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. Shared and distinct mechanisms of UBA1 inactivation across different diseases. EMBO J. 2024 Feb 15. doi: 10.1038/s44318-024-00046-z. Epub ahead of print. PMID: 38360993.

Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS

Wu Z, Gao S, Gao Q, Patel BA, Groarke EM, Feng X, Manley AL, Li H, Ospina Cardona D, Kajigaya S, Alemu L, Quinones Raffo D, Ombrello AK, Ferrada MA, Grayson PC, Calvo KR, Kastner DL, Beck DB, Young NS. Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS. Cell Rep Med. 2023 Aug 15;4(8):101160. doi: 10.1016/j.xcrm.2023.101160. PMID: 37586319; PMCID: PMC10439277.

Spectrum of clonal hematopoiesis in VEXAS syndrome

Gutierrez-Rodrigues F, Kusne Y, Fernandez J, Lasho TL, Shalhoub RN, Ma X, Alessi H, Finke CM, Koster MJ, Mangaonkar AA, Warrington KJ, Begna K, Xie Z, Ombrello AK, Viswanatha DS, Ferrada MA, Wilson L, Go RS, Kourelis TV, Reichard KK, Olteanu H, Darden I, Hironaka D, Alemu L, Kajigaya S, Calado RT, Groarke EM, Rosenzweig S, Kastner DL, Calvo KR, Wu CO, Grayson PC, Young NS, Beck DB, Patel BA, Patnaik MM. Spectrum of clonal hematopoiesis in VEXAS syndrome. Blood. 2023 Apr 21:blood.2022018774. doi: 10.1182/blood.2022018774. Epub ahead of print. PMID: 37084382.

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population

Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. JAMA. 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. PMID: 36692560.

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.