9 Einträge gefunden

1. Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI

   1. Nagpal, Rohit
   2. Georgi, Gina
   3. Knauth, Sarah
   4. Schmid-Herrmann, Carmen
   5. Muschol, Nicole
   6. Braulke, Thomas
   7. Kahl-Nieke, Bärbel

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. Mannose 6-phosphate-dependent targeting of lysosomal enzymes is required for normal craniofacial and dental development

   1. Koehne, Till
   2. Markmann, Sandra
   3. Schweizer, Michaela
   4. Muschol, Nicole
   5. Friedrich, Reinhard E
   6. Hagel, Christian
   7. Glatzel, Markus

   2016 - Forschungsinformationssystem des UKE
3. Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions

   1. Otomo, Takanobu
   2. Schweizer, Michaela
   3. Kollmann, Katrin
   4. Schumacher, Valéa
   5. Muschol, Nicole
   6. Tolosa, Eva
   7. Mittrücker, Hans-Willi

   2015 - Forschungsinformationssystem des UKE
4. 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
5. 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
6. 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
7. The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)

   1. Meyer, Ann
   2. Kossow, Kai
   3. Gal, Andreas
   4. Steglich, Cordula
   5. Mühlhausen, Chris
   6. Ullrich, Kurt
   7. Braulke, Thomas

   2008 - Forschungsinformationssystem des UKE
8. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)

   1. Keyser, Britta
   2. Mühlhausen, Chris
   3. Dickmanns, Achim
   4. Christensen, Ernst
   5. Muschol, Nicole
   6. Ullrich, Kurt
   7. Braulke, Thomas

   2008 - Forschungsinformationssystem des UKE
9. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).

   1. Meyer, Ann
   2. Kossow, Kai
   3. Gal, Andreas
   4. Mühlhausen, Chris
   5. Ullrich, Kurt
   6. Braulke, Thomas
   7. Muschol, Nicole

   2007 - Forschungsinformationssystem des UKE