12 Einträge gefunden

1. Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins

   1. Schmiesing, Jessica
   2. Schlüter, Hartmut
   3. Ullrich, Kurt
   4. Braulke, Thomas
   5. Mühlhausen, Chris

   2014 - Forschungsinformationssystem des UKE - frei zugänglich
2. Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1

   1. Thies, Bastian
   2. Meyer-Schwesinger, Catherine
   3. Lamp, Jessica
   4. Schweizer, Michaela
   5. Koeller, David M
   6. Ullrich, Kurt
   7. Braulke, Thomas

   2013 - Forschungsinformationssystem des UKE
3. 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
4. Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.

   1. Lamp, Jessica
   2. Keyser, Britta
   3. Koeller, David M
   4. Ullrich, Kurt
   5. Braulke, Thomas
   6. Mühlhausen, Chris

   2011 - Forschungsinformationssystem des UKE
5. 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
6. Membrane translocation of glutaric acid and its derivatives.

   1. Mühlhausen, Chris
   2. Burckhardt, B
   3. Hagos, Y
   4. Burckhardt, G
   5. Keyser, Britta
   6. Lukacs, Zoltan
   7. Ullrich, Kurt

   2008 - Forschungsinformationssystem des UKE
7. 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
8. 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
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
10. Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I.

    1. Mühlhausen, Chris
    2. Ott, Nicola
    3. Chalajour, Fariba
    4. Tilki, Derya
    5. Freudenberg, Folke
    6. Shahhossini, Mona
    7. Thiem, Joachim

    2006 - Forschungsinformationssystem des UKE
11. Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.

    1. Tsiakas, Kostas Konstantinos
    2. Steinfeld, Robert
    3. Storch, Stephan
    4. Ezaki, Junji
    5. Lukacs, Zoltan
    6. Kominami, Eiki
    7. Kohlschütter, Alfried

    2004 - Forschungsinformationssystem des UKE
12. Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.

    1. Storch, Stephan
    2. Wittenstein, Birgit
    3. Islam, Rafiqul
    4. Ullrich, Kurt
    5. Sly, William S
    6. Braulke, Thomas

    2003 - Forschungsinformationssystem des UKE