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Medientyp
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Autor/in
- Velho, Renata Voltolini
- De Pace, Raffaella 4
- Pohl, Sandra 4
- Braulke, Thomas 3
- Danyukova, Tatyana 3
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Sprache
- Englisch 7
7 Einträge gefunden
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Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage
- Danyukova, Tatyana
- Alimy, Assil Ramin
- Velho, Renata Voltolini
- Yorgan, Timur A.
- Di Lorenzo, Giorgia
- von Kroge, Simon
- Tidow, Henning
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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
- Danyukova, Tatyana
- Ludwig, Nataniel F
- Velho, Renata Voltolini
- Harms, Frederike L
- Güneş, Nilay
- Tidow, Henning
- Schwartz, Ida V
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The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations
- Velho, Renata Voltolini
- Harms, Frederike L
- Danyukova, Tatyana
- Ludwig, Nataniel F
- Friez, Michael J
- Cathey, Sara S
- Filocamo, Mirella
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Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells
- Di Lorenzo, Giorgia
- Velho, Renata Voltolini
- Winter, Dominic
- Thelen, Melanie
- Ahmadi, Shiva
- Schweizer, Michaela
- De Pace, Raffaella
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Site-1 protease and lysosomal homeostasis
- Velho, Renata Voltolini
- De Pace, Raffaella
- Klünder, Sarah
- Di Lorenzo, Giorgia
- Schweizer, Michaela
- Braulke, Thomas
- Pohl, Sandra
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Identification of the interaction domains between alpha- and gamma-subunits of GlcNAc-1-phosphotransferase
2016 - Forschungsinformationssystem der UHH -
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site
- Velho, Renata Voltolini
- De Pace, Raffaella
- Klünder, Sarah
- Sperb-Ludwig, Fernanda
- Lourenço, Charles Marques
- Schwartz, Ida V D
- Braulke, Thomas