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Page 1
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
Garapati K, Budhraja R, Saraswat M, Kim J, Joshi N, Sachdeva GS, Jain A, Ligezka AN, Radenkovic S, Ramarajan MG, Udainiya S, Raymond K, He M, Lam C, Larson A, Edmondson AC, Sarafoglou K, Larson NB, Freeze HH, Schultz MJ, Kozicz T, Morava E, Pandey A. Garapati K, et al. Among authors: ligezka an. JCI Insight. 2024 Apr 8;9(7):e172509. doi: 10.1172/jci.insight.172509. JCI Insight. 2024. PMID: 38587076 Free PMC article.
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Radenkovic S, Budhraja R, Klein-Gunnewiek T, King AT, Bhatia TN, Ligezka AN, Driesen K, Shah R, Ghesquière B, Pandey A, Kasri NN, Sloan SA, Morava E, Kozicz T. Radenkovic S, et al. Among authors: ligezka an. Cell Rep. 2024 Mar 26;43(3):113883. doi: 10.1016/j.celrep.2024.113883. Epub 2024 Mar 1. Cell Rep. 2024. PMID: 38430517 Free article.
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.
Ligezka AN, Budhraja R, Nishiyama Y, Fiesel FC, Preston G, Edmondson A, Ranatunga W, Van Hove JLK, Watzlawik JO, Springer W, Pandey A, Morava E, Kozicz T. Ligezka AN, et al. Genes (Basel). 2023 Aug 4;14(8):1585. doi: 10.3390/genes14081585. Genes (Basel). 2023. PMID: 37628636 Free PMC article.
Tracer metabolomics reveals the role of aldose reductase in glycosylation.
Radenkovic S, Ligezka AN, Mokashi SS, Driesen K, Dukes-Rimsky L, Preston G, Owuocha LF, Sabbagh L, Mousa J, Lam C, Edmondson A, Larson A, Schultz M, Vermeersch P, Cassiman D, Witters P, Beamer LJ, Kozicz T, Flanagan-Steet H, Ghesquière B, Morava E. Radenkovic S, et al. Among authors: ligezka an. Cell Rep Med. 2023 Jun 20;4(6):101056. doi: 10.1016/j.xcrm.2023.101056. Epub 2023 May 30. Cell Rep Med. 2023. PMID: 37257447 Free PMC article.
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.
Pascoal C, Ferreira I, Teixeira C, Almeida E, Slade A, Brasil S, Francisco R, Ligezka AN, Morava E, Plotkin H, Jaeken J, Videira PA, Barros L, Dos Reis Ferreira V. Pascoal C, et al. Among authors: ligezka an. Orphanet J Rare Dis. 2022 Oct 29;17(1):398. doi: 10.1186/s13023-022-02551-y. Orphanet J Rare Dis. 2022. PMID: 36309700 Free PMC article.
Patient-reported outcomes and quality of life in PMM2-CDG.
Ligezka AN, Mohamed A, Pascoal C, Ferreira VDR, Boyer S, Lam C, Edmondson A, Krzysciak W, Golebiowski R, Perez-Ortiz J, Morava E. Ligezka AN, et al. Mol Genet Metab. 2022 Jun;136(2):145-151. doi: 10.1016/j.ymgme.2022.04.002. Epub 2022 Apr 20. Mol Genet Metab. 2022. PMID: 35491370
Could distal variants in ALG13 lead to atypical clinical presentation?
Accogli A, Radenkovic S, Ranatunga W, Ligezka AN, Rivière JB, Morava E, Trakadis Y. Accogli A, et al. Among authors: ligezka an. Eur J Med Genet. 2022 Apr;65(4):104473. doi: 10.1016/j.ejmg.2022.104473. Epub 2022 Feb 28. Eur J Med Genet. 2022. PMID: 35240324
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Radenkovic S, Martinelli D, Zhang Y, Preston GJ, Maiorana A, Terracciano A, Dentici ML, Pisaneschi E, Novelli A, Ranatunga W, Ligezka AN, Ghesquière B, Deyle DR, Kozicz T, Pinto E Vairo F, Witters P, Morava E. Radenkovic S, et al. Among authors: ligezka an. Genet Med. 2022 Apr;24(4):894-904. doi: 10.1016/j.gim.2021.12.012. Epub 2022 Jan 15. Genet Med. 2022. PMID: 35042660 Free article.
15 results