| VHL suppresses UBE3B-mediated breast tumor growth and metastasis. | 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., Free PMC Article | 07/12/2024 |
| Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population. | 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. | 03/6/2024 |
| UBE3B promotes breast cancer progression by antagonizing HIF-2alpha degradation. | UBE3B promotes breast cancer progression by antagonizing HIF-2α degradation.
Wang Y, Liu X, Wang M, Wang Y, Wang S, Jin L, Liu M, Zhou J, Chen Y. | 11/14/2023 |
| Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum. | 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. | 06/26/2021 |
| TRIB3 promotes MYC-associated lymphoma development through suppression of UBE3B-mediated MYC degradation. | 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., Free PMC Article | 01/9/2021 |
| we present four patients with five novel UBE3B mutations and propose the inclusion of clinical features to the characteristics of Kaufman oculocerebrofacial syndrome, including prominence of the cheeks and limb anomalies. | Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
Yilmaz R, Szakszon K, Altmann A, Altunoglu U, Senturk L, McGuire M, Calabrese O, Madan-Khetarpal S, Basel-Vanagaite L, Borck G. | 06/23/2018 |
| studies demonstrate that UBE3B is an E3 ubiquitin ligase and reveal that the enzyme is regulated by calmodulin. Furthermore, the modulation of UBE3B via calmodulin and calcium implicates a role for calcium signaling in mitochondrial protein ubiquitylation, protein turnover, and disease | UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.
Braganza A, Li J, Zeng X, Yates NA, Dey NB, Andrews J, Clark J, Zamani L, Wang XH, St Croix C, O'Sullivan R, Garcia-Exposito L, Brodsky JL, Sobol RW, Braganza A, Li J, Zeng X, Yates NA, Dey NB, Andrews J, Clark J, Zamani L, Wang XH, St Croix C, O'Sullivan R, Garcia-Exposito L, Brodsky JL, Sobol RW., Free PMC Articles: PMC5313114, PMC5313114 | 07/8/2017 |
| Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain | Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM., Free PMC Article | 06/24/2017 |
| The E3 ligase activity of UBE3B is regulated by its interaction with calmodulin via the N-terminal IQ domain. | UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.
Braganza A, Li J, Zeng X, Yates NA, Dey NB, Andrews J, Clark J, Zamani L, Wang XH, St Croix C, O'Sullivan R, Garcia-Exposito L, Brodsky JL, Sobol RW, Braganza A, Li J, Zeng X, Yates NA, Dey NB, Andrews J, Clark J, Zamani L, Wang XH, St Croix C, O'Sullivan R, Garcia-Exposito L, Brodsky JL, Sobol RW., Free PMC Articles: PMC5313114, PMC5313114 | 04/19/2017 |
| UBE3B encodes a widely expressed protein ubiquitin ligase E3B, which, when mutated in both alleles, causes Kaufman oculocerebrofacial syndrome. | Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.
Pedurupillay CR, Barøy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Strømme P, Misceo D. | 04/30/2016 |
| UBE3B mutations cause a clinically recognizable and possibly underdiagnosed syndrome named the Kaufman oculocerebrofacial syndrome | Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez KD, Sticht H, Boddaert N, Désir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G. | 08/9/2014 |
| data provide evidence that Kaufman oculocerebrofacial syndrome is caused by UBE3B loss of function, and further demonstrate the impact of misregulation of protein ubiquitination on development and growth. | Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.
Flex E, Ciolfi A, Caputo V, Fodale V, Leoni C, Melis D, Bedeschi MF, Mazzanti L, Pizzuti A, Tartaglia M, Zampino G., Free PMC Article | 02/22/2014 |
| Our data reveal the pleiotropic effects of UBE3B deficiency and reinforce the physiological importance of ubiquitination in neuronal development and function in mammals. | Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nürnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G., Free PMC Article | 02/16/2013 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| the apparent occurrence of an unusual TG 3' splice site in intron 25 is discussed | Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N, Schreiber S, Backofen R, Platzer M., Free PMC Article | 10/9/2007 |
| UBE3B is a novel E3 ligase, with a HECT-domain which constitutes the active site for ubiquitin transfer | Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.
Gong TW, Huang L, Warner SJ, Lomax MI. | 01/21/2010 |