Tatyana Danyukova

发表

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

B. Tüysüz, M. Friez, M. Filocamo, 2019, Human mutation.

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

O. Kretz, E. Krüger, Marlies Sachs, 2020, Journal of the American Society of Nephrology : JASN.

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

S. Pohl, Tatyana Danyukova, Kenneth Schöneck, 2021, Biochimica et biophysica acta. Molecular cell research.

Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes

M. Schweizer, C. Meyer-Schwesinger, M. Amling, 2020, Human molecular genetics.

Toward Engineering the Mannose 6-Phosphate Elaboration Pathway in Plants for Enzyme Replacement Therapy of Lysosomal Storage Disorders

A. Kermode, S. Pohl, Xu He, 2019, Journal of clinical medicine.

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation

S. Storch, Melanie Thelen, S. Mole, 2018, Human molecular genetics.

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

T. Renné, M. Schweizer, M. Amling, 2021, Genetics in Medicine.

A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival.

T. Stauber, S. Storch, I. Braren, 2019, Molecular genetics and metabolism.

Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype

C. Hagel, S. Storch, U. Bartsch, 2019, Scientific Reports.

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia

G. Mortier, K. Girisha, A. Shukla, 2022, Human mutation.

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma

J. Simon Wiegert, H. Clausen‐Schaumann, M. Schweizer, 2020, Disease Models & Mechanisms.

Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice

J. Schwartz, S. Rose-John, M. Amling, 2021, Scientific Reports.

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

B. Tüysüz, H. Tidow, S. Pohl, 2020, Human mutation.

Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage.

J. Simon Wiegert, I. Hermans-Borgmeyer, T. Schinke, 2023, Bone.