Suchergebnisse - "Braulke, Thomas"

PubPharm (232)

1

Lysosomal enzyme trafficking : from molecular mechanisms to human diseases

enthalten in: Trends in cell biology | 2024

von Braulke, T. | Carette, J. | Palm, W.

2

The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection

enthalten in: Science (New York, N.Y.) | 2022

von Richards, C. | Jabs, S. | Qiao, W. | +22

3

The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection

enthalten in: Science | 8 Sep 2022

von Richards, C. | Jabs, S. | Qiao, W. | +22

4

Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI

enthalten in: Frontiers in physiology | 2022

von Nagpal, R. | Georgi, G. | Knauth, S. | +8

5

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

6

Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype

enthalten in: EMBO molecular medicine | 2021

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

7

Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype

enthalten in: EMBO Molecular Medicine | 2021

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

8

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

9

Role of the γ-subunit of GlcNAc-1-phosphotransferase in the pathogenesis of mucolipidosis type III

Erschienen: Dissertation, Hamburg, Universität Hamburg, 2018

von Di Lorenzo, G. | Braulke, T.

10

Glutarylierung mitochondrialer Proteine als neuer regulatorischer Pathomechanismus der Glutarazidurie Typ 1

Erschienen: Dissertation, Hamburg, Universität Hamburg, 2019

von Dörfler, A. | Braulke, T.

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