders is their incidence. In the United States two UCDs argininosuccinic synthetase and lyase deficiency are currently detected by newborn screening. We used newborn screening data on over 6. million births and data
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13c7b4174017bc5493e3841642a73a58
https://www.zora.uzh.ch/id/eprint/91945/
https://www.zora.uzh.ch/id/eprint/91945/