Affiner les résultats

Endoplasmic reticulum and lysosomal quality control of four nonsense mutants of iduronate 2-sulfatase linked to Hunter’s syndrome

Marazza, Alessandro ; Galli, Carmela ; Fasana, Elisa ; Sgrignani, Jacopo ; Burda, Patricie ; Enrico M. A. Fassi ; Matthias Baumgartner ; Andrea Cavalli ; Maurizio Molinari

In: DNA and cell biology

Hunter’s syndrome (mucopolysaccharidosis type II) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate 2-sulfatase (IDS) gene. Motivated by the case of a child affected by this syndrome, we compared the intracellular fate of wild type IDS (IDSWT) and of four nonsense mutations of IDS (IDSL482X, IDSY452X, IDSR443X and IDSW337X) generating progressively shorter ...

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

Jusufi, Jehona ; Suormala, Terttu ; Burda, Patricie ; Fowler, Brian ; Froese, D. ; Baumgartner, Matthias

In: Journal of Inherited Metabolic Disease, 2014, vol. 37, no. 5, p. 841-849

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism

Stucki, Martin ; Coelho, David ; Suormala, Terttu ; Burda, Patricie ; Fowler, Brian ; Baumgartner, Matthias R.

In: Human Molecular Genetics, 2012, vol. 21, no. 6, p. 1410-1418

GPI anchor biosynthesis in yeast: phosphoethanolamine is attached to the α1,4-linked mannose of the complete precursor glycophospholipid

Canivenc-Gansel, Elisabeth ; Imhof, Isabella ; Reggiori, Fulvio ; Burda, Patricie ; Conzelmann, Andreas ; Benachour, Abdellah

In: Glycobiology, 1998, vol. 8, no. 8, p. 761-770

The 3.4-kDa Ost4 protein is required for the assembly of two distinct oligosaccharyltransferase complexes in yeast

Spirig, Urs ; Bodmer, Daniel ; Wacker, Michael ; Burda, Patricie ; Aebi, Markus

In: Glycobiology, 2005, vol. 15, no. 12, p. 1396-1406

Ordered assembly of the asymmetrically branched lipid-linked oligosaccharide in the endoplasmic reticulum is ensured by the substrate specificity of the individual glycosyltransferases

Burda, Patricie ; Jakob, Claude A. ; Beinhauer, Jens ; Hegemann, Johannes H. ; Aebi, Markus

In: Glycobiology, 1999, vol. 9, no. 6, p. 617-625

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 enzyme activity in patient cells

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

In: Nucleic Acids Research, 2015, vol. 43, no. 9, p. 4627-4639

The ALG10 locus of Saccharomyces cerevisiae encodes the α-1,2 glucosyltransferase of the endoplasmic reticulum: the terminal glucose of the lipid-linked oligosaccharide is required for efficient N-linked glycosylation

Burda, Patricie ; Aebi, Markus

In: Glycobiology, 1998, vol. 8, no. 5, p. 455-462