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Sean Froese
Sean Froese
University Children's Hospital, Zurich
Bestätigte E-Mail-Adresse bei kispi.uzh.ch
Titel
Zitiert von
Zitiert von
Jahr
Vitamin B12, folate, and the methionine remethylation cycle—biochemistry, pathways, and regulation
DS Froese, B Fowler, MR Baumgartner
Journal of inherited metabolic disease 42 (4), 673-685, 2019
3222019
Genetic disorders of vitamin B12 metabolism: eight complementation groups-eight genes
DS Froese, RA Gravel
Expert reviews in molecular medicine 12, 2010
1762010
Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation
DS Froese, G Kochan, JRC Muniz, X Wu, C Gileadi, E Ugochukwu, ...
Journal of Biological Chemistry 285 (49), 38204-38213, 2010
1312010
Mutation update and review of severe methylenetetrahydrofolate reductase deficiency
DS Froese, M Huemer, T Suormala, P Burda, D Coelho, JL Guéant, ...
Human mutation 37 (5), 427-438, 2016
1162016
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
JL Guéant, C Chéry, A Oussalah, J Nadaf, D Coelho, T Josse, J Flayac, ...
Nature Communications 9 (1), 67, 2018
832018
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
JL Guéant, C Chéry, A Oussalah, J Nadaf, D Coelho, T Josse, J Flayac, ...
Nature communications 9 (1), 67, 2018
832018
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation
M Riemersma, DS Froese, W van Tol, UF Engelke, J Kopec, ...
Chemistry & biology 22 (12), 1643-1652, 2015
782015
Insights into Severe 5, 10‐Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients
P Burda, A Schäfer, T Suormala, T Rummel, C Bürer, D Heuberger, ...
Human mutation 36 (6), 611-621, 2015
752015
Mechanism of vitamin B 12-responsiveness in cblC methylmalonic aciduria with homocystinuria
DS Froese, J Zhang, S Healy, RA Gravel
Molecular genetics and metabolism 98 (4), 338-343, 2009
692009
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design
DS Froese, A Michaeli, TJ McCorvie, T Krojer, M Sasi, E Melaev, ...
Human molecular genetics 24 (20), 5667-5676, 2015
672015
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
M Huemer, R Mulder-Bleile, P Burda, DS Froese, T Suormala, BB Zeev, ...
Journal of inherited metabolic disease 39, 115-124, 2016
652016
Structural basis for the regulation of human 5, 10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition
DS Froese, J Kopec, E Rembeza, GA Bezerra, AE Oberholzer, ...
Nature communications 9 (1), 2261, 2018
642018
Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐CoA Mutase (MUT) Deficiency
P Forny, DS Froese, T Suormala, WW Yue, MR Baumgartner
Human mutation 35 (12), 1449-1458, 2014
602014
Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder
DS Froese, S Healy, M McDonald, G Kochan, U Oppermann, FH Niesen, ...
Molecular genetics and metabolism 100 (1), 29-36, 2010
602010
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
M Huemer, D Diodato, D Martinelli, G Olivieri, H Blom, F Gleich, S Kölker, ...
Journal of inherited metabolic disease, 1-19, 2018
592018
Conformational plasticity of glycogenin and its maltosaccharide substrate during glycogen biogenesis
A Chaikuad, DS Froese, G Berridge, F von Delft, U Oppermann, WW Yue
Proceedings of the National Academy of Sciences 108 (52), 21028-21033, 2011
562011
Structure of MMACHC reveals an arginine-rich pocket and a domain-swapped dimer for its B12 processing function
DS Froese, T Krojer, X Wu, R Shrestha, W Kiyani, F von Delft, RA Gravel, ...
Biochemistry 51 (25), 5083-5090, 2012
542012
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment
P Burda, A Kuster, O Hjalmarson, T Suormala, C Bürer, S Lutz, G Roussey, ...
Journal of inherited metabolic disease 38 (5), 863-872, 2015
482015
Structural insights into the MMACHC-MMADHC protein complex involved in vitamin B12 trafficking
DS Froese, J Kopec, F Fitzpatrick, M Schuller, TJ McCorvie, R Chalk, ...
Journal of Biological Chemistry 290 (49), 29167-29177, 2015
462015
Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC
C Bassila, R Ghemrawi, J Flayac, DS Froese, MR Baumgartner, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1863 (1), 103-112, 2017
452017
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