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Autor/in
- Storch, Stephan
- Braulke, Thomas 12
- Pohl, Sandra 6
- Bartsch, Udo 5
- Kohlschütter, Alfried 4
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31 Einträge gefunden
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Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system
- Klein, Marcel
- Kaleem, Abuzar
- Oetjen, Sandra
- Wünkhaus, Daniela
- Binkle, Lars
- Schilling, Sandra
- Gjorgjieva, Milena
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CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry
- Heinl, Elena-Sofia
- Lorenz, Sebastian
- Schmidt, Barbara
- Nasser M Laqtom, Nouf
- Mazzulli, Joseph R
- Francelle, Laetitia
- Yu, Timothy W
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Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
- Bauwens, Miriam
- Storch, Stephan
- Weisschuh, Nicole
- Ceuterick-de Groote, Chantal
- De Rycke, Riet
- Brecht, Guillemyn
- Sarah, De Jaegere
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The CLN3 gene and protein: What we know
- Mirza, Myriam
- Vainshtein, Anna
- DiRonza, Alberto
- Chandrachud, Uma
- Haslett, Luke J
- Palmieri, Michela
- Storch, Stephan
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Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype
- Atiskova, Yevgeniya
- Bartsch, Susanne
- Danyukova, Tatyana
- Becker, Elke
- Hagel, Christian
- Storch, Stephan
- Bartsch, Udo
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Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses
2019 - Forschungsinformationssystem des UKE -
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation
- Danyukova, Tatyana
- Ariunbat, Khandsuren
- Thelen, Melanie
- Brocke-Ahmadinejad, Nahal
- Mole, Sara E
- Storch, Stephan
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Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity
- Schmiesing, Jessica
- Storch, Stephan
- Dörfler, Ann-Cathrin
- Schweizer, Michaela
- Makrypidi-Fraune, Georgia
- Thelen, Melanie
- Sylvester, Marc
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Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7
2016 - Forschungsinformationssystem des UKE -
Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7
2016 - Forschungsinformationssystem des UKE - frei zugänglich -
Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease
- Damme, Markus
- Brandenstein, Laura
- Fehr, Susanne
- Jankowiak, Wanda
- Bartsch, Udo
- Schweizer, Michaela
- Hermans-Borgmeyer, Irm
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Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7.
2012 - Forschungsinformationssystem des UKE -
Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.
- Lebrun, Anne-Hélène
- Moll-Khasrawi, Parisa
- Pohl, Sandra
- Makrypidi, Georgia
- Storch, Stephan
- Kilian, Dirk
- Streichert, Thomas
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Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif.
2010 - Forschungsinformationssystem des UKE -
Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases.
2009 - Forschungsinformationssystem des UKE -