Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Katja S. Brocke"'
Autor:
Nicol C. Voermans, Saskia B. Wortmann, Lihadh Al-Gazali, Eva Morava, Jozef Hertecant, David Kronn, Ralph Fingerhut, Anne Jonge Poerink, Monique van Scherpenzeel, Dirk Lefeber, Nurulamin Abu Bakar, Katja S. Brocke Holmefjord, Federica Conte, Maaike de Vries, Annette Feigenbaum, Ellen Crushell, Stephanie Grunewald, Sunnie Wong, Lars Mørkrid
Publikováno v:
Mol. Genet. Metab. 131, 135-146 (2020)
Molecular Genetics and Metabolism, 131, 1-2, pp. 135-146
Molecular Genetics and Metabolism, 131, 135-146
Molecular Genetics and Metabolism, 131, 1-2, pp. 135-146
Molecular Genetics and Metabolism, 131, 135-146
Contains fulltext : 229474.pdf (Publisher’s version ) (Open Access) Phosphoglucomutase 1 deficiency is a congenital disorder of glycosylation (CDG) with multiorgan involvement affecting carbohydrate metabolism, N-glycosylation and energy production
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e25c4dbc4b7770f0ca7fd5c101e4b08
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60435
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60435
Akademický článek
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Autor:
Miao He, Jozef Hertecant, Jolanta Sykut-Cegielska, Nurulamin Abu Bakar, Sunnie Yan Wai Wong, Francis Bowling, David Nguyen, Stefanie Perez, Tim L. Emmerzaal, Katja S. Brocke Holmefjord, Jaak Jaeken, Kea Crivelly, Gernot Poschet, Dieter Koch, Amanda M. Ackermann, Eva Morava, François Foulquier, Dirk Lefeber, Hana Hansikova, Nicole Peeters, Marit Mork, K. Michael Gibson, Kimiyo Raymond, Therese Gadomski, Graeme Preston, Christian Thiel, Monique van Scherpenzeel, Tomas Honzik, Tamas Kozicz
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine
Genetics in Medicine, 2017, Genetics in Medicine. Official Journal of the American College of Medical Genetics, 19 (11), pp.1226-1235. ⟨10.1038/gim.2017.41⟩
Genetics in Medicine, 19, 11, pp. 1226-1235
Genetics in Medicine, 19, 1226-1235
Genetics in Medicine
Genetics in Medicine, 2017, Genetics in Medicine. Official Journal of the American College of Medical Genetics, 19 (11), pp.1226-1235. ⟨10.1038/gim.2017.41⟩
Genetics in Medicine, 19, 11, pp. 1226-1235
Genetics in Medicine, 19, 1226-1235
Contains fulltext : 181642.pdf (Publisher’s version ) (Closed access) PurposePhosphoglucomutase-1 deficiency is a subtype of congenital disorders of glycosylation (PGM1-CDG). Previous casereports in PGM1-CDG patients receiving oral D-galactose (D-g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0572b9eeab1d0f7388ff8570b693790e
http://europepmc.org/articles/PMC5675745
http://europepmc.org/articles/PMC5675745
Autor:
Tove B. Haaland, Mary Lou Smith, Sarah Bowdin, Katja S. Brocke-Holmefjord, Gunnar Houge, Stephen W. Scherer, Katia J. Sinopoli, Brigitte Gilbert-Dussardier, Emmanuelle Lagrue, Christian R. Marshall, Catherine Vincent-Delorme, Susan Walker, Berge A. Minassian, Vera M. Kalscheuer, Andrea K. Vaags, Cindy Gilles, Radu Harbuz
Publikováno v:
Annals of Neurology. 76:758-764
Synaptic function is central to brain function. Understanding the synapse is aided by studies of patients lacking individual synaptic proteins. Common neurological diseases are genetically complex. Their understanding is likewise simplified by studie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::82cf56b89fde09d108c248929e541e7b
https://doi.org/10.1002/ana.24274
https://doi.org/10.1002/ana.24274
Autor:
Katja S. Brocke Holmefjord, Tomas Honzik, Jaak Jaeken, Lesa J. Beamer, Daisy Rymen, Tamas Kozicz, Dieter Koch, Francis Bowling, Jolanta Sykut-Cegielska, Marit Mork, Thomas Marquardt, Moeen Al-Sayed, Therese Gadomski, Sunnie Yan-Wai Wong, Saskia B. Wortmann, Avraham Zeharia, Dirk Lefeber, Amanda M. Ackermann, Eva Morava, Donald F. Conrad, Miski Mohamed, Charles A. Stanley
Publikováno v:
Journal of Pediatrics, 175, pp. 130-136.e8
Journal of Pediatrics, 175, 130-136.e8
Journal of Pediatrics, 175, 130-136.e8
Contains fulltext : 167712.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To define phenotypic groups and identify predictors of disease severity in patients with phosphoglucomutase-1 deficiency (PGM1-CDG). STUDY DESIGN: We evaluated 27 pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae842651bfeea383a15847741cb79cd6
https://hdl.handle.net/2066/167712
https://hdl.handle.net/2066/167712
Autor:
Hella Luksch, Katja S. Brocke, Andrzej Stepulak, Chrysanthy Ikonomidou, Jenny Marzahn, Kathrin D. Geiger, Christian Staufner, Achim Temme, Gabriele Schackert
Publikováno v:
Scopus-Elsevier
Glutamate is the major excitatory neurotransmitter in the mammalian central nervous system (CNS). Experimental evidence indicates that glutamate receptor antagonists may limit tumor growth. This study explores expression of glutamate receptor subunit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e90e5e7d432b03ab43465a9fcacf881e
https://doi.org/10.4161/cbt.9.6.10898
https://doi.org/10.4161/cbt.9.6.10898
Autor:
Chrysanthy Ikonomidou, Wojciech Rzeski, Hella Luksch, Marco Sifringer, Katja S. Brocke, Christine Gebhardt, Lechoslaw Turski, Ortrud Uckermann, Christian Staufner, Jenny Marzahn, Andrzej Stepulak
Publikováno v:
Histochemistry and Cell Biology. 132:435-445
Emerging evidence suggests a role for glutamate and its receptors in the biology of cancer. This study was designed to systematically analyze the expression of ionotropic and metabotropic glutamate receptor subunits in various human cancer cell lines
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97200af5693c8518eaa0839f76509001
https://doi.org/10.1007/s00418-009-0613-1
https://doi.org/10.1007/s00418-009-0613-1
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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K zobrazení výsledku je třeba se přihlásit.
Autor:
Katja S. Brocke, Matthias W. Hentze, Niels H. Gehring, Andreas E. Kulozik, Gabriele Neu-Yilik
Publikováno v:
Human Molecular Genetics. 11:331-335
Nonsense-mediated decay (NMD) is a phylogenetically widely conserved mechanism that contributes to the fidelity of gene expression. NMD inhibits the accumulation of nonsense- or frameshift-mutated mRNA and thus minimizes the synthesis of truncated pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24376698c959ed0dc38b5043c0ba26c6
https://doi.org/10.1093/hmg/11.3.331
https://doi.org/10.1093/hmg/11.3.331
Autor:
Andrea K, Vaags, Sarah, Bowdin, Mary-Lou, Smith, Brigitte, Gilbert-Dussardier, Katja S, Brocke-Holmefjord, Katia, Sinopoli, Cindy, Gilles, Tove B, Haaland, Catherine, Vincent-Delorme, Emmanuelle, Lagrue, Radu, Harbuz, Susan, Walker, Christian R, Marshall, Gunnar, Houge, Vera M, Kalscheuer, Stephen W, Scherer, Berge A, Minassian
Publikováno v:
Annals of neurology. 76(5)
Synaptic function is central to brain function. Understanding the synapse is aided by studies of patients lacking individual synaptic proteins. Common neurological diseases are genetically complex. Their understanding is likewise simplified by studie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2b47b4b9ecff94384fd71912f416633c
https://pubmed.ncbi.nlm.nih.gov/25223753
https://pubmed.ncbi.nlm.nih.gov/25223753