E-LIB Suche - Ergebnisse für: Danyukova, Tatyana

1

Mice heterozygous for an osteogenesis imperfecta-linked MBT..:

Danyukova, Tatyana ; Alimy, Assil-Ramin ; Velho, Renata Voltolini...
Bone. 177 (2023) - p. 116927 , 2023

2

Site-1 and site-2 proteases: A team of two in regulated pro..:

Danyukova, Tatyana ; Schöneck, Kenneth ; Pohl, Sandra
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1869 (2022) 1 - p. 119138 , 2022

Link: https://doi.org/10.1016/..

3

A homozygous hypomorphicBNIP1variant causes an increase in ..:

Holling, Tess ; Bhavani, Gandham S. ; Elsner, Leonie...
Human Mutation. 43 (2022) 5 - p. 625-642 , 2022

Link: https://doi.org/10.1002/..

4

Pathogenic variants in GNPTAB and GNPTG encoding distinct s..:

Di Lorenzo, Giorgia ; Westermann, Lena M. ; Yorgan, Timur A....
Genetics in Medicine. 23 (2021) 12 - p. 2369-2377 , 2021

Link: https://doi.org/10.1038/..

5

Transgenic inhibition of interleukin-6 trans-signaling does..:

Westermann, Lena Marie ; Baranowsky, Anke ; Di Lorenzo, Giorgia...
Scientific Reports. 11 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

6

Imbalanced cellular metabolism compromises cartilage homeos..:

Westermann, Lena Marie ; Fleischhauer, Lutz ; Vogel, Jonas...
Disease Models & Mechanisms. 13 (2020) 11 - p. , 2020

Link: https://doi.org/10.1242/..

7

Enzyme replacement therapy in mice lacking arylsulfatase B ..:

Schinke, Thorsten ; Pohl, Sandra ; Amling, Michael...
Human Molecular Genetics. 29 (2020) 5 - p. 803-816 , 2020

Link: https://doi.org/10.1093/..

8

Toward Engineering the Mannose 6-Phosphate Elaboration Path..:

Zeng, Ying ; He, Xu ; Danyukova, Tatyana..
Journal of Clinical Medicine. 8 (2019) 12 - p. 2190 , 2019

Link: https://doi.org/10.3390/..

9

A newly generated neuronal cell model of CLN7 disease revea..:

von Kleist, Lisa ; Ariunbat, Khandsuren ; Braren, Ingke...
Molecular Genetics and Metabolism. 126 (2019) 2 - p. 196-205 , 2019

Link: https://doi.org/10.1016/..

10

Combined in vitro and in silico analyses of missense mutati..:

Danyukova, Tatyana ; Ludwig, Nataniel F. ; Velho, Renata V....
Human Mutation. 41 (2019) 1 - p. 133-139 , 2019

Link: https://doi.org/10.1002/..

11

The lysosomal storage disorders mucolipidosis type II, type..:

Velho, Renata Voltolini ; Harms, Frederike L. ; Danyukova, Tatyana...
Human Mutation. , 2019

Link: https://doi.org/10.1002/..

12

Mice deficient in the lysosomal enzyme palmitoyl-protein th..:

Atiskova, Yevgeniya ; Bartsch, Susanne ; Danyukova, Tatyana...
Scientific Reports. 9 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..

13

Loss of CLN7 results in depletion of soluble lysosomal prot..:

Danyukova, Tatyana ; Ariunbat, Khandsuren ; Thelen, Melanie...
Human Molecular Genetics. 27 (2018) 10 - p. 1711-1722 , 2018

Link: https://doi.org/10.1093/..

14

Transgenic inhibition of interleukin-6 trans-signaling does..:

Westermann, Lena Marie ; Baranowsky, Anke ; Di Lorenzo, Giorgia...
Westermann , L M , Baranowsky , A , Di Lorenzo , G , Danyukova , T , Soul , J , Schwartz , J-M , Hendrickx , G , Amling , M , Rose-John , S , Garbers , C , Schinke , T & Pohl , S 2021 , ' Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice ' , Scientific Reports , vol. 11 , no. 1 , 3556 . https://doi.org/10.1038/s41598-021-82802-3. , 2021

Link: https://research.manches..

15

Combined in vitro and in silico analyses of missense mutati..:

Danyukova, Tatyana ; Ludwig, Nataniel ; Velho, Renata...
Human Mutation. , 2020

Link: https://doi.org/10.1002/..