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Long-term outcomes in ALG13-Congenital Disorder of Glycosylation.
Shah R, Johnsen C, Pletcher BA, Edmondson AC, Kozicz T, Morava E. Shah R, et al. Among authors: morava e. Am J Med Genet A. 2023 Jun;191(6):1626-1631. doi: 10.1002/ajmg.a.63179. Epub 2023 Mar 17. Am J Med Genet A. 2023. PMID: 36930724 Free PMC article.
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).
Balakrishnan B, Altassan R, Budhraja R, Liou W, Lupo A, Bryant S, Mankouski A, Radenkovic S, Preston GJ, Pandey A, Boudina S, Kozicz T, Morava E, Lai K. Balakrishnan B, et al. Among authors: morava e. Transl Res. 2023 Jul;257:1-14. doi: 10.1016/j.trsl.2023.01.004. Epub 2023 Jan 26. Transl Res. 2023. PMID: 36709920
Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.
Tahata S, Weckwerth J, Ligezka A, He M, Lee HE, Heimbach J, Ibrahim SH, Kozicz T, Furuya K, Morava E. Tahata S, et al. Among authors: morava e. Mol Genet Metab. 2023 Apr;138(4):107559. doi: 10.1016/j.ymgme.2023.107559. Epub 2023 Mar 17. Mol Genet Metab. 2023. PMID: 36965289 Free PMC article.
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.
Radenkovic S, Johnsen C, Schulze A, Lail G, Guilder L, Schwartz K, Schultz M, Mercimek-Andrews S, Boyer S, Morava E. Radenkovic S, et al. Among authors: morava e. Ther Adv Rare Dis. 2023 Jan 26;4:26330040221150269. doi: 10.1177/26330040221150269. eCollection 2023 Jan-Dec. Ther Adv Rare Dis. 2023. PMID: 37181075 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: morava e. 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.
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. Among authors: morava e. Genes (Basel). 2023 Aug 4;14(8):1585. doi: 10.3390/genes14081585. Genes (Basel). 2023. PMID: 37628636 Free PMC article.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H; Undiagnosed Diseases Network; Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. Ward SK, et al. Am J Med Genet A. 2024 Jan;194(1):17-30. doi: 10.1002/ajmg.a.63399. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37743782
447 results