Cryptic Exon Activation by Disruption of Exon Splice Enhancer: NOVEL MECHANISM CAUSING 3-METHYLCROTONYL-CoA CARBOXYLASE DEFICIENCY

gan Stucki, Martin, Suormala, Terttu, Fowler, Brian, Valle, David, Baumgartner, Matthias R.
Cyhoeddwyd 2009

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)

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

gan Baumgartner, Matthias R., Almashanu, Shlomo, Suormala, Terttu, Obie, Cassandra, Cole, Robert N., Packman, Seymour, Baumgartner, E. Regula, Valle, David
Cyhoeddwyd 2001

Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy

gan Baumgartner, Matthias R., Dantas, M. Fernanda, Suormala, Terttu, Almashanu, Shlomo, Giunta, Cecilia, Friebel, Dolores, Gebhardt, Boris, Fowler, Brian, Hoffmann, Georg F., Baumgartner, E. Regula, Valle, David
Cyhoeddwyd 2004

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)

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzy...

gan Palhais, Bruno, Præstegaard, Veronica S., Sabaratnam, Rugivan, Doktor, Thomas Koed, Lutz, Seraina, Burda, Patricie, Suormala, Terttu, Baumgartner, Matthias, Fowler, Brian, Bruun, Gitte Hoffmann, Andersen, Henriette Skovgaard, Kožich, Viktor, Andresen, Brage Storstein
Cyhoeddwyd yn Nucleic Acids Res (2015)

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

gan Grünert Sarah C, Stucki Martin, Morscher Raphael J, Suormala Terttu, Bürer Celine, Burda Patricie, Christensen Ernst, Ficicioglu Can, Herwig Jürgen, Kölker Stefan, Möslinger Dorothea, Pasquini Elisabetta, Santer René, Schwab K, Wilcken Bridget, Fowler Brian, Yue Wyatt W, Baumgartner Matthias R
Cyhoeddwyd 2012-05-01

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

gan Grünert, Sarah C, Stucki, Martin, Morscher, Raphael J, Suormala, Terttu, Bürer, Celine, Burda, Patricie, Christensen, Ernst, Ficicioglu, Can, Herwig, Jürgen, Kölker, Stefan, Möslinger, Dorothea, Pasquini, Elisabetta, Santer, René, Schwab, K Otfried, Wilcken, Bridget, Fowler, Brian, Yue, Wyatt W, Baumgartner, Matthias R
Cyhoeddwyd 2012

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

gan Yu, Hung-Chun, Sloan, Jennifer L., Scharer, Gunter, Brebner, Alison, Quintana, Anita M., Achilly, Nathan P., Manoli, Irini, Coughlin, Curtis R., Geiger, Elizabeth A., Schneck, Una, Watkins, David, Suormala, Terttu, Van Hove, Johan L.K., Fowler, Brian, Baumgartner, Matthias R., Rosenblatt, David S., Venditti, Charles P., Shaikh, Tamim H.
Cyhoeddwyd 2013

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

gan Grünert, Sarah C, Müllerleile, Stephanie, De Silva, Linda, Barth, Michael, Walter, Melanie, Walter, Kerstin, Meissner, Thomas, Lindner, Martin, Ensenauer, Regina, Santer, René, Bodamer, Olaf A, Baumgartner, Matthias R, Brunner-Krainz, Michaela, Karall, Daniela, Haase, Claudia, Knerr, Ina, Marquardt, Thorsten, Hennermann, Julia B, Steinfeld, Robert, Beblo, Skadi, Koch, Hans-Georg, Konstantopoulou, Vassiliki, Scholl-Bürgi, Sabine, van Teeffelen-Heithoff, Agnes, Suormala, Terttu, Sperl, Wolfgang, Kraus, Jan P, Superti-Furga, Andrea, Schwab, Karl Otfried, Sass, Jörn Oliver
Cyhoeddwyd 2013

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)