Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis

Ferrada MA, Savic S, Ospina Cardona D, Collins JC, Alessi H, Gutierrez-Rodrigues F, Uthaya Kumar DB, Wilson L, Goodspeed W, Topilow JS, Paik JJ, Poulter JA, Kermani TA, Koster MJ, Warrington K, Cargo CA, Tattersall RS, Duncan CJ, 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. Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood. 2022 Jul 6:blood.2022016985. doi: 10.1182/blood.2022016985. Epub ahead of print. PMID: 35793467.

VEXAS syndrome with systemic lupus erythematosus- expanding the spectrum of associated conditions

Sharma A, Naidu G, Deo P, Beck DB. VEXAS syndrome with systemic lupus erythematosus- expanding the spectrum of associated conditions. Arthritis Rheumatol. 2021 Aug 30. doi: 10.1002/art.41957. Epub ahead of print. PMID: 34463053.

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: fevers, myalgia, arthralgia, auricular chondritis, and erythema nodosum.

Dehghan N, Marcon KM, Sedlic T, Beck DB, Dutz JP, Chen LYC. Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: fevers, myalgia, arthralgia, auricular chondritis, and erythema nodosum. Lancet. 2021 Aug 14;398(10300):621. doi: 10.1016/S0140-6736(21)01430-6. PMID: 34391501.

Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.

Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB*, Grayson PC*. Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS. Arthritis Rheumatol. 2021 Oct;73(10):1886-1895. doi: 10.1002/art.41743. Epub 2021 Aug 31. PMID: 33779074.

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. Novel somatic mutations in UBA1 as a cause of VEXAS syndrome. Blood. 2021 Jul 1;137(26):3676-3681. doi: 10.1182/blood.2020010286. PMID: 33690815; PMCID: PMC8462400.

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

Beck DB*, Basar MA*, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D’Souza P, Bodurtha J, Mu W, Barañano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E; Undiagnosed Diseases Network, Matsumoto N, Inazawa J, Walkiewicz M, Õunap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A. Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. Sci Adv . 2021 Jan 20;7(4):eabe2116. doi: 10.1126/sciadv.abe2116. PMID: 33523931; PMCID: PMC7817106.

Deubiquitylases in developmental ubiquitin signaling and congenital diseases

Basar MA*, Beck DB*, Werner A. Deubiquitylases in developmental ubiquitin signaling and congenital diseases. Cell Death Differ. 2021 Feb;28(2):538-556. doi: 10.1038/s41418-020-00697-5. Epub 2020 Dec 17. PMID: 33335288; PMCID: PMC7862630.

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. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27. PMID: 33108101; PMCID: PMC7847551.

Susceptibility to severe COVID-19

Beck DB, Aksentijevich I. Susceptibility to severe COVID-19. Science. 2020 Oct 23;370(6515):404-405. doi: 10.1126/science.abe7591. PMID: 33093097.

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

Lalaoui N, Boyden SE, Oda H, Wood GM, Stone DL, Chau D, Liu L, Stoffels M, Kratina T, Lawlor KE, Zaal KJM, Hoffmann PM, Etemadi N, Shield-Artin K, Biben C, Tsai WL, Blake MD, Kuehn HS, Yang D, Anderton H, Silke N, Wachsmuth L, Zheng L, Moura NS, Beck DB, Gutierrez-Cruz G, Ombrello AK, Pinto-Patarroyo GP, Kueh AJ, Herold MJ, Hall C, Wang H, Chae JJ, Dmitrieva NI, McKenzie M, Light A, Barham BK, Jones A, Romeo TM, Zhou Q, Aksentijevich I, Mullikin JC, Gross AJ, Shum AK, Hawkins ED, Masters SL, Lenardo MJ, Boehm M, Rosenzweig SD, Pasparakis M, Voss AK, Gadina M, Kastner DL, Silke J. Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. Nature. 2020 Jan;577(7788):103-108. doi: 10.1038/s41586-019-1828-5. Epub 2019 Dec 11. PMID: 31827281; PMCID: PMC6930849.