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Medientyp
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Autor/in
- Danyukova, Tatyana
- Pohl, Sandra 4
- Schinke, Thorsten 3
- Storch, Stephan 3
- Velho, Renata Voltolini 3
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Sprache
- Englisch 11
11 Einträge gefunden
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Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage
- Danyukova, Tatyana
- Alimy, Assil Ramin
- Velho, Renata Voltolini
- Yorgan, Timur A.
- Di Lorenzo, Giorgia
- von Kroge, Simon
- Tidow, Henning
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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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Site-1 and site-2 proteases: A team of two in regulated proteolysis
2022 - Forschungsinformationssystem des UKE - frei zugänglich -
Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice
- Westermann, Lena Marie
- Baranowsky, Anke
- Di Lorenzo, Giorgia
- Danyukova, Tatyana
- Soul, Jamie
- Schwartz, Jean-Marc
- Hendrickx, Gretl
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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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Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype
- Atiskova, Yevgeniya
- Bartsch, Susanne
- Danyukova, Tatyana
- Becker, Elke
- Hagel, Christian
- Storch, Stephan
- Bartsch, Udo
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The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations
- Velho, Renata Voltolini
- Harms, Frederike L
- Danyukova, Tatyana
- Ludwig, Nataniel F
- Friez, Michael J
- Cathey, Sara S
- Filocamo, Mirella
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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 -
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Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation
- Danyukova, Tatyana
- Ariunbat, Khandsuren
- Thelen, Melanie
- Brocke-Ahmadinejad, Nahal
- Mole, Sara E
- Storch, Stephan