3 Einträge gefunden

1. Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome

   1. Muschol, Nicole
   2. Pohl, Sandra
   3. Meyer, Ann
   4. Gal, Andreas
   5. Ullrich, Kurt
   6. Braulke, Thomas

   2011 - Forschungsinformationssystem des UKE
2. Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.

   1. Pohl, Sandra
   2. Encarnação, Marisa
   3. Castrichini, Monica
   4. Müller-Loennies, Sven
   5. Muschol, Nicole
   6. Braulke, Thomas

   2010 - Forschungsinformationssystem des UKE
3. Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages

   1. Pohl, Sandra
   2. Tiede, Stephan
   3. Marschner, Katrin
   4. Encarnação, Marisa
   5. Castrichini, Monica
   6. Kollmann, Katrin
   7. Muschol, Nicole

   2010 - Forschungsinformationssystem des UKE