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

gan Froese, D. Sean, Gravel, Roy A.
Cyhoeddwyd 2010

The Role of Protein Structural Analysis in the Next Generation Sequencing Era

gan Yue, Wyatt W., Froese, D. Sean, Brennan, Paul E.
Cyhoeddwyd yn Chemical Diagnostics (2012)

Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐CoA Mutase (MUT) Deficiency

gan Forny, Patrick, Froese, D. Sean, Suormala, Terttu, Yue, Wyatt W., Baumgartner, Matthias R.
Cyhoeddwyd yn Hum Mutat (2014)

Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria

gan Lucienne, Marie, Mathis, Déborah, Perkins, Nathan, Fingerhut, Ralph, Baumgartner, Matthias R., Froese, D. Sean
Cyhoeddwyd yn JIMD Rep (2020)

Conformational plasticity of glycogenin and its maltosaccharide substrate during glycogen biogenesis

gan Chaikuad, Apirat, Froese, D. Sean, Berridge, Georgina, von Delft, Frank, Oppermann, Udo, Yue, Wyatt W.
Cyhoeddwyd 2011

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

gan Wichelecki, Daniel J., Froese, D. Sean, Kopec, Jolanta, Muniz, Joao R.C., Yue, Wyatt W., Gerlt, John A.
Cyhoeddwyd 2014

Structures of the Human GTPase MMAA and Vitamin B(12)-dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation

gan Froese, D. Sean, Kochan, Grazyna, Muniz, João R. C., Wu, Xuchu, Gileadi, Carina, Ugochukwu, Emelie, Krysztofinska, Ewelina, Gravel, Roy A., Oppermann, Udo, Yue, Wyatt W.
Cyhoeddwyd 2010

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B(12) Trafficking

gan 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.
Cyhoeddwyd yn J Biol Chem (2015)

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

gan Froese, D. Sean, Kopec, Jolanta, Rembeza, Elzbieta, Bezerra, Gustavo Arruda, Oberholzer, Anselm Erich, Suormala, Terttu, Lutz, Seraina, Chalk, Rod, Borkowska, Oktawia, Baumgartner, Matthias R., Yue, Wyatt W.
Cyhoeddwyd yn Nat Commun (2018)

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

gan Heuberger, Kathrin, Bailey, Henry J., Burda, Patricie, Chaikuad, Apirat, Krysztofinska, Ewelina, Suormala, Terttu, Bürer, Céline, Lutz, Seraina, Fowler, Brian, Froese, D. Sean, Yue, Wyatt W., Baumgartner, Matthias R.
Cyhoeddwyd yn Biochim Biophys Acta Mol Basis Dis (2019)

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B(12)-trafficking proteins ABCD4 and LMBD1

gan Fettelschoss, Victoria, Burda, Patricie, Sagné, Corinne, Coelho, David, De Laet, Corinne, Lutz, Seraina, Suormala, Terttu, Fowler, Brian, Pietrancosta, Nicolas, Gasnier, Bruno, Bornhauser, Beat, Froese, D. Sean, Baumgartner, Matthias R.
Cyhoeddwyd yn J Biol Chem (2017)

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

gan 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.
Cyhoeddwyd yn Hum Mol Genet (2015)

Identification of small molecule allosteric modulators of 5,10-methylenetetrahydrofolate reductase (MTHFR) by targeting its unique regulatory domain

gan Bezerra, Gustavo A., Holenstein, Alexander, Foster, William R., Xie, Bing, Hicks, Kevin G., Bürer, Céline, Lutz, Seraina, Mukherjee, Ayan, Sarkar, Dipika, Bhattacharya, Debomita, Rutter, Jared, Talukdar, Arindam, Brown, Peter J., Luo, Minkui, Shi, Lei, Froese, D. Sean, Yue, Wyatt W.
Cyhoeddwyd yn Biochimie (2021)

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

gan 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.
Cyhoeddwyd yn J Biol Chem (2016)

Shifting landscapes of human MTHFR missense-variant effects

gan Weile, Jochen, Kishore, Nishka, Sun, Song, Maaieh, Ranim, Verby, Marta, Li, Roujia, Fotiadou, Iosifina, Kitaygorodsky, Julia, Wu, Yingzhou, Holenstein, Alexander, Bürer, Céline, Blomgren, Linnea, Yang, Shan, Nussbaum, Robert, Rozen, Rima, Watkins, David, Gebbia, Marinella, Kozich, Viktor, Garton, Michael, Froese, D. Sean, Roth, Frederick P.
Cyhoeddwyd yn Am J Hum Genet (2021)

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

gan Froese, D. Sean, Forouhar, Farhad, Tran, Timothy H., Vollmar, Melanie, Kim, Yi Seul, Lew, Scott, Neely, Helen, Seetharaman, Jayaraman, Shen, Yang, Xiao, Rong, Acton, Thomas B., Everett, John K., Cannone, Giuseppe, Puranik, Sriharsha, Savitsky, Pavel, Krojer, Tobias, Pilka, Ewa S., Kiyani, Wasim, Lee, Wen Hwa, Marsden, Brian D., von Delft, Frank, Allerston, Charles K., Spagnolo, Laura, Gileadi, Opher, Montelione, Gaetano T., Oppermann, Udo, Yue, Wyatt W., Tong, Liang
Cyhoeddwyd 2013

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

gan 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.
Cyhoeddwyd yn Nat Commun (2018)

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

gan 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.
Cyhoeddwyd yn Nat Commun (2018)

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

gan Huemer, Martina, Mulder-Bleile, Regina, Burda, Patricie, Froese, D. Sean, Suormala, Terttu, Zeev, Bruria Ben, Chinnery, Patrick, Dionisi-Vici, Carlo, Dobbelaere, Dries, Gökcay, Gülden, Häberle, Johannes, Lossos, Alexander, Mengel, Eugen, Morris, Andrew, Niezen-Koning, Klary E., Plecko, Barbara, Parini, Rosella, Rokicki, Dariusz, Schiff, Manuel, Schimmel, Mareike, Sewell, Adrian, Sperl, Wolfgang, Spiekerkötter, Ute, Steinmann, Beat, Tadeucci, Grazia, Trejo, Jose, Trefz, Friedrich, Tsuji, Megumi, Vilaseca, María Antònia, von Kleist-Retzow, Jürgen-Christoph, Walker, Valerie, Zeman, Jiri, Baumgartner, Matthias R., Fowler, Brian
Cyhoeddwyd yn J Inherit Metab Dis (2016)