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Molecular Evolution, Neurodevelopmental Roles and Clinical Significance of HECT-Type UBE3 E3 Ubiquitin Ligases.
Ambrozkiewicz MC, Cuthill KJ, Harnett D, Kawabe H, Tarabykin V. Ambrozkiewicz MC, et al. Cells. 2020 Nov 10;9(11):2455. doi: 10.3390/cells9112455. Cells. 2020. PMID: 33182779 Free PMC article. Review.
The divergence of enzymatic executors of ubiquitination led to some 600-700 E3 ubiquitin ligases embedded in the human genome. Notably, mutations in around 13% of these genes are causative of severe neurological diseases. Despite this, molecular and cellular …
The divergence of enzymatic executors of ubiquitination led to some 600-700 E3 ubiquitin ligases embedded in the human …
UBE3B promotes breast cancer progression by antagonizing HIF-2alpha degradation.
Wang Y, Liu X, Wang M, Wang Y, Wang S, Jin L, Liu M, Zhou J, Chen Y. Wang Y, et al. Oncogene. 2023 Nov;42(46):3394-3406. doi: 10.1038/s41388-023-02842-z. Epub 2023 Oct 2. Oncogene. 2023. PMID: 37783786
Mutations in E3 ubiquitin ligase UBE3B have been linked to Kaufman Oculocerebrofacial Syndrome (KOS). Accumulating evidence indicates that UBE3B may play an important role in cancer. ...Intriguingly, the protein levels of UBE3B are upregu …
Mutations in E3 ubiquitin ligase UBE3B have been linked to Kaufman Oculocerebrofacial Syndrome (KOS). Accumulating evid …
VHL suppresses UBE3B-mediated breast tumor growth and metastasis.
Wang S, Li H, Liu X, Yin T, Li T, Zheng M, Liu M, Meng X, Zhou J, Wang Y, Chen Y. Wang S, et al. Cell Death Dis. 2024 Jun 24;15(6):446. doi: 10.1038/s41419-024-06844-x. Cell Death Dis. 2024. PMID: 38914543 Free PMC article.
UBE3B, identified as an oncoprotein, exhibits elevated protein levels in breast cancer. However, the impact of PTM on UBE3B remains unexplored. In this study, we show that VHL is a bona fide E3 ligase for UBE3B. ...
UBE3B, identified as an oncoprotein, exhibits elevated protein levels in breast cancer. However, the impact of PTM on UBE3B …
TRIB3 promotes MYC-associated lymphoma development through suppression of UBE3B-mediated MYC degradation.
Li K, Wang F, Yang ZN, Zhang TT, Yuan YF, Zhao CX, Yeerjiang Z, Cui B, Hua F, Lv XX, Zhang XW, Yu JJ, Liu SS, Yu JM, Shang S, Xiao Y, Hu ZW. Li K, et al. Nat Commun. 2020 Dec 9;11(1):6316. doi: 10.1038/s41467-020-20107-1. Nat Commun. 2020. PMID: 33298911 Free PMC article.
Mechanistically, TRIB3 interacts with MYC to suppress E3 ubiquitin ligase UBE3B-mediated MYC ubiquitination and degradation, which enhances MYC transcriptional activity, causing high proliferation and self-renewal of lymphoma cells. Use of a peptide to …
Mechanistically, TRIB3 interacts with MYC to suppress E3 ubiquitin ligase UBE3B-mediated MYC ubiquitination and …
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.
Albakheet A, Almuallami D, Almass R, Qari A, Kenana R, AlQudairy H, Huma R, Binomar H, Wakil SM, Alowain M, Colak D, Kaya N, AlSayed MD. Albakheet A, et al. Clin Dysmorphol. 2024 Apr 1;33(2):55-62. doi: 10.1097/MCD.0000000000000486. Epub 2024 Feb 15. Clin Dysmorphol. 2024. PMID: 38410982
Biallelic mutations in UBE3B cause Kaufman oculocerebrofacial syndrome (KOS; OMIM 244450) with a wide range of clinical manifestations. ...This study reports eight patients from Saudi Arabia with novel deleterious variants in UBE3B and adds to the phenotypic spectru …
Biallelic mutations in UBE3B cause Kaufman oculocerebrofacial syndrome (KOS; OMIM 244450) with a wide range of clinical manifestation …
A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens.
Liu W, Johansson Å, Rask-Andersen H, Rask-Andersen M. Liu W, et al. BMC Med. 2021 Dec 1;19(1):302. doi: 10.1186/s12916-021-02169-0. BMC Med. 2021. PMID: 34847940 Free PMC article.
METHODS: We performed genome-wide association studies (GWAS) for hearing loss-related traits in the UK Biobank (N = 362,396) and selected a high confidence set of ten hearing-associated gene products for staining in human cochlear samples: EYA4, LMX1A, PTK2/FAK, UBE3B, MMP …
METHODS: We performed genome-wide association studies (GWAS) for hearing loss-related traits in the UK Biobank (N = 362,396) and selected a …
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
Zaki MS, Otaify GA, Ismail S, Issa MY, El-Ruby MO, Sadek AA, Ashaat EA, El Saeidi SA, Aglan MS, Temtamy S, Abdel-Hamid MS. Zaki MS, et al. Am J Med Genet A. 2020 Dec;182(12):2857-2866. doi: 10.1002/ajmg.a.61857. Epub 2020 Sep 19. Am J Med Genet A. 2020. PMID: 32949109
It is caused by biallelic variants in the UBE3B gene with only 24 patients described worldwide. Herein, we report on the clinical, brain imaging and molecular findings of additional nine patients from six unrelated Egyptian families. ...Genetic studies revealed five novel …
It is caused by biallelic variants in the UBE3B gene with only 24 patients described worldwide. Herein, we report on the clinical, br …