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- Pohl, Sandra
- Braulke, Thomas 22
- Kollmann, Katrin 6
- Storch, Stephan 6
- De Pace, Raffaella 5
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35 Einträge gefunden
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CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
- Ammer, Luise Sophie
- Täuber, Karolin
- Perez, Anna
- Dohrmann, Thorsten
- Denecke, Jonas
- Santer, René
- Blümlein, Ulrike
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Non-functional ubiquitin C-terminal hydrolase L1 drives podocyte injury through impairing proteasomes in autoimmune glomerulonephritis
- Reichelt, Julia
- Sachs, Wiebke
- Frömbling, Sarah
- Fehlert, Julia
- Studencka-Turski, Maja
- Betz, Anna
- Loreth, Desiree
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Site-1 and site-2 proteases: A team of two in regulated proteolysis
2022 - Forschungsinformationssystem des UKE - frei zugänglich -
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia
- Holling, Tess
- Bhavani, Gandham S
- von Elsner, Leonie
- Shah, Hitesh
- Kausthubham, Neethukrishna
- Bhattacharyya, Shaila S
- Shukla, Anju
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Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
- Ammer, Luise Sophie
- Pohl, Sandra
- Breyer, Sandra Rafaela
- Aries, Charlotte
- Denecke, Jonas
- Perez, Anna
- Petzoldt, Martin
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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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Hip Morphology in Mucolipidosis Type II
- Ammer, Luise Sophie
- Oussoren, Esmee
- Muschol, Nicole Maria
- Pohl, Sandra
- Rubio-Gozalbo, M Estela
- Santer, Rene
- Stücker, Ralf
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Toward Engineering the Mannose 6-Phosphate Elaboration Pathway in Plants for Enzyme Replacement Therapy of Lysosomal Storage Disorders
2019 - Forschungsinformationssystem des UKE - frei zugänglich -
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover
- Pohl, Sandra
- Angermann, Alexandra
- Jeschke, Anke
- Hendrickx, Gretl
- Yorgan, Timur A
- Makrypidi-Fraune, Georgia
- Steigert, Anita
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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 -
Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex
- De Pace, Raffaella
- Voltolini Velho, Renata
- Encarnação, Marisa
- Marschner, Katrin
- Braulke, Thomas
- Pohl, Sandra
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Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control
2015 - Forschungsinformationssystem des UKE -
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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
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Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)
- De Pace, Raffaella
- Coutinho, Maria Francisca
- Nolte, Friedrich
- Haag, Friedrich
- Prata, Maria João
- Alves, Sandra
- Braulke, Thomas
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