25 Einträge gefunden

1. Non-functional ubiquitin C-terminal hydrolase L1 drives podocyte injury through impairing proteasomes in autoimmune glomerulonephritis

   1. Reichelt, Julia
   2. Sachs, Wiebke
   3. Frömbling, Sarah
   4. Fehlert, Julia
   5. Studencka-Turski, Maja
   6. Betz, Anna
   7. Loreth, Desiree

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
2. CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

   1. Ammer, Luise Sophie
   2. Täuber, Karolin
   3. Perez, Anna
   4. Dohrmann, Thorsten
   5. Denecke, Jonas
   6. Santer, René
   7. Blümlein, Ulrike

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
3. Site-1 and site-2 proteases: A team of two in regulated proteolysis

   1. Danyukova, Tatyana
   2. Schöneck, Kenneth
   3. Pohl, Sandra

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
4. A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia

   1. Holling, Tess
   2. Bhavani, Gandham S
   3. von Elsner, Leonie
   4. Shah, Hitesh
   5. Kausthubham, Neethukrishna
   6. Bhattacharyya, Shaila S
   7. Shukla, Anju

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
5. Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?

   1. Ammer, Luise Sophie
   2. Pohl, Sandra
   3. Breyer, Sandra Rafaela
   4. Aries, Charlotte
   5. Denecke, Jonas
   6. Perez, Anna
   7. Petzoldt, Martin

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
6. Mucolipidosis type II and type III: a systematic review of 843 published cases

   1. Dogterom, Emma J
   2. Wagenmakers, Margreet A E M
   3. Wilke, Martina
   4. Demirdas, Serwet
   5. Muschol, Nicole Maria
   6. Pohl, Sandra
   7. van der Meijden, Jan C

   2021 - Forschungsinformationssystem des UKE
7. 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
8. Hip Morphology in Mucolipidosis Type II

   1. Ammer, Luise Sophie
   2. Oussoren, Esmee
   3. Muschol, Nicole Maria
   4. Pohl, Sandra
   5. Rubio-Gozalbo, M Estela
   6. Santer, Rene
   7. Stücker, Ralf

   2020 - Forschungsinformationssystem des UKE - frei zugänglich
9. Toward Engineering the Mannose 6-Phosphate Elaboration Pathway in Plants for Enzyme Replacement Therapy of Lysosomal Storage Disorders

   1. Zeng, Ying
   2. He, Xu
   3. Danyukova, Tatyana
   4. Pohl, Sandra
   5. Kermode, Allison R

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
10. The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover

    1. Pohl, Sandra
    2. Angermann, Alexandra
    3. Jeschke, Anke
    4. Hendrickx, Gretl
    5. Yorgan, Timur A
    6. Makrypidi-Fraune, Georgia
    7. Steigert, Anita

    2018 - Forschungsinformationssystem des UKE
11. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms

    1. Sperb-Ludwig, Fernanda
    2. Acosta, AX
    3. Ribeiro, EM
    4. Kim, CA
    5. Gandelman Horovitz, DD
    6. Boy, R
    7. Rodovalho-Doriqui, MJ

    2017 - Forschungsinformationssystem des UKE
12. 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
13. 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
14. Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex

    1. De Pace, Raffaella
    2. Voltolini Velho, Renata
    3. Encarnação, Marisa
    4. Marschner, Katrin
    5. Braulke, Thomas
    6. Pohl, Sandra

    2015 - Forschungsinformationssystem des UKE
15. Biosynthesis, targeting, and processing of lysosomal Proteins: pulse-chase labeling and immune precipitation

    1. Pohl, Sandra
    2. Hasilik, Andrej

    2015 - Forschungsinformationssystem des UKE
16. 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
17. Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control

    1. Klünder, Sarah
    2. Heeren, Jörg
    3. Markmann, Sandra
    4. Santer, René
    5. Braulke, Thomas
    6. Pohl, Sandra

    2015 - Forschungsinformationssystem des UKE
18. Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)

    1. De Pace, Raffaella
    2. Coutinho, Maria Francisca
    3. Nolte, Friedrich
    4. Haag, Friedrich
    5. Prata, Maria João
    6. Alves, Sandra
    7. Braulke, Thomas

    2014 - Forschungsinformationssystem des UKE
19. Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.

    1. Kollmann, Katrin
    2. Damme, M
    3. Markmann, Sandra
    4. Morelle, W
    5. Schweizer, Michaela
    6. Hermans-Borgmeyer, Irmgard
    7. Röchert, Anna Katharina

    2012 - Forschungsinformationssystem des UKE
20. A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.

    1. Marschner, Katrin
    2. Kollmann, Katrin
    3. Schweizer, Michaela
    4. Braulke, Thomas
    5. Pohl, Sandra

    2011 - Forschungsinformationssystem des UKE