Suchergebnisse - "Braulke, Thomas"

PubPharm (89)

1

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2021

von Di Lorenzo, G. | Westermann, L. | Yorgan, T. | +29

2

Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype

enthalten in: EMBO molecular medicine | 2021

von Soldati, C. | Lopez-Fabuel, I. | Wanderlingh, L. | +20

3

Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria

enthalten in: Journal of the American Society of Nephrology : JASN | 2020

von Sachs, W. | Sachs, M. | Krüger, E. | +16

4

Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking

enthalten in: The Journal of biological chemistry | 2019

von Schmidtke, C. | Tiede, S. | Thelen, M. | +11

5

The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover

enthalten in: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2018

von Pohl, S. | Angermann, A. | Jeschke, A. | +25

6

Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity

enthalten in: Cell reports | 2018

von Schmiesing, J. | Storch, S. | Dörfler, A. | +12

7

Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells

enthalten in: Molecular & cellular proteomics : MCP | 2018

von Di Lorenzo, G. | Velho, R. | Winter, D. | +12

8

Site-1 protease and lysosomal homeostasis

enthalten in: Biochimica et biophysica acta. Molecular cell research | 2017

von Velho, R. | De Pace, R. | Klünder, S. | +4

9

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms

enthalten in: The international journal of biochemistry & cell biology | 2017

von Ludwig, N. | Velho, R. | Sperb-Ludwig, F. | +11

10

Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II

enthalten in: Molecular & cellular proteomics : MCP | 2017

von Markmann, S. | Krambeck, S. | Hughes, C. | +7

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