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PLCG2 variants in cherubism.
Chester JG, Carcamo B, Gudis DA, Bustamante D, Eisig SB, Ombrello MJ, Chung WK, Milner JD. Chester JG, et al. J Allergy Clin Immunol. 2024 Dec;154(6):1554-1558. doi: 10.1016/j.jaci.2024.08.016. Epub 2024 Aug 27. J Allergy Clin Immunol. 2024. PMID: 39197752 Free PMC article.
BACKGROUND: Cherubism is most commonly caused by rare heterozygous gain-of-function (GOF) missense variants in SH3BP2, which appear to signal through phospholipase C gamma 2 (PLCG2) to cause excessive osteoclast activity leading to expansile lesions in facial bones in chil …
BACKGROUND: Cherubism is most commonly caused by rare heterozygous gain-of-function (GOF) missense variants in SH3BP2, which appear t …
PARsylation-mediated ubiquitylation: lessons from rare hereditary disease Cherubism.
Matsumoto Y, Rottapel R. Matsumoto Y, et al. Trends Mol Med. 2023 May;29(5):390-405. doi: 10.1016/j.molmed.2023.02.001. Epub 2023 Mar 20. Trends Mol Med. 2023. PMID: 36948987 Free article. Review.
The steady-state levels of the adaptor protein SH3-domain binding protein 2 (3BP2) is negatively regulated by tankyrase (PARP5), which coordinates ubiquitylation of 3BP2 by the E3-ligase ring finger protein 146 (RNF146). 3BP2 …
The steady-state levels of the adaptor protein SH3-domain binding protein 2 (3BP2) is negatively r …
SH3BP2-related fibro-osseous disorders of the maxilla and mandible: A systematic review.
Kueper J, Tsimbal C, Olsen BR, Kaban L, Liao EC. Kueper J, et al. Int J Oral Maxillofac Surg. 2022 Jan;51(1):54-61. doi: 10.1016/j.ijom.2021.04.001. Epub 2021 Apr 30. Int J Oral Maxillofac Surg. 2022. PMID: 33941395
The aim of this review was to compile and analyze all cases of SH3BP2-related cherubism and cherubism-like disorders. Thirty publications were identified, including 92 individuals from 34 families, who were diagnosed with SH3BP2-related fibro-osseous lesions of the …
The aim of this review was to compile and analyze all cases of SH3BP2-related cherubism and cherubism-like disorders. Thirty publicat …
Scaffold protein SH3BP2 signalosome is pivotal for immune activation in nephrotic syndrome.
Srivastava T, Garola RE, Zhou J, Boinpelly VC, Rezaiekhaligh MH, Joshi T, Jiang Y, Ebadi D, Sharma S, Sethna C, Staggs VS, Sharma R, Gipson DS, Hao W, Wang Y, Mariani LH, Hodgin JB, Rottapel R, Yoshitaka T, Ueki Y, Sharma M. Srivastava T, et al. JCI Insight. 2024 Feb 8;9(3):e170055. doi: 10.1172/jci.insight.170055. JCI Insight. 2024. PMID: 38127456 Free PMC article.
Bioinformatic analysis of human glomerular transcriptome (Nephrotic Syndrome Study Network cohort) revealed upregulated SH3BP2 in MCD and FSGS. The SH3BP2 signalosome score and downstream MyD88, TRIF, and NFATc1 were significantly upregulated in MCD and FSGS. ...Sh3 …
Bioinformatic analysis of human glomerular transcriptome (Nephrotic Syndrome Study Network cohort) revealed upregulated SH3BP2 in MCD …
E3-ubiquitin ligases and recent progress in osteoimmunology.
Asano Y, Matsumoto Y, Wada J, Rottapel R. Asano Y, et al. Front Immunol. 2023 Feb 23;14:1120710. doi: 10.3389/fimmu.2023.1120710. eCollection 2023. Front Immunol. 2023. PMID: 36911671 Free PMC article. Review.
Dysregulation of the E3-ubiquitin ligase RNF146-mediated degradation of the adaptor protein 3BP2 (SH3 domain-binding protein 2) causes cherubism, an autosomal dominant disorder associated with severe inflammatory craniofacial dysmorphia s …
Dysregulation of the E3-ubiquitin ligase RNF146-mediated degradation of the adaptor protein 3BP2 (SH3 domain-binding …
SYK-3BP2 Pathway Activity in Parenchymal and Myeloid Cells Is a Key Pathogenic Factor in Metabolic Steatohepatitis.
Luci C, Vieira E, Bourinet M, Rousseau D, Bonnafous S, Patouraux S, Lefevre L, Larbret F, Prod'homme V, Iannelli A, Tran A, Anty R, Bailly-Maitre B, Deckert M, Gual P. Luci C, et al. Cell Mol Gastroenterol Hepatol. 2022;13(1):173-191. doi: 10.1016/j.jcmgh.2021.08.004. Epub 2021 Aug 16. Cell Mol Gastroenterol Hepatol. 2022. PMID: 34411785 Free PMC article.
In primary hepatocytes, the targeting of 3BP2 or SYK strongly decreased the lipopolysaccharide-mediated inflammatory mediator expression and 3BP2-regulated SYK expression. In homozygous Sh3bp2(KI/KI) mice, the chronic inflammation mediated by the proteasome-r …
In primary hepatocytes, the targeting of 3BP2 or SYK strongly decreased the lipopolysaccharide-mediated inflammatory mediator express …
Adaptor protein 3BP2 regulates gene expression in addition to the ubiquitination and proteolytic activity of MALT1 in dectin-1-stimulated cells.
Tsubokawa A, Chihara K, Chihara Y, Takeuchi K, Fujieda S, Sada K. Tsubokawa A, et al. J Biol Chem. 2024 Dec;300(12):107980. doi: 10.1016/j.jbc.2024.107980. Epub 2024 Nov 13. J Biol Chem. 2024. PMID: 39542253 Free PMC article.
Recently, we reported that the adaptor protein SH3 domain-binding protein 2 (3BP2) is required for the dectin-1-induced production of cytokines and activation of NF-kappaB, although the relationship between 3BP2 and CARD9 in dectin …
Recently, we reported that the adaptor protein SH3 domain-binding protein 2 (3BP2) is required for …
Cereblon induces G3BP2 neosubstrate degradation using molecular surface mimicry.
Annunziato S, Quan C, Donckele EJ, Lamberto I, Bunker RD, Zlotosch M, Schwander L, Murthy A, Wiedmer L, Staehly C, Matysik M, Gilberto S, Kapsitidou D, Wible D, De Donatis GM, Trenh P, SriRamaratnam R, Strande V, Lieberherr R, Lyon D, Steiner D, Silva J, Almeida R, Dolgikh E, DeMarco B, Tsai J, Sadok A, Zarayskiy V, Walter M, Tiedt R, Lumb KJ, Bonenfant D, Fasching B, Castle JC, Townson SA, Gainza P, Petzold G. Annunziato S, et al. Nat Struct Mol Biol. 2026 Mar;33(3):479-487. doi: 10.1038/s41594-025-01738-8. Epub 2026 Jan 20. Nat Struct Mol Biol. 2026. PMID: 41559416 Free PMC article.
Clinically effective MGDs bind cereblon (CRBN), a substrate receptor of the Cullin 4-RING E3 ubiquitin ligase (CRL4(CRBN)), and recruit neosubstrates to an MGD-induced neosurface on the CRBN CULT domain through molecular mimicry of a natural CRBN degron. Here, we identify G3BP2 ( …
Clinically effective MGDs bind cereblon (CRBN), a substrate receptor of the Cullin 4-RING E3 ubiquitin ligase (CRL4(CRBN)), and recruit neos …
Pharmacologic inhibition of PARP5, but not that of PARP1 or 2, promotes cytokine production and osteoclastogenesis through different pathways.
Asano Y, Matsumoto Y, He F, Katsuyama T, Katsuyama E, Tsuji S, Kamioka H, La Rose J, Rottapel R, Wada J. Asano Y, et al. Clin Exp Rheumatol. 2023 Sep;41(9):1735-1745. doi: 10.55563/clinexprheumatol/qf55h8. Epub 2023 Jan 23. Clin Exp Rheumatol. 2023. PMID: 36700637
We also found that pharmacologic inhibition of PARP5 stabilises the adaptor protein 3BP2, a substrate of PARP5, and that accelerated cytokine production induced by PARP5 inhibition was rescued in 3BP2-deleted macrophages. ...Lastly, we found that PARP5 inhibition in …
We also found that pharmacologic inhibition of PARP5 stabilises the adaptor protein 3BP2, a substrate of PARP5, and that accelerated …
Overexpression of DEL-1 Downregulates SH3BP2 Expression and Inhibits Porphyromonas gingivalis-induced Gingival Inflammation In Vivo and In Vitro.
Zeng L, Ye F, Jin Y, Luo Y, Zhu H. Zeng L, et al. Oral Health Prev Dent. 2022 Apr 27;20:199-206. doi: 10.3290/j.ohpd.b2960781. Oral Health Prev Dent. 2022. PMID: 35481344 Free PMC article.
This study aimed to investigate the effect of DEL-1 on SH3 Domain Binding Protein 2 (SH3BP2) expression, and to explore the regulatory role of DEL-1 in periodontal inflammation. ...DEL-1 inhibited the expression of NAMPT and SH3BP2 …
This study aimed to investigate the effect of DEL-1 on SH3 Domain Binding Protein 2 (SH3BP2) expre …
28 results