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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: preston g. Genes (Basel). 2023 Aug 4;14(8):1585. doi: 10.3390/genes14081585. Genes (Basel). 2023. PMID: 37628636 Free PMC article.
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E. Ligezka AN, et al. Among authors: preston g. Ann Neurol. 2021 Dec;90(6):887-900. doi: 10.1002/ana.26245. Epub 2021 Oct 26. Ann Neurol. 2021. PMID: 34652821 Free PMC article.
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. 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.
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: preston g. 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.
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
Starosta RT, Tarnowski J, Vairo FPE, Raymond K, Preston G, Morava E. Starosta RT, et al. Among authors: preston g. Eur J Med Genet. 2020 Jul;63(7):103941. doi: 10.1016/j.ejmg.2020.103941. Epub 2020 May 11. Eur J Med Genet. 2020. PMID: 32407885 Free article.
358 results