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Select record 21
ArticlesPeer ReviewedFull Text
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria
Author / Creator:Forny, Patrick ; Plessl, Tanja ; Frei, Caroline ; Bürer, Celine ; Froese, D. Sean ; Baumgartner, Matthias R.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2022-07, Vol.141 (7), p.1253-1267
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ArticlesPeer ReviewedFull Text
Molecular basis for the regulation of human glycogen synthase by phosphorylation and glucose-6-phosphate
Author / Creator:McCorvie, Thomas J. ; Loria, Paula M. ; Tu, Meihua ; Han, Seungil ; Shrestha, Leela ; Froese, D. Sean ; Ferreira, Igor M. ; Berg, Allison P. ; Yue, Wyatt W.
Publisher:New York: Nature Publishing Group US
Journal title:Nature structural & molecular biology, 2022-07, Vol.29 (7), p.628-638
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APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
Author / Creator:Guéant, Jean-Louis ; Chéry, Céline ; Oussalah, Abderrahim ; Nadaf, Javad ; Coelho, David ; Josse, Thomas ; Flayac, Justine ; Robert, Aurélie ; Koscinski, Isabelle ; Gastin, Isabelle ; Filhine-Tresarrieu, Pierre ; Pupavac, Mihaela ; Brebner, Alison ; Watkins, David ; Pastinen, Tomi ; Montpetit, Alexandre ; Hariri, Fadi ; Tregouët, David ; Raby, Benjamin A ; Chung, Wendy K ; Morange, Pierre-Emmanuel ; Froese, D Sean ; Baumgartner, Matthias R ; Benoist, Jean-François ; Ficicioglu, Can ; Marchand, Virginie ; Motorin, Yuri ; Bonnemains, Chrystèle ; Feillet, François ; Majewski, Jacek ; Rosenblatt, David S
Publisher:England
Journal title:Nature communications, 2018-01, Vol.9 (1), p.67-67
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ArticlesPeer ReviewedFull Text
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system
Author / Creator:Burda, Patricie ; Suormala, Terttu ; Heuberger, Dorothea ; Schäfer, Alexandra ; Fowler, Brian ; Froese, D. Sean ; Baumgartner, Matthias R.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-03, Vol.40 (2), p.297-306
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ArticlesPeer ReviewedFull Text
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
Author / Creator:Huemer, Martina ; Mulder-Bleile, Regina ; Burda, Patricie ; Froese, D. Sean ; Suormala, Terttu ; Zeev, Bruria Ben ; Chinnery, Patrick F. ; Dionisi-Vici, Carlo ; Dobbelaere, Dries ; Gökcay, Gülden ; Demirkol, Mübeccel ; Häberle, Johannes ; Lossos, Alexander ; Mengel, Eugen ; Morris, Andrew A. ; Niezen-Koning, Klary E. ; Plecko, Barbara ; Parini, Rossella ; Rokicki, Dariusz ; Schiff, Manuel ; Schimmel, Mareike ; Sewell, Adrian C. ; Sperl, Wolfgang ; Spiekerkoetter, Ute ; Steinmann, Beat ; Taddeucci, Grazia ; Trejo-Gabriel-Galán, Jose M. ; Trefz, Friedrich ; Tsuji, Megumi ; Vilaseca, María Antònia ; von Kleist-Retzow, Jürgen-Christoph ; Walker, Valerie ; Zeman, Jiri ; Baumgartner, Matthias R. ; Fowler, Brian
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-01, Vol.39 (1), p.115-124
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ArticlesPeer ReviewedFull Text
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
Author / Creator:Oussalah, Abderrahim ; Siblini, Youssef ; Hergalant, Sébastien ; Chéry, Céline ; Rouyer, Pierre ; Cavicchi, Catia ; Guerrini, Renzo ; Morange, Pierre-Emmanuel ; Trégouët, David ; Pupavac, Mihaela ; Watkins, David ; Pastinen, Tomi ; Chung, Wendy K. ; Ficicioglu, Can ; Feillet, François ; Froese, D. Sean ; Baumgartner, Matthias R. ; Benoist, Jean-François ; Majewski, Jacek ; Morrone, Amelia ; Rosenblatt, David S. ; Guéant, Jean-Louis
Publisher:London: BioMed Central Ltd
Journal title:Clinical epigenetics, 2022-04, Vol.14 (1), p.52-52, Article 52
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Select record 27
ArticlesPeer ReviewedFull Text
Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes
Author / Creator:Froese, D. Sean ; Gravel, Roy A.
Publisher:Cambridge, UK: Cambridge University Press
Journal title:Expert reviews in molecular medicine, 2010-11, Vol.12, p.e37-e37
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Select record 28
ArticlesPeer ReviewedFull Text
Genetic disorders of vitamin B 12 metabolism: eight complementation groups – eight genes
Author / Creator:Froese, D. Sean ; Gravel, Roy A.
Journal title:Expert reviews in molecular medicine, 2010-11, Vol.12, Article e37
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Select record 29
ArticlesFull Text
Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria
Author / Creator:Simon Denley, Matthew Christopher ; Straub, Monique S ; Marcionelli, Giulio ; Güra, Miriam A ; Penton, David ; Delvendahl, Igor ; Poms, Martin ; Vekeriotaite, Beata ; Cherkaoui, Sarah ; Conte, Federica ; Ferdinand Von Meyenn ; Froese, D Sean ; Baumgartner, Matthias R
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2025-03
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Select record 30
ArticlesFull Text
Dynamic inter-domain transformations mediate the allosteric regulation of human 5, 10-methylenetetrahydrofolate reductase
Author / Creator:Linnea Klara Maryann Blomgren ; Huber, Melanie ; Mackinnon, Sabrina R ; Burer, Celine ; Basle, Arnaud ; Yue, Wyatt W ; Froese, D Sean ; Mccorvie, Thomas J
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2024-01
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Select record 31
ArticlesFull Text
Molecular basis for the regulation of human glycogen synthase by phosphorylation and glucose-6-phosphate
Author / Creator:Mccorvie, Thomas James ; Loria, Paula M ; Tu, Meihua ; Han, Seungil ; Shrestha, Leela ; Froese, D Sean ; Ferreira, Igor M ; Berg, Allison P ; Yue, Wyatt W
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2022-03
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Select record 32
ArticlesFull Text
Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase
Author / Creator:Sokolovskaya, Olga M ; Plessl, Tanja ; Bailey, Henry ; Mackinnon, Sabrina ; Baumgartner, Matthias R ; Yue, Wyatt W ; Froese, D Sean ; Taga, Michiko E
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2020-03
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Select record 33
ArticlesFull Text
Structural basis of human 5,10-methylenetetrahydrofolate reductase (MTHFR) regulation by phosphorylation and S-adenosylmethionine inhibition
Author / Creator:Froese, D Sean ; Kopec, Jola ; Rembeza, Elzbieta ; Gustavo Arruda Bezerra ; Oberholzer, Anselm ; Suormala, Terttu ; Lutz, Seraina ; Chalk, Rod ; Borkowska, Oktawia ; Baumgartner, Matthias ; Wyatt, Yue
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2018-02
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Select record 34
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Genetic, structural, and functional analysis of mutations causing methylmalonyl-CoA epimerase deficiency
Author / Creator:Heuberger, Kathrin ; Bailey, Henry J ; Burda, Patricie ; Chaikuad, Apirat ; Krysztofinska, Ewelina ; Suormala, Terttu ; Buerer, Celine ; Lutz, Seraina ; Fowler, Brian ; Froese, D Sean ; Yue, Wyatt W ; Baumgartner, Matthias R
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2018-11
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Select record 35
ArticlesPeer ReviewedFull Text
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B 12
Author / Creator:Oussalah, Abderrahim ; Siblini, Youssef ; Hergalant, Sébastien ; Chéry, Céline ; Rouyer, Pierre ; Cavicchi, Catia ; Guerrini, Renzo ; Morange, Pierre-Emmanuel ; Trégouët, David ; Pupavac, Mihaela ; Watkins, David ; Pastinen, Tomi ; Chung, Wendy K ; Ficicioglu, Can ; Feillet, François ; Froese, D Sean ; Baumgartner, Matthias R ; Benoist, Jean-François ; Majewski, Jacek ; Morrone, Amelia ; Rosenblatt, David S ; Guéant, Jean-Louis
Publisher:Germany
Journal title:Clinical epigenetics, 2022-04, Vol.14 (1), p.52
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Select record 36
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Author / Creator:Huemer, Martina ; Diodato, Daria ; Martinelli, Diego ; Olivieri, Giorgia ; Blom, Henk ; Gleich, Florian ; Kölker, Stefan ; Kožich, Viktor ; Morris, Andrew A. ; Seifert, Burkhardt ; Froese, D. Sean ; Baumgartner, Matthias R. ; Dionisi-Vici, Carlo ; Alcalde Martin, C. ; Baethmann, M. ; Ballhausen, D. ; Blasco-Alonso, J. ; Boy, N. ; Bueno, M. ; Burgos Peláez, R. ; Cerone, R. ; Chabrol, B. ; Chapman, K. A. ; Couce, M. L. ; Crushell, E. ; Dalmau Serra, J. ; Diogo, L. ; Ficicioglu, C. ; García Jimenez, M. C. ; García Silva, M. T. ; Gaspar, A. M. ; Gautschi, M. ; González-Lamuño, D. ; Gouveia, S. ; Grünewald, S. ; Hendriksz, C. ; Janssen, M. C. H. ; Jesina, P. ; Koch, J. ; Konstantopoulou, V. ; Lavigne, C. ; Lund, A. M. ; Martins, E. G. ; Meavilla Olivas, S. ; Mention, K. ; Mochel, F. ; Mundy, H. ; Murphy, E. ; Paquay, S. ; Pedrón-Giner, C. ; Ruiz Gómez, M. A. ; Santra, S. ; Schiff, M. ; Schwartz, I. V. ; Scholl-Bürgi, S. ; Servais, A. ; Skouma, A. ; Tran, C. ; Vives Piñera, I. ; Walter, J. ; Weisfeld-Adams, J.
Publisher:United States: Blackwell Publishing Ltd
Journal title:Journal of inherited metabolic disease, 2018-09, p.1-19
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Select record 37
ArticlesFull Text
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria
Author / Creator:Lucienne, Marie ; Gerlini, Raffaele ; Rathkolb, Birgit ; Calzada-Wack, Julia ; ny, Patrick ; Wüest, Stephan ; Kaech, Andres ; Traversi, Florian ; ny, Merima ; Bürer, Céline ; Aguilar-Pimentel, Juan 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 ; Martin Hrabe De Angelis
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2021-12
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Showing 21 to 40 of 27 results

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Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria

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Molecular basis for the regulation of human glycogen synthase by phosphorylation and glucose-6-phosphate

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APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

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Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system

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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

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Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12

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Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes

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Genetic disorders of vitamin B 12 metabolism: eight complementation groups – eight genes

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Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria

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Dynamic inter-domain transformations mediate the allosteric regulation of human 5, 10-methylenetetrahydrofolate reductase

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Molecular basis for the regulation of human glycogen synthase by phosphorylation and glucose-6-phosphate

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Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase

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Structural basis of human 5,10-methylenetetrahydrofolate reductase (MTHFR) regulation by phosphorylation and S-adenosylmethionine inhibition

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Genetic, structural, and functional analysis of mutations causing methylmalonyl-CoA epimerase deficiency

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Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B 12

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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

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Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria

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