Degradation of Misfolded Endoplasmic Reticulum Glycoproteins in Saccharomyces cerevisiae Is Determined by a Specific Oligosaccharide Structure

Por Jakob, Claude A., Burda, Patricie, Roth, Jürgen, Aebi, Markus
Publicado em 1998

Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease

Por Hülsmeier, Andreas J., Tobler, Micha, Burda, Patricie, Hennet, Thierry
Publicado no Sci Rep (2016)

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

Por Abela, Lucia, Plecko, Barbara, Palla, Antonella, Burda, Patricie, Nuoffer, Jean-Marc, Ballhausen, Diana, Rohrbach, Marianne
Publicado no Orphanet J Rare Dis (2014)

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

Por Imbach, Timo, Burda, Patricie, Kuhnert, Peter, Wevers, Ron A., Aebi, Markus, Berger, Eric G., Hennet, Thierry
Publicado em 1999

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

Por Imbach, Timo, Schenk, Barbara, Schollen, Els, Burda, Patricie, Stutz, Andreas, Grünewald, Stephanie, Bailie, Nicola M., King, Mary D., Jaeken, Jaak, Matthijs, Gert, Berger, Eric G., Aebi, Markus, Hennet, Thierry
Publicado em 2000

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...

Por 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
Publicado no Nucleic Acids Res (2015)

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

Por 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
Publicado em 2012-05-01

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

Por 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
Publicado em 2012

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

Por 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.
Publicado no J Biol Chem (2016)