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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. Among authors: ahmadi s. 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.
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: ahmadi s. 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.
CRISPR/Cas System: A Powerful Strategy to Improve Monogenic Human Diseases as Therapeutic Delivery; Current Applications and Challenges.
Saberi F, Yousefi-Najafabadi Z, Shams F, Dehghan Z, Ahmadi S, Pilehchi T, Noori E, Esmaeelzadeh Z, Bazgiri M, Mohammadi R, Khani F, Sameni M, Moradbeigi P, Kardar GA, Salehi M, Teng Y, Jajarmi V. Saberi F, et al. Among authors: ahmadi s. Curr Gene Ther. 2025 Jan 7. doi: 10.2174/0115665232345516241119070150. Online ahead of print. Curr Gene Ther. 2025. PMID: 39781718
1,294 results