D. Sean Froese - Dissemin

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All papers authored by D. Sean Froese

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2020 Marie Lucienne, Juan Antonio Aguilar-Pimentel, Oana V. Amarie, Lore Becker

ORCID

, Julia Calzada-Wack, Patricia da Silva-Buttkus, Lillian Garrett, Sabine M. Hölter, Philipp Mayer-Kuckuk, Birgit Rathkolb, Jan Rozman, Nadine Spielmann, Irina Treise, Dirk H. Busch, Thomas Klopstock and 11 other authors

In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria

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2019 Martina Huemer, Daria Diodato, Diego Martinelli, Giorgia Olivieri, Henk Blom, Burkhardt Seifert, Florian Gleich, D. Sean Froese

ORCID

, Stefan Kölker, Viktor Kožich, Andrew A. Morris, D. Sean Froese, Matthias R. Baumgartner, C. Alcalde Martin, Martina Baethmann and 49 other authors

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

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D. Sean Froese

ORCID

, Brian Fowler, Matthias R. Baumgartner

Vitamin B12 , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation

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2018 D. Sean Froese

ORCID

, Jolanta Kopec, Elzbieta Rembeza, Gustavo Arruda Bezerra

ORCID

, Anselm Erich Oberholzer, Terttu Suormala, Seraina Lutz, Rod Chalk, Oktawia Borkowska, Matthias R. Baumgartner

ORCID

ORCID

Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition

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Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah

ORCID

, Javad Nadaf, David Coelho

ORCID

, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen and 16 other authors

Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

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Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah

ORCID

, Javad Nadaf, David Coelho

ORCID

, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen and 16 other authors

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

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2017 Christine Bassila, Rose Ghemrawi, Justine Flayac

ORCID

, D. Sean Froese

ORCID

, Matthias R. Baumgartner

ORCID

, Jean-Louis Guéant, David Coelho

ORCID

Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC

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2016 Patricie Burda, Terttu Suormala, Dorothea Heuberger, Alexandra Schäfer, Brian Fowler, D. Sean Froese

ORCID

, Matthias R. Baumgartner

ORCID

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

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Patrick Forny, Anne-Sophie Schnellmann, Celine Buerer, Seraina Lutz, Brian Fowler, D. Sean Froese

ORCID

, Matthias R. Baumgartner

ORCID

Molecular Genetic Characterization of 151Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations inMUT

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Patrick Forny

ORCID

, Merima Mustedanagic, Anke Schumann, Déborah Mathis, Marie-Angela Wulf, Claus-Dieter Langhans, Nadine Nägele, Assem Zhakupova, Joerg Heeren, Ludger Scheja, Ralph Fingerhut, Thorsten Hornemann, Heidi L. Peters, Stefan Kölker, Beat Thony and 4 other authors

Novel mouse models of methylmalonic aciduria recapitulate phenotypic traits with a genetic dosage effect

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D. Sean Froese

ORCID

, Martina Huemer

ORCID

, Terttu Suormala, Patricie Burda, David Coelho, Jean-Louis Guéant, Viktor Kožich, Markus A. Landolt, Matthias R. Baumgartner, Brian Fowler

Mutation update and review of severe methylenetetrahydrofolate reductase deficiency

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2015 Moniek Riemersma, D. Sean Froese

ORCID

, Walinka van Tol, Udo F. Engelke, Jolanta Kopec, Monique van Scherpenzeel

ORCID

, Angel Ashikov, Tobias Krojer, Frank von Delft, Marco Tessari, Anna Buczkowska, Ewa Swiezewska, Lucas T. Jae, Thijn R. Brummelkamp, Hiroshi Manya and 4 other authors

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.

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D. Sean Froese, D. Sean Froese

ORCID

, Amit Michaeli, Thomas J. Mccorvie, Tobias Krojer, Meitav Sasi, Esther Melaev, Amiram Goldblum, Maria Zatsepin, Alexander Lossos, Rafael Álvarez, Pablo V. Escribá, Berge A. Minassian, Frank von Delft, Or Kakhlon and 1 other authors

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design

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Martina Huemer

ORCID

, Regina Mulder-Bleile, Patricie Burda, D. Sean Froese, D. Sean Froese

ORCID

, Terttu Suormala, Bruria Ben Zeev, Patrick F. Chinnery, Carlo Dionisi-Vici, Dries Dobbelaere, Gülden Gökcay, Mübeccel Demirkol, Johannes Häberle, Alexander Lossos, Eugen Mengel and 21 other authors

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

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Patricie Burda, Alexandra Schäfer, Terttu Suormala, Till Rummel, Céline Bürer, Dorothea Heuberger, Michele Frapolli, Cecilia Giunta, Jitka Sokolová, Hana Vlášková, Viktor Kožich, Hans Georg Koch, Brian Fowler, D. Sean Froese

ORCID

, Matthias R. Baumgartner

ORCID

Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

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P. Burda, A. Kuster, O. Hjalmarson, T. Suormala, C. Bürer, S. Lutz, G. Roussey, L. Christa, J. Asin-Cayuela, G. Kollberg, B. A. Andersson, D. Watkins, D. S. Rosenblatt, B. Fowler, E. Holme and 2 other authors

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

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2014 Jehona Jusufi, Terttu Suormala, Patricie Burda, Brian Fowler, D. Sean Froese

ORCID

, Matthias R. Baumgartner

ORCID

Characterization of functional domains of the cblD (MMADHC) gene product

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Daniel J. Wichelecki, D. Sean Froese, D. Sean Froese

ORCID

, Jolanta Kopec, Joao R. C. Muniz, Wyatt W. Yue, John A. Gerlt

Enzymatic and Structural Characterization of rTSγ Provides Insights into the Function of rTSβ

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2013 Ds Sean Froese, D. Sean Froese

ORCID

, Farhad Forouhar, Timothy H. Tran, Melanie Vollmar, Yi Seul Kim, Scott Lew, Helen Neely, Jayaraman Seetharaman, Yang Shen, Rong Xiao, Thomas B. Acton, John K. Everett, Giuseppe Cannone, Sriharsha Puranik and 14 other authors

Crystal Structures of Malonyl-Coenzyme A Decarboxylase Provide Insights into Its Catalytic Mechanism and Disease-Causing Mutations

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2012 Ds Sean Froese, D. Sean Froese

ORCID

, Tobias Krojer, Xuchu Wu, Roshi Shrestha, Wasim Kiyani, Frank von Delft, Ra Gravel, Udo Oppermann, Wyatt Ww Yue

Structure of MMACHC reveals an arginine-rich pocket and a domain-swapped dimer for its B12 processing function.

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