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Page 1
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
Blommaert E, Péanne R, Cherepanova NA, Rymen D, Staels F, Jaeken J, Race V, Keldermans L, Souche E, Corveleyn A, Sparkes R, Bhattacharya K, Devalck C, Schrijvers R, Foulquier F, Gilmore R, Matthijs G. Blommaert E, et al. Among authors: cherepanova na. Proc Natl Acad Sci U S A. 2019 May 14;116(20):9865-9870. doi: 10.1073/pnas.1817815116. Epub 2019 Apr 29. Proc Natl Acad Sci U S A. 2019. PMID: 31036665 Free PMC article.
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.
Blommaert E, Cherepanova NA, Staels F, Wilson MP, Gilmore R, Schrijvers R, Jaeken J, Foulquier F, Matthijs G. Blommaert E, et al. Among authors: cherepanova na. Hum Genet. 2022 Jul;141(7):1279-1286. doi: 10.1007/s00439-021-02400-1. Epub 2022 Feb 19. Hum Genet. 2022. PMID: 35182234
One flexible loop in OST lassos both substrates.
Shrimal S, Cherepanova NA, Gilmore R. Shrimal S, et al. Among authors: cherepanova na. Nat Struct Mol Biol. 2017 Dec 7;24(12):1009-1010. doi: 10.1038/nsmb.3508. Nat Struct Mol Biol. 2017. PMID: 29215637 No abstract available.
18 results