7 Einträge gefunden

1. Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage

   1. Danyukova, Tatyana
   2. Alimy, Assil Ramin
   3. Velho, Renata Voltolini
   4. Yorgan, Timur A.
   5. Di Lorenzo, Giorgia
   6. von Kroge, Simon
   7. Tidow, Henning

   2023 - Forschungsinformationssystem der UHH
2. Combined in-vitro and in-silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta

   1. Danyukova, Tatyana
   2. Ludwig, Nataniel F
   3. Velho, Renata Voltolini
   4. Harms, Frederike L
   5. Güneş, Nilay
   6. Tidow, Henning
   7. Schwartz, Ida V

   2020 - Forschungsinformationssystem des UKE - frei zugänglich
3. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations

   1. Velho, Renata Voltolini
   2. Harms, Frederike L
   3. Danyukova, Tatyana
   4. Ludwig, Nataniel F
   5. Friez, Michael J
   6. Cathey, Sara S
   7. Filocamo, Mirella

   2019 - Forschungsinformationssystem des UKE
4. Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells

   1. Di Lorenzo, Giorgia
   2. Velho, Renata Voltolini
   3. Winter, Dominic
   4. Thelen, Melanie
   5. Ahmadi, Shiva
   6. Schweizer, Michaela
   7. De Pace, Raffaella

   2018 - Forschungsinformationssystem des UKE
5. 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
6. 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
7. 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