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Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.
Westermann LM, Fleischhauer L, Vogel J, Jenei-Lanzl Z, Ludwig NF, Schau L, Morellini F, Baranowsky A, Yorgan TA, Di Lorenzo G, Schweizer M, de Souza Pinheiro B, Guarany NR, Sperb-Ludwig F, Visioli F, Oliveira Silva T, Soul J, Hendrickx G, Wiegert JS, Schwartz IVD, Clausen-Schaumann H, Zaucke F, Schinke T, Pohl S, Danyukova T. Westermann LM, et al. Among authors: di lorenzo g. Dis Model Mech. 2020 Nov 18;13(11):dmm046425. doi: 10.1242/dmm.046425. Dis Model Mech. 2020. PMID: 33023972 Free PMC article.
Site-1 protease and lysosomal homeostasis.
Velho RV, De Pace R, Klünder S, Di Lorenzo G, Schweizer M, Braulke T, Pohl S. Velho RV, et al. Among authors: di lorenzo g. Biochim Biophys Acta Mol Cell Res. 2017 Nov;1864(11 Pt B):2162-2168. doi: 10.1016/j.bbamcr.2017.06.023. Epub 2017 Jul 8. Biochim Biophys Acta Mol Cell Res. 2017. PMID: 28693924 Free article. Review.
Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells.
Di Lorenzo G, Velho RV, Winter D, Thelen M, Ahmadi S, Schweizer M, De Pace R, Cornils K, Yorgan TA, Grüb S, Hermans-Borgmeyer I, Schinke T, Müller-Loennies S, Braulke T, Pohl S. Di Lorenzo G, et al. Mol Cell Proteomics. 2018 Aug;17(8):1612-1626. doi: 10.1074/mcp.RA118.000720. Epub 2018 May 17. Mol Cell Proteomics. 2018. PMID: 29773673 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: di lorenzo g. 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.
[No title available]
[No authors listed] [No authors listed] PMID: 34005089
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. 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.
Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage.
Danyukova T, Alimy AR, Velho RV, Yorgan TA, Di Lorenzo G, von Kroge S, Tidow H, Wiegert JS, Hermans-Borgmeyer I, Schinke T, Rolvien T, Pohl S. Danyukova T, et al. Among authors: di lorenzo g. Bone. 2023 Dec;177:116927. doi: 10.1016/j.bone.2023.116927. Epub 2023 Oct 4. Bone. 2023. PMID: 37797712
Regulatory events controlling ER-phagy.
Iavarone F, Di Lorenzo G, Settembre C. Iavarone F, et al. Among authors: di lorenzo g. Curr Opin Cell Biol. 2022 Jun;76:102084. doi: 10.1016/j.ceb.2022.102084. Epub 2022 May 6. Curr Opin Cell Biol. 2022. PMID: 35533527 Review.
Role of FAM134 paralogues in endoplasmic reticulum remodeling, ER-phagy, and Collagen quality control.
Reggio A, Buonomo V, Berkane R, Bhaskara RM, Tellechea M, Peluso I, Polishchuk E, Di Lorenzo G, Cirillo C, Esposito M, Hussain A, Huebner AK, Hübner CA, Settembre C, Hummer G, Grumati P, Stolz A. Reggio A, et al. Among authors: di lorenzo g. EMBO Rep. 2021 Sep 6;22(9):e52289. doi: 10.15252/embr.202052289. Epub 2021 Aug 2. EMBO Rep. 2021. PMID: 34338405 Free PMC article.
750 results