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Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Beck DB, et al. Among authors: collins jc. N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27. N Engl J Med. 2020. PMID: 33108101 Free PMC article.
Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.
Poulter JA, Collins JC, Cargo C, De Tute RM, Evans P, Ospina Cardona D, Bowen DT, Cunnington JR, Baguley E, Quinn M, Green M, McGonagle D, Beck DB, Werner A, Savic S. Poulter JA, et al. Among authors: collins jc. Blood. 2021 Jul 1;137(26):3676-3681. doi: 10.1182/blood.2020010286. Blood. 2021. PMID: 33690815 Free PMC article.
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis.
Ferrada MA, Savic S, Cardona DO, Collins JC, Alessi H, Gutierrez-Rodrigues F, Kumar DBU, Wilson L, Goodspeed W, Topilow JS, Paik JJ, Poulter JA, Kermani TA, Koster MJ, Warrington KJ, Cargo C, Tattersall RS, Duncan CJA, Cantor A, Hoffmann P, Payne EM, Bonnekoh H, Krause K, Cowen EW, Calvo KR, Patel BA, Ombrello AK, Kastner DL, Young NS, Werner A, Grayson PC, Beck DB. Ferrada MA, et al. Among authors: collins jc. Blood. 2022 Sep 29;140(13):1496-1506. doi: 10.1182/blood.2022016985. Blood. 2022. PMID: 35793467 Free PMC article.
Shared and distinct mechanisms of UBA1 inactivation across different diseases.
Collins JC, Magaziner SJ, English M, Hassan B, Chen X, Balanda N, Anderson M, Lam A, Fernandez-Pol S, Kwong B, Greenberg PL, Terrier B, Likhite ME, Kosmider O, Wang Y, Samara NL, Walters KJ, Beck DB, Werner A. Collins JC, et al. EMBO J. 2024 May;43(10):1919-1946. doi: 10.1038/s44318-024-00046-z. Epub 2024 Feb 15. EMBO J. 2024. PMID: 38360993 Free PMC article.
190 results