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Number of items: 10.

Bassila, Christine; Ghemrawi, Rose; Flayac, Justine; Froese, D Sean; Baumgartner, Matthias R; Guéant, Jean-Louis; Coelho, David (2017). Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC. BBA - Biochimica et Biophysica Acta, 1863(1):103-112.

Burda, Patricie; Suormala, Terttu; Heuberger, Dorothea; Schäfer, Alexandra; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2017). Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system. Journal of Inherited Metabolic Disease, 40(2):297-306.

Forny, Patrick; Schnellmann, Anne-Sophie; Buerer, Celine; Lutz, Seraina; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2016). Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. Human Mutation, 37(8):745-754.

Forny, Patrick; Schumann, Anke; Mustedanagic, Merima; Mathis, Déborah; Wulf, Marie-Angela; Nägele, Nadine; Langhans, Claus-Dieter; Zhakupova, Assem; Heeren, Joerg; Scheja, Ludger; Fingerhut, Ralph; Peters, Heidi L; Hornemann, Thorsten; Thony, Beat; Kölker, Stefan; Burda, Patricie; Froese, D Sean; Devuyst, Olivier; Baumgartner, Matthias R (2016). Novel mouse models of methylmalonic aciduria recapitulate phenotypic traits with a genetic dosage effect. Journal of Biological Chemistry, 291(39):20563-20573.

Froese, D Sean; Huemer, Martina; Suormala, Terttu; Burda, Patricie; Coelho, David; Guéant, Jean-Louis; Landolt, Markus A; Kožich, Viktor; Fowler, Brian; Baumgartner, Matthias R (2016). Mutation update and review of severe methylenetetrahydrofolate reductase deficiency. Human Mutation, 37(5):427-438.

Froese, D Sean; Kopec, Jolanta; Fitzpatrick, Fiona; Schuller, Marion; McCorvie, Thomas J; Chalk, Rod; Plessl, Tanja; Fettelschoss, Victoria; Fowler, Brian; Baumgartner, Matthias R; Yue, Wyatt W (2015). Structural insights into the MMACHC-MMADHC protein complex involved in vitamin B12 trafficking. Journal of Biological Chemistry, 290(49):29167-29177.

Froese, D Sean; Michaeli, Amit; McCorvie, Thomas J; Krojer, Tobias; Sasi, Meitav; Melaev, Esther; Goldblum, Amiram; Zatsepin, Maria; Lossos, Alexander; Álvarez, Rafael; Escribá, Pablo V; Minassian, Berge A; von Delft, Frank; Kakhlon, Or; Yue, Wyatt W (2015). Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. Human Molecular Genetics, 24(20):5667-5676.

Burda, Patricie; Schäfer, Alexandra; Suormala, Terttu; Rummel, Till; Bürer, Céline; Heuberger, Dorothea; Frapolli, Michele; Giunta, Cecilia; Sokolová, Jitka; Vlášková, Hana; Kožich, Viktor; Koch, Hans Georg; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2015). Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. Human Mutation, 36(6):611-621.

Forny, Patrick; Froese, D Sean; Suormala, Terttu; Yue, Wyatt W; Baumgartner, Matthias R (2014). Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl-CoA Mutase (MUT) Deficiency. Human Mutation, 35(12):1449-1458.

Jusufi, Jehona; Suormala, Terttu; Burda, Patricie; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2014). Characterization of functional domains of the cblD (MMADHC) gene product. Journal of Inherited Metabolic Disease, 37(5):841-849.

This list was generated on Mon Jul 24 10:43:29 2017 CEST.