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Medientyp
- Text 5
Karte
Erscheinungsjahr
Autor/in
- Velho, Renata Voltolini
- De Pace, Raffaella 3
- Pohl, Sandra 3
- Braulke, Thomas 2
- Danyukova, Tatyana 2
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Sprache
- Englisch 5
5 Einträge gefunden
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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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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