| Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome. | Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome.
Krzeski JC, Judson MC, Philpot BD., | 09/21/2024 |
| Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey. | Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.
Bruns R, Liaqat K, Nasir A, Treat K, Murthy VS, Mantcheva L, Torres W, Conboy E, Vetrini F. | 05/10/2024 |
| CircUBE3A(2,3,4,5) promotes adenylate-uridylate-rich binding factor 1 nuclear translocation to suppress prostate cancer metastasis. | CircUBE3A(2,3,4,5) promotes adenylate-uridylate-rich binding factor 1 nuclear translocation to suppress prostate cancer metastasis.
Wei Z, Zhang C, Song Y, Han D, Liu J, Song X, Chao F, Wang S, Xu G, Chen G. | 04/12/2024 |
| LOC644656 promotes cisplatin resistance in cervical cancer by recruiting ZNF143 and activating the transcription of E6-AP. | LOC644656 promotes cisplatin resistance in cervical cancer by recruiting ZNF143 and activating the transcription of E6-AP.
Li M, Chen J, Zhang H, Zhang Y, Wang J, Shen Z, Chen Y, Hou W, Chi C. | 03/15/2024 |
| UBE3A and MCM6 synergistically regulate the proliferation and migration of lung adenocarcinoma cells. | UBE3A and MCM6 synergistically regulate the proliferation and migration of lung adenocarcinoma cells.
Luo Y, Yang Y, Yang C, Li C, Hu R, Geng W, Kang X, Lin H., Free PMC Article | 09/6/2023 |
| Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases. | Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases.
Chaudhary P, Proulx J, Park IW., Free PMC Article | 08/30/2023 |
| The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons. | The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons.
Elamin M, Dumarchey A, Stoddard C, Robinson TM, Cowie C, Gorka D, Chamberlain SJ, Levine ES., Free PMC Article | 04/19/2023 |
| Effects of UBE3A on Cell and Liver Metabolism through the Ubiquitination of PDHA1 and ACAT1. | Effects of UBE3A on Cell and Liver Metabolism through the Ubiquitination of PDHA1 and ACAT1.
Peng K, Wang S, Liu R, Zhou L, Jeong GH, Jeong IH, Liu X, Kiyokawa H, Xue B, Zhao B, Shi H, Yin J., Free PMC Article | 04/10/2023 |
| Tumor Suppressor p53 Inhibits Hepatitis B Virus Replication by Downregulating HBx via E6AP-Mediated Proteasomal Degradation in Human Hepatocellular Carcinoma Cell Lines. | Tumor Suppressor p53 Inhibits Hepatitis B Virus Replication by Downregulating HBx via E6AP-Mediated Proteasomal Degradation in Human Hepatocellular Carcinoma Cell Lines.
Lim HY, Han J, Yoon H, Jang KL., Free PMC Article | 11/12/2022 |
| UBE3A deletion enhances the efficiency of immunotherapy in non-small-cell lung cancer. | UBE3A deletion enhances the efficiency of immunotherapy in non-small-cell lung cancer.
Zhang N, Shen J, Gou L, Cao M, Ding W, Luo P, Zhang J., Free PMC Article | 05/14/2022 |
| UBE3A activates the NOTCH pathway and promotes esophageal cancer progression by degradation of ZNF185. | UBE3A activates the NOTCH pathway and promotes esophageal cancer progression by degradation of ZNF185.
Zheng Z, Zhang B, Yu H, Li S, Song N, Jin X, Li J., Free PMC Article | 03/19/2022 |
| Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells. | Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells.
Adhikari A, Copping NA, Beegle J, Cameron DL, Deng P, O'Geen H, Segal DJ, Fink KD, Silverman JL, Anderson JS., Free PMC Article | 03/12/2022 |
| Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology. | Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.
Pandya NJ, Wang C, Costa V, Lopatta P, Meier S, Zampeta FI, Punt AM, Mientjes E, Grossen P, Distler T, Tzouros M, Martà Y, Banfai B, Patsch C, Rasmussen S, Hoener M, Berrera M, Kremer T, Dunkley T, Ebeling M, Distel B, Elgersma Y, Jagasia R., Free PMC Article | 03/5/2022 |
| Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations. | Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.
Bossuyt SNV, Punt AM, de Graaf IJ, van den Burg J, Williams MG, Heussler H, Elgersma Y, Distel B., Free PMC Article | 02/5/2022 |
| Genotype-Phenotype Correlations in Angelman Syndrome. | Genotype-Phenotype Correlations in Angelman Syndrome.
Yang L, Shu X, Mao S, Wang Y, Du X, Zou C., Free PMC Article | 02/5/2022 |
| Novel UBE3A pathogenic variant in a large Georgian family produces non-convulsive status epilepticus responsive to ketogenic diet. | Novel UBE3A pathogenic variant in a large Georgian family produces non-convulsive status epilepticus responsive to ketogenic diet.
Melikishvili G, Bienvenu T, Tabatadze N, Gachechiladze T, Kurua E, Gverdtsiteli S, Melikishvili M, Dulac O. | 01/1/2022 |
| Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis. | Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.
Weston KP, Gao X, Zhao J, Kim KS, Maloney SE, Gotoff J, Parikh S, Leu YC, Wu KP, Shinawi M, Steimel JP, Harrison JS, Yi JJ., Free PMC Article | 12/25/2021 |
| Regulation of O-Linked N-Acetyl Glucosamine Transferase (OGT) through E6 Stimulation of the Ubiquitin Ligase Activity of E6AP. | Regulation of O-Linked N-Acetyl Glucosamine Transferase (OGT) through E6 Stimulation of the Ubiquitin Ligase Activity of E6AP.
Peng K, Liu R, Jia C, Wang Y, Jeong GH, Zhou L, Hu R, Kiyokawa H, Yin J, Zhao B., Free PMC Article | 11/6/2021 |
| The ubiquitin ligase E6AP facilitates HDAC6-mediated deacetylation and degradation of tumor suppressors. | The ubiquitin ligase E6AP facilitates HDAC6-mediated deacetylation and degradation of tumor suppressors.
Zhang Y, Chen Z, Lin J, Liu J, Lin Y, Li H, Xi Y, Wei B, Ding L, Ye Q., Free PMC Article | 10/16/2021 |
| Evaluation of UBE3A antibodies in mice and human cerebral organoids. | Evaluation of UBE3A antibodies in mice and human cerebral organoids.
Sen D, Drobna Z, Keung AJ., Free PMC Article | 10/16/2021 |
| Cryo-EM Reveals Unanchored M1-Ubiquitin Chain Binding at hRpn11 of the 26S Proteasome. | Cryo-EM Reveals Unanchored M1-Ubiquitin Chain Binding at hRpn11 of the 26S Proteasome.
Chen X, Dorris Z, Shi D, Huang RK, Khant H, Fox T, de Val N, Williams D, Zhang P, Walters KJ., Free PMC Article | 10/16/2021 |
| Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms. | Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.
Zampeta FI, Sonzogni M, Niggl E, Lendemeijer B, Smeenk H, de Vrij FMS, Kushner SA, Distel B, Elgersma Y., Free PMC Article | 08/28/2021 |
| Abundance and localization of human UBE3A protein isoforms. | Abundance and localization of human UBE3A protein isoforms.
Sirois CL, Bloom JE, Fink JJ, Gorka D, Keller S, Germain ND, Levine ES, Chamberlain SJ., Free PMC Article | 08/28/2021 |
| Identification of UBE3A Protein in CSF and Extracellular Space of the Hippocampus Suggest a Potential Novel Function in Synaptic Plasticity. | Identification of UBE3A Protein in CSF and Extracellular Space of the Hippocampus Suggest a Potential Novel Function in Synaptic Plasticity.
Dodge A, Willman J, Willman M, Nenninger AW, Morrill NK, Lamens K, Greene H, Weeber EJ, Nash KR. | 08/7/2021 |
| The identification of two pathogenic variants in a family with mild and severe forms of developmental delay. | The identification of two pathogenic variants in a family with mild and severe forms of developmental delay.
Miyake N, Heydari S, Garshasbi M, Saitoh S, Nasiri J, Hamanaka K, Takata A, Matsumoto N, Beheshti FH, Chaleshtori ARS. | 08/7/2021 |