Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Céline Bürer"'
Autor:
Linnea K. M. Blomgren, Melanie Huber, Sabrina R. Mackinnon, Céline Bürer, Arnaud Baslé, Wyatt W. Yue, D. Sean Froese, Thomas J. McCorvie
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Abstract 5,10-methylenetetrahydrofolate reductase (MTHFR) commits folate-derived one-carbon units to generate the methyl-donor s-adenosyl-l-methionine (SAM). Eukaryotic MTHFR appends to the well-conserved catalytic domain (CD) a unique regulatory dom
Externí odkaz:
https://doaj.org/article/5004c4b595224327adf73c6b8e9c3779
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 4-10 (2019)
Abstract Familial hypercholesterolemia due to heterozygous low‐density lipoprotein‐receptor mutations is a common inborn errors of metabolism. Secondary hypercholesterolemia due to a defect in phytosterol metabolism is far less common and may esc
Externí odkaz:
https://doaj.org/article/177f2dd0c2564031abc9ca24cf7a37d5
Publikováno v:
Journal of Inherited Metabolic Disease, 46 (3)
Methylmalonyl-coenzyme A (CoA) mutase (MMUT)-type methylmalonic aciduria is a rare inherited metabolic disease caused by the loss of function of the MMUT enzyme. Patients develop symptoms resembling those of primary mitochondrial disorders, but the u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d11d46f5b441cdb97c53790087898ed3
https://hdl.handle.net/20.500.11850/584657
https://hdl.handle.net/20.500.11850/584657
Autor:
Céline Bürer, Viktor Kozich, D. Sean Froese, Jochen Weile, Song Sun, Marinella Gebbia, Nishka Kishore, Robert L. Nussbaum, Iosifina Fotiadou, David Watkins, Alexander Holenstein, Ranim Maaieh, Roujia Li, Michael Garton, Rima Rozen, Linnea Blomgren, Shan Yang, Frederick P. Roth, Yingzhou Wu, Marta Verby, Julia Kitaygorodsky
Publikováno v:
American Journal of Human Genetics
Summary Most rare clinical missense variants cannot currently be classified as pathogenic or benign. Deficiency in human 5,10-methylenetetrahydrofolate reductase (MTHFR), the most common inherited disorder of folate metabolism, is caused primarily by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a1b7fb137ff7cfb59d628fe70d842d6
https://doi.org/10.1016/j.ajhg.2021.05.009
https://doi.org/10.1016/j.ajhg.2021.05.009
MMUT-type methylmalonic aciduria is a rare inherited metabolic disease caused by the loss of function of the methylmalonyl-CoA mutase (MMUT) enzyme. Patients develop symptoms resembling those of primary mitochondrial disorders, but the underlying cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8998a9b091b19f692ad07e79c9e2a18c
https://doi.org/10.1101/2022.08.10.503435
https://doi.org/10.1101/2022.08.10.503435
Autor:
Tanja Plessl, Céline Bürer, Caroline Frei, D. Sean Froese, Patrick Forny, Matthias R. Baumgartner
Pathogenic variants in MMAB cause cblB-type methylmalonic aciduria, an autosomal-recessive disorder of propionate metabolism. MMAB encodes ATP:cobalamin adenosyltransferase, using ATP and cob(I)alamin to create 5’-deoxyadenosylcobalamin (AdoCbl), t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4d3f95258fe9fcb7a54e333f7f68e2b
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 4-10 (2019)
JIMD Reports
JIMD Reports
Familial hypercholesterolemia due to heterozygous low‐density lipoprotein‐receptor mutations is a common inborn errors of metabolism. Secondary hypercholesterolemia due to a defect in phytosterol metabolism is far less common and may escape diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3239c62df7c794e1224efd2d2952386a
https://doaj.org/article/177f2dd0c2564031abc9ca24cf7a37d5
https://doaj.org/article/177f2dd0c2564031abc9ca24cf7a37d5
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:
Alexander Holenstein, W. Foster, Arindam Talukdar, D. Sean Froese, Bing Xie, Wyatt W. Yue, Gustavo Arruda Bezerra, Céline Bürer, Debomita Bhattacharya, Lei Shi, Seraina Lutz, Ayan Mukherjee, Kevin G. Hicks, Jared Rutter, Peter Brown, Minkui Luo, Dipika Sarkar
Publikováno v:
Biochimie
The folate and methionine cycles, constituting one-carbon metabolism, are critical pathways for cell survival. Intersecting these two cycles, 5,10-methylenetetrahydrofolate reductase (MTHFR) directs one-carbon units from the folate to methionine cycl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef61fcca8498f1f66e36e94dcc833f49
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
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
https://doi.org/10.1007/s10545-016-9955-8