22 Einträge gefunden

1. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms

   1. Sperb-Ludwig, Fernanda
   2. Acosta, AX
   3. Ribeiro, EM
   4. Kim, CA
   5. Gandelman Horovitz, DD
   6. Boy, R
   7. Rodovalho-Doriqui, MJ

   2017 - Forschungsinformationssystem des UKE
2. Site-1 protease and lysosomal homeostasis

   1. Velho, Renata Voltolini
   2. De Pace, Raffaella
   3. Klünder, Sarah
   4. Di Lorenzo, Giorgia
   5. Schweizer, Michaela
   6. Braulke, Thomas
   7. Pohl, Sandra

   2017 - Forschungsinformationssystem des UKE
3. Identification of the interaction domains between alpha- and gamma-subunits of GlcNAc-1-phosphotransferase

   1. Velho, Renata Voltolini
   2. De Pace, Raffaella
   3. Tidow, Henning
   4. Braulke, Thomas
   5. Pohl, Sandra

   2016 - Forschungsinformationssystem der UHH
4. Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control

   1. Klünder, Sarah
   2. Heeren, Jörg
   3. Markmann, Sandra
   4. Santer, René
   5. Braulke, Thomas
   6. Pohl, Sandra

   2015 - Forschungsinformationssystem des UKE
5. Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex

   1. De Pace, Raffaella
   2. Voltolini Velho, Renata
   3. Encarnação, Marisa
   4. Marschner, Katrin
   5. Braulke, Thomas
   6. Pohl, Sandra

   2015 - Forschungsinformationssystem des UKE
6. Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site

   1. Velho, Renata Voltolini
   2. De Pace, Raffaella
   3. Klünder, Sarah
   4. Sperb-Ludwig, Fernanda
   5. Lourenço, Charles Marques
   6. Schwartz, Ida V D
   7. Braulke, Thomas

   2015 - Forschungsinformationssystem des UKE
7. Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)

   1. De Pace, Raffaella
   2. Coutinho, Maria Francisca
   3. Nolte, Friedrich
   4. Haag, Friedrich
   5. Prata, Maria João
   6. Alves, Sandra
   7. Braulke, Thomas

   2014 - Forschungsinformationssystem des UKE
8. Multiple Enzyme Deficiencies: Defects in transport: Mucolipidosis II alpha/beta; mucolipidosis III alpha/beta and mucolipidosis III gamma

   1. Raas-Rothschild, A
   2. Pohl, Sandra
   3. Braulke, Thomas

   2012 - Forschungsinformationssystem des UKE
9. Defects in Transport: Mucolipidosis II alpha/beta, mucolipidosis III alpha/beta and mucolipidosis III gamma

   1. Raas-Rothschild, A
   2. Pohl, Sandra
   3. Braulke, Thomas

   2012 - Forschungsinformationssystem des UKE
10. A novel mannose 6-phosphate specific antibody fragment for diagnosis of Mucolipidosis type II and III

    1. Pohl, Sandra
    2. Braulke, Thomas
    3. Müller-Loennies, S

    2012 - Forschungsinformationssystem des UKE
11. A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.

    1. Marschner, Katrin
    2. Kollmann, Katrin
    3. Schweizer, Michaela
    4. Braulke, Thomas
    5. Pohl, Sandra

    2011 - Forschungsinformationssystem des UKE
12. 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
13. Post-translational modifications of the γ-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase

    1. Encarnação, Marisa Alexandra Rego da
    2. Kollmann, Katrin
    3. Trusch, Maria
    4. Braulke, Thomas
    5. Pohl, Sandra

    2011 - Forschungsinformationssystem der UHH - frei zugänglich
14. Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase.

    1. Encarnação, Marisa
    2. Kollmann, Katrin
    3. Trusch, Maria
    4. Braulke, Thomas
    5. Pohl, Sandra

    2011 - Forschungsinformationssystem des UKE
15. 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
16. 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
17. Mannose phosphorylation in health and disease.

    1. Kollmann, Katrin
    2. Pohl, Sandra
    3. Marschner, Katrin
    4. Encarnação, Marisa
    5. Sakwa, Imme
    6. Stephan, Tiede
    7. Poorthuis, Ben J

    2009 - Forschungsinformationssystem des UKE
18. Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases.

    1. Pohl, Sandra
    2. Marschner, Katrin
    3. Storch, Stephan
    4. Braulke, Thomas

    2009 - Forschungsinformationssystem des UKE
19. Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.

    1. Pohl, Sandra
    2. Tiede, Stephan
    3. Castrichini, Monica
    4. Cantz, Michael
    5. Gieselmann, Volkmar
    6. Braulke, Thomas

    2009 - Forschungsinformationssystem des UKE
20. Molecular analysis of the GlcNac-1-phosphotransferase.

    1. Braulke, Thomas
    2. Pohl, Sandra
    3. Storch, Stephan

    2008 - Forschungsinformationssystem des UKE