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Page 1
Site-1 and site-2 proteases: A team of two in regulated proteolysis.
Danyukova T, Schöneck K, Pohl S. Danyukova T, et al. Biochim Biophys Acta Mol Cell Res. 2022 Jan;1869(1):119138. doi: 10.1016/j.bbamcr.2021.119138. Epub 2021 Oct 5. Biochim Biophys Acta Mol Cell Res. 2022. PMID: 34619164 Free article. Review.
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.
Holling T, Bhavani GS, von Elsner L, Shah H, Kausthubham N, Bhattacharyya SS, Shukla A, Mortier GR, Schinke T, Danyukova T, Pohl S, Kutsche K, Girisha KM. Holling T, et al. Among authors: danyukova t. Hum Mutat. 2022 May;43(5):625-642. doi: 10.1002/humu.24368. Epub 2022 Mar 21. Hum Mutat. 2022. PMID: 35266227
Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes.
Hendrickx G, Danyukova T, Baranowsky A, Rolvien T, Angermann A, Schweizer M, Keller J, Schröder J, Meyer-Schwesinger C, Muschol N, Paganini C, Rossi A, Amling M, Pohl S, Schinke T. Hendrickx G, et al. Among authors: danyukova t. Hum Mol Genet. 2020 Mar 27;29(5):803-816. doi: 10.1093/hmg/ddaa006. Hum Mol Genet. 2020. PMID: 31943020 Free PMC article.
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.
Di Lorenzo G, Westermann LM, Yorgan TA, Stürznickel J, Ludwig NF, Ammer LS, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer SR, Board TN, Foster A, Mercer J, Tylee K, Velho RV, Schweizer M, Renné T, Braulke T, Randon DN, Sperb-Ludwig F, de Camargo Pinto LL, Moreno CA, Cavalcanti DP, Amling M, Kutsche K, Winter D, Muschol NM, Schwartz IVD, Rolvien T, Danyukova T, Schinke T, Pohl S. Di Lorenzo G, et al. Among authors: danyukova t. Genet Med. 2021 Dec;23(12):2369-2377. doi: 10.1038/s41436-021-01285-9. Epub 2021 Aug 2. Genet Med. 2021. PMID: 34341521 Free PMC article.
Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria.
Sachs W, Sachs M, Krüger E, Zielinski S, Kretz O, Huber TB, Baranowsky A, Westermann LM, Voltolini Velho R, Ludwig NF, Yorgan TA, Di Lorenzo G, Kollmann K, Braulke T, Schwartz IV, Schinke T, Danyukova T, Pohl S, Meyer-Schwesinger C. Sachs W, et al. Among authors: danyukova t. J Am Soc Nephrol. 2020 Aug;31(8):1796-1814. doi: 10.1681/ASN.2019090960. Epub 2020 Jul 8. J Am Soc Nephrol. 2020. PMID: 32641396 Free PMC article.
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