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An N-glycan on the C2 domain of JAGGED1 is important for Notch activation.
Sci Signal. 2022 Oct 11;15(755):eabo3507. doi: 10.1126/scisignal.abo3507. Epub 2022 Oct 11.
Sci Signal. 2022.
PMID: 36219682
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB.
Coppens S, et al.
Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15.
Am J Hum Genet. 2021.
PMID: 33861953
Free PMC article.
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Structural and functional studies of the EGF20-27 region reveal new features of the human Notch receptor important for optimal activation.
Bo Z, Rowntree T, Johnson S, Nurmahdi H, Suckling RJ, Hill J, Korona B, Weisshuhn PC, Sheppard D, Meng Y, Liang S, Lowe ED, Lea SM, Redfield C, Handford PA.
Bo Z, et al.
Structure. 2024 Dec 5;32(12):2325-2336.e5. doi: 10.1016/j.str.2024.10.012. Epub 2024 Nov 1.
Structure. 2024.
PMID: 39488203
Free article.
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