المؤلفون: Mathis, Déborah, Koch, Jasmine, Koller, Sophie, Sauter, Kay, Flück, Christa, Uldry, Anne-Christine, Forny, Patrick, Froese, D Sean, Laemmle, Alexander

المصدر: Mathis, Déborah; Koch, Jasmine; Koller, Sophie; Sauter, Kay; Flück, Christa; Uldry, Anne-Christine; Forny, Patrick; Froese, D Sean; Laemmle, Alexander (2024). Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency. Molecular genetics and metabolism reports, 39(101066) Elsevier 10.1016/j.ymgmr.2024.101066

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/193680Test/

الإتاحة: https://doi.org/10.1016/j.ymgmr.2024.101066Test
https://boris.unibe.ch/193680/1/1-s2.0-S2666520424000353-main.pdfTest
https://boris.unibe.ch/193680Test/

المؤلفون: Sokolovskaya, Olga M, Plessl, Tanja, Bailey, Henry, Mackinnon, Sabrina, Baumgartner, Matthias R, Yue, Wyatt W, Froese, D Sean, Taga, Michiko E

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Nutrition, 1.1 Normal biological development and functioning, Underpinning research, Coenzymes, Humans, Kinetics, Methylmalonyl-CoA Mutase, Vitamin B 12, MMUT, Vitamin B-12, Cobamide, Methylmalonyl-CoA mutase, Cobalamin, Methylmalonic aciduria, Vitamin B(12), Biochemistry & Molecular Biology, Biochemistry and cell biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4v76m57tTest

المؤلفون: Forny, Patrick, Bonilla, Ximena, Lamparter, David, Shao, Wenguang, Plessl, Tanja, Frei, Caroline, Bingisser, Anna, Goetze, Sandra, van Drogen, Audrey, Harshman, Keith, Pedrioli, Patrick G A, Howald, Cédric, Poms, Martin, Traversi, Florian, Bürer, Céline, Cherkaoui, Sarah, Morscher, Raphael J, Simmons, Luke, Forny, Merima, Xenarios, Ioannis, Aebersold, Ruedi, Zamboni, Nicola, Rätsch, Gunnar, Dermitzakis, Emmanouil T, Wollscheid, Bernd, Baumgartner, Matthias R, Froese, D Sean

المصدر: Forny, Patrick; Bonilla, Ximena; Lamparter, David; Shao, Wenguang; Plessl, Tanja; Frei, Caroline; Bingisser, Anna; Goetze, Sandra; van Drogen, Audrey; Harshman, Keith; Pedrioli, Patrick G A; Howald, Cédric; Poms, Martin; Traversi, Florian; Bürer, Céline; Cherkaoui, Sarah; Morscher, Raphael J; Simmons, Luke; Forny, Merima; Xenarios, Ioannis; Aebersold, Ruedi; Zamboni, Nicola; Rätsch, Gunnar; Dermitzakis, Emmanouil T; Wollscheid, Bernd; Baumgartner, Matthias R; Froese, D Sean (2023). Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. Nature Metabolism, 5(1):80-95.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/252520/1/36717752.pdfTest; info:pmid/36717752; urn:issn:2522-5812

الإتاحة: https://doi.org/10.5167/uzh-25252010.1038/s42255-022-00720-8Test
https://www.zora.uzh.ch/id/eprint/252520Test/
https://www.zora.uzh.ch/id/eprint/252520/1/36717752.pdfTest

المؤلفون: Lucienne, Marie, Gerlini, Raffaele, Rathkolb, Birgit, Calzada-Wack, Julia, Forny, Patrick, Wueest, Stephan, Kaech, Andres, Traversi, Florian, Forny, Merima, Bürer, Céline, Aguilar-Pimentel, Antonio, Irmler, Martin, Beckers, Johannes, Sauer, Sven, Kölker, Stefan, Dewulf, Joseph P, Bommer, Guido T, Hoces, Daniel, Gailus-Durner, Valerie, Fuchs, Helmut, Rozman, Jan, Froese, D Sean, Baumgartner, Matthias R, de Angelis, Martin Hrabě

المصدر: Lucienne, Marie; Gerlini, Raffaele; Rathkolb, Birgit; Calzada-Wack, Julia; Forny, Patrick; Wueest, Stephan; Kaech, Andres; Traversi, Florian; Forny, Merima; Bürer, Céline; Aguilar-Pimentel, Antonio; Irmler, Martin; Beckers, Johannes; Sauer, Sven; Kölker, Stefan; Dewulf, Joseph P; Bommer, Guido T; Hoces, Daniel; Gailus-Durner, Valerie; Fuchs, Helmut; Rozman, Jan; Froese, D Sean; Baumgartner, Matthias R; de Angelis, Martin Hrabě (2023). Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria. Human Molecular Genetics, 32(17):2717-2734.

مصطلحات موضوعية: Center for Microscopy and Image Analysis, Medical Clinic, 570 Life sciences, biology, 610 Medicine & health, Genetics (clinical), Genetics, Molecular Biology, General Medicine

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/240134/1/ZORA_ddad100.pdfTest; info:pmid/37369025; urn:issn:0964-6906

الإتاحة: https://doi.org/10.5167/uzh-24013410.1093/hmg/ddad100Test
https://www.zora.uzh.ch/id/eprint/240134Test/
https://www.zora.uzh.ch/id/eprint/240134/1/ZORA_ddad100.pdfTest

المؤلفون: McCorvie, Thomas J, Ferreira, Douglas, Yue, Wyatt W, Froese, D Sean

المصدر: McCorvie, Thomas J; Ferreira, Douglas; Yue, Wyatt W; Froese, D Sean (2023). The complex machinery of human cobalamin metabolism. Journal of Inherited Metabolic Disease, 46(3):406-420.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/231135/1/J_of_Inher_Metab_Disea___2023___McCorvie___The_complex_machinery_of_human_cobalamin_metabolism.pdfTest; info:pmid/36680553; urn:issn:0141-8955

الإتاحة: https://doi.org/10.5167/uzh-23113510.1002/jimd.12593Test
https://www.zora.uzh.ch/id/eprint/231135Test/
https://www.zora.uzh.ch/id/eprint/231135/1/J_of_Inher_Metab_Disea___2023___McCorvie___The_complex_machinery_of_human_cobalamin_metabolism.pdfTest

المؤلفون: Ramon, Charlotte, Traversi, Florian, Bürer, Céline, Froese, D. Sean, Stelling, Jörg

المصدر: Journal of Inherited Metabolic Disease, 46 (3)

مصطلحات موضوعية: constraint-based modeling, CRISPR-Cas9, metabolism, methylmalonic aciduria, rare disease

وصف الملف: application/application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/wos/000889184600001; http://hdl.handle.net/20.500.11850/584657Test

الإتاحة: https://doi.org/20.500.11850/584657Test
https://doi.org/10.3929/ethz-b-000584657Test
https://doi.org/10.1002/jimd.12575Test
https://hdl.handle.net/20.500.11850/584657Test

المؤلفون: McCorvie, Thomas J., Ferreira, Douglas, Yue, Wyatt W., Froese, D. Sean

المساهمون: Swiss National Science Foundation

المصدر: Journal of Inherited Metabolic Disease ; volume 46, issue 3, page 406-420 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12593Test

المؤلفون: Blomgren, Linnea K. M., Huber, Melanie, Mackinnon, Sabrina R., Bürer, Céline, Baslé, Arnaud, Yue, Wyatt W., Froese, D. Sean, McCorvie, Thomas J.

المصدر: Nature Communications; 4/15/2024, Vol. 15 Issue 1, p1-13, 13p

المؤلفون: Oussalah, Abderrahim, Siblini, Youssef, Hergalant, Sébastien, Froese, D Sean, Baumgartner, Matthias R

المصدر: Oussalah, Abderrahim; Siblini, Youssef; Hergalant, Sébastien; et al; Froese, D Sean; Baumgartner, Matthias R (2022). Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Clinical Epigenetics, 14:52.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/226511/1/s13148_022_01271_1.pdfTest; info:pmid/35440018; urn:issn:1868-7075

الإتاحة: https://doi.org/10.5167/uzh-22651110.1186/S13148-022-01271-1Test
https://www.zora.uzh.ch/id/eprint/226511Test/
https://www.zora.uzh.ch/id/eprint/226511/1/s13148_022_01271_1.pdfTest

المؤلفون: Kiessling, Eva, Peters, Florian, Ebner, Lynn J A, Merolla, Luca, Samardzija, Marijana, Baumgartner, Matthias R, Grimm, Christian, Froese, D Sean

المصدر: Kiessling, Eva; Peters, Florian; Ebner, Lynn J A; Merolla, Luca; Samardzija, Marijana; Baumgartner, Matthias R; Grimm, Christian; Froese, D Sean (2022). HIF1 and DROSHA are involved in MMACHC repression in hypoxia. BBA - Biochimica et Biophysica Acta, 1866(9):130175.

مصطلحات موضوعية: Ophthalmology Clinic, Medical Clinic, 610 Medicine & health, Molecular Biology, Biochemistry, Biophysics

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/219592/1/Kiessling_2022.pdfTest; info:pmid/35636712; urn:issn:0006-3002

الإتاحة: https://doi.org/10.5167/uzh-21959210.1016/j.bbagen.2022.130175Test
https://www.zora.uzh.ch/id/eprint/219592Test/
https://www.zora.uzh.ch/id/eprint/219592/1/Kiessling_2022.pdfTest