31 Einträge gefunden

1. Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system

   1. Klein, Marcel
   2. Kaleem, Abuzar
   3. Oetjen, Sandra
   4. Wünkhaus, Daniela
   5. Binkle, Lars
   6. Schilling, Sandra
   7. Gjorgjieva, Milena

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses

   1. Bartsch, Udo
   2. Storch, Stephan

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
3. CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry

   1. Heinl, Elena-Sofia
   2. Lorenz, Sebastian
   3. Schmidt, Barbara
   4. Nasser M Laqtom, Nouf
   5. Mazzulli, Joseph R
   6. Francelle, Laetitia
   7. Yu, Timothy W

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
4. Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3

   1. Seifert, Carolin
   2. Storch, Stephan
   3. Bähring, Robert

   2020 - Forschungsinformationssystem des UKE
5. Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

   1. Bauwens, Miriam
   2. Storch, Stephan
   3. Weisschuh, Nicole
   4. Ceuterick-de Groote, Chantal
   5. De Rycke, Riet
   6. Brecht, Guillemyn
   7. Sarah, De Jaegere

   2020 - Forschungsinformationssystem des UKE
6. Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses

   1. Kohlschütter, Alfried
   2. Schulz, Angela
   3. Bartsch, Udo
   4. Storch, Stephan

   2019 - Forschungsinformationssystem des UKE
7. Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype

   1. Atiskova, Yevgeniya
   2. Bartsch, Susanne
   3. Danyukova, Tatyana
   4. Becker, Elke
   5. Hagel, Christian
   6. Storch, Stephan
   7. Bartsch, Udo

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
8. The CLN3 gene and protein: What we know

   1. Mirza, Myriam
   2. Vainshtein, Anna
   3. DiRonza, Alberto
   4. Chandrachud, Uma
   5. Haslett, Luke J
   6. Palmieri, Michela
   7. Storch, Stephan

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
9. A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival.

   1. von Kleist, Lisa
   2. Ariunbat, Khandsuren
   3. Braren, Ingke
   4. Stauber, Tobias
   5. Storch, Stephan
   6. Danyukova, Tatyana

   2019 - Forschungsinformationssystem des UKE
10. Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity

    1. Schmiesing, Jessica
    2. Storch, Stephan
    3. Dörfler, Ann-Cathrin
    4. Schweizer, Michaela
    5. Makrypidi-Fraune, Georgia
    6. Thelen, Melanie
    7. Sylvester, Marc

    2018 - Forschungsinformationssystem des UKE - frei zugänglich
11. Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation

    1. Danyukova, Tatyana
    2. Ariunbat, Khandsuren
    3. Thelen, Melanie
    4. Brocke-Ahmadinejad, Nahal
    5. Mole, Sara E
    6. Storch, Stephan

    2018 - Forschungsinformationssystem des UKE
12. Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7

    1. Brandenstein, Laura
    2. Schweizer, Michaela
    3. Sedlacik, Jan
    4. Fiehler, Jens
    5. Storch, Stephan

    2016 - Forschungsinformationssystem des UKE
13. Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7

    1. Jankowiak, Wanda
    2. Brandenstein, Laura
    3. Dulz, Simon
    4. Hagel, Christian
    5. Storch, Stephan
    6. Bartsch, Udo

    2016 - Forschungsinformationssystem des UKE - frei zugänglich
14. Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease

    1. Damme, Markus
    2. Brandenstein, Laura
    3. Fehr, Susanne
    4. Jankowiak, Wanda
    5. Bartsch, Udo
    6. Schweizer, Michaela
    7. Hermans-Borgmeyer, Irm

    2014 - Forschungsinformationssystem des UKE
15. Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif

    1. Franke, Mine
    2. Braulke, Thomas
    3. Storch, Stephan

    2013 - Forschungsinformationssystem des UKE
16. Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7.

    1. Steenhuis, Pieter
    2. Froemming, Joshua
    3. Reinheckel, Thomas
    4. Storch, Stephan

    2012 - Forschungsinformationssystem des UKE
17. Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.

    1. Lebrun, Anne-Hélène
    2. Moll-Khasrawi, Parisa
    3. Pohl, Sandra
    4. Makrypidi, Georgia
    5. Storch, Stephan
    6. Kilian, Dirk
    7. Streichert, Thomas

    2011 - Forschungsinformationssystem des UKE - frei zugänglich
18. Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif.

    1. Steenhuis, Pieter
    2. Herder, Stephanie
    3. Gelis, Suyin
    4. Braulke, Thomas
    5. Storch, Stephan

    2010 - Forschungsinformationssystem des UKE
19. 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
20. Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

    1. Lebrun, Anne-Hélène
    2. Storch, Stephan
    3. Rüschendorf, Franz
    4. Schmiedt, Mia-Lisa
    5. Kyttälä, Aija
    6. Mole, Sara E
    7. Kitzmüller, Claudia

    2009 - Forschungsinformationssystem des UKE