| Mutations of Rad6 E2 ubiquitin-conjugating enzymes at alanine-126 in helix-3 affect ubiquitination activity and decrease enzyme stability. | Mutations of Rad6 E2 ubiquitin-conjugating enzymes at alanine-126 in helix-3 affect ubiquitination activity and decrease enzyme stability.
Shukla PK, Sinha D, Leng AM, Bissell JE, Thatipamula S, Ganguly R, Radmall KS, Skalicky JJ, Shrieve DC, Chandrasekharan MB., Free PMC Article | 12/3/2022 |
| Redox-sensitive E2 Rad6 controls cellular response to oxidative stress via K63-linked ubiquitination of ribosomes. | Redox-sensitive E2 Rad6 controls cellular response to oxidative stress via K63-linked ubiquitination of ribosomes.
Simões V, Cizubu BK, Harley L, Zhou Y, Pajak J, Snyder NA, Bouvette J, Borgnia MJ, Arya G, Bartesaghi A, Silva GM., Free PMC Article | 06/11/2022 |
| A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family. | A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.
Arslan Satılmış SB, Kurt EE, Akçay EP, Sazci A, Ceylan AC. | 01/15/2022 |
| The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes. | The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes.
Wolańska E, Pollak A, Rydzanicz M, Pesz K, Kłaniewska M, Rozensztrauch A, Skiba P, Stawiński P, Płoski R, Śmigiel R., Free PMC Article | 08/7/2021 |
| A novel UBE2A mutation in a Chinese family with X-linked intellectual disability. | A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.
Jia W, Hu Q, Wu Y, Wang J, Liu Z, Zhang X. | 08/7/2021 |
| Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. | Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Cordeddu V, Macke EL, Radio FC, Lo Cicero S, Pantaleoni F, Tatti M, Bellacchio E, Ciolfi A, Agolini E, Bruselles A, Brunetti-Pierri N, Suri M, Josephs KS, McEntagart M, Lanpher B, Nickels KC, Haworth A, Reed L, Cappuccio G, Mammi I, Tarnowski JM, Novelli A, Deciphering Developmental Disorders Study, Melis D, Callewaert B, Dallapiccola B, Klee E, Tartaglia M. | 07/10/2021 |
| Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss. | Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.
Tolmacheva EN, Kashevarova AA, Nazarenko LP, Minaycheva LI, Skryabin NA, Lopatkina ME, Nikitina TV, Sazhenova EA, Belyaeva EO, Fonova EA, Salyukova OA, Tarabykin VS, Lebedev IN. | 09/19/2020 |
| UBE2A mutations that are recurrently acquired during chronic myeloid leukemia progression interfere with myeloid differentiation pathways | De novo UBE2A mutations are recurrently acquired during chronic myeloid leukemia progression and interfere with myeloid differentiation pathways.
Magistroni V, Mauri M, D'Aliberti D, Mezzatesta C, Crespiatico I, Nava M, Fontana D, Sharma N, Parker W, Schreiber A, Yeung D, Pirola A, Readelli S, Massimino L, Wang P, Khandelwal P, Citterio S, Viltadi M, Bombelli S, Rigolio R, Perego R, Boultwood J, Morotti A, Saglio G, Kim DW, Branford S, Gambacorti-Passerini C, Piazza R., Free PMC Article | 08/1/2020 |
| These variants constitute the majority of the RAD6B transcriptome in contrast to RAD6A, which was predominantly wild-type. The expression of functional RAD6B variants only in melanomas reveals RAD6B's molecular heterogeneity and its association with melanoma pathogenesis. | Alternative Splicing of RAD6B and Not RAD6A is Selectively Increased in Melanoma: Identification and Functional Characterization.
Gajan A, Martin CE, Kim S, Joshi M, Michelhaugh SK, Sloma I, Mittal S, Firestine S, Shekhar MPV., Free PMC Article | 07/11/2020 |
| UBE2A Q93E mutation, which was identified in two brothers with mild intellectual disability, perturbs the UBE2A catalytic microenvironment essential for lysine deprotonation during ubiquitin transfer, thus generating an enzyme that is disabled but not dead. | Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.
de Oliveira JF, do Prado PFV, da Costa SS, Sforça ML, Canateli C, Ranzani AT, Maschietto M, de Oliveira PSL, Otto PA, Klevit RE, Krepischi ACV, Rosenberg C, Franchini KG., Free PMC Article | 05/11/2019 |
| As confirmed by deep sequencing, the c.330G>A substitution in UBE2A was undetectable in genomic DNA from maternal blood cells, suggesting that the recurrent UBE2A deficiency observed in males of this family is caused by a maternal germline mosaicism. | UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.
Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Bernardo P, Nigro V, Piluso G. | 03/2/2019 |
| RAD6 is upregulated in response to chemotherapy and significantly correlated with expression of ovarian cancer (OC) stem cell signaling genes ALDH1A1 and SOX2 and poor prognosis of OC patients. | RAD6 promotes DNA repair and stem cell signaling in ovarian cancer and is a promising therapeutic target to prevent and treat acquired chemoresistance.
Somasagara RR, Spencer SM, Tripathi K, Clark DW, Mani C, Madeira da Silva L, Scalici J, Kothayer H, Westwell AD, Rocconi RP, Palle K., Free PMC Article | 12/9/2017 |
| RAD6 promotes proteasome activity and nuclear translocation by enhancing the degradation of PSMF1 and the lamin B receptor. | Interactome Analysis Reveals a Novel Role for RAD6 in the Regulation of Proteasome Activity and Localization in Response to DNA Damage.
An H, Yang L, Wang C, Gan Z, Gu H, Zhang T, Huang X, Liu Y, Li Y, Chang SJ, Lai J, Li YB, Chen S, Sun FL., Free PMC Article | 07/1/2017 |
| Data show that the ubiquitin-conjugating enzyme E2 RAD6A/B-MDM2 ubiquitin ligase machinery regulates anti-silencing function 1A protein (ASF1A) degradation. | A conserved RAD6-MDM2 ubiquitin ligase machinery targets histone chaperone ASF1A in tumorigenesis.
Wang C, Chang JF, Yan H, Wang DL, Liu Y, Jing Y, Zhang M, Men YL, Lu D, Yang XM, Chen S, Sun FL., Free PMC Article | 08/6/2016 |
| Results showed KCMF1 C-terminus binds directly to RAD6, whereas N-terminal domains interact with UBR4 and point mutations found in X-linked intellectual disability (XLID) patients specifically lose the interaction with KCMF1 and UBR4. | KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradation.
Hong JH, Kaustov L, Coyaud E, Srikumar T, Wan J, Arrowsmith C, Raught B., Free PMC Article | 12/5/2015 |
| This study investigates clinical and molecular data of two unrelated, affected males with chromosome Xq24 deletions encompassing UBE2A. | UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
Thunstrom S, Sodermark L, Ivarsson L, Samuelsson L, Stefanova M. | 08/22/2015 |
| RAD6 physically interacts with heterochromatin protein 1alpha and ubiquitinates HP1alpha at residue K154, thereby promoting heterochromatin protein 1alpha degradation through the autophagy pathway | RAD6 promotes homologous recombination repair by activating the autophagy-mediated degradation of heterochromatin protein HP1.
Chen S, Wang C, Sun L, Wang DL, Chen L, Huang Z, Yang Q, Gao J, Yang XB, Chang JF, Chen P, Lan L, Mao Z, Sun FL., Free PMC Article | 03/21/2015 |
| HHR6 and hRad18 can monoubiquitinate FANCD2 at lysine 561 in vitro. This activity may represent a novel stress response pathway. | In vitro FANCD2 monoubiquitination by HHR6 and hRad18.
Pickering A, Panneerselvam J, Zhang J, Zheng J, Zhang Y, Fei P., Free PMC Article | 06/7/2014 |
| RNF168, in complex with RAD6A or RAD6B, is activated in the DNA-damage-induced protein ubiquitination cascade. | RNF168 forms a functional complex with RAD6 during the DNA damage response.
Liu C, Wang D, Wu J, Keller J, Ma T, Yu X., Free PMC Article | 11/2/2013 |
| RAD6A is a regulator of Parkin-dependent mitophagy plays a critical role in maintaining neuronal function. | Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
Haddad DM, Vilain S, Vos M, Esposito G, Matta S, Kalscheuer VM, Craessaerts K, Leyssen M, Nascimento RM, Vianna-Morgante AM, De Strooper B, Van Esch H, Morais VA, Verstreken P. | 09/14/2013 |
| UBE2A specifically interacts with CDK9, but not CDK2 and is phosphorylated by CDK9 in vitro. | Phosphorylation by cyclin-dependent kinase-9 controls ubiquitin-conjugating enzyme-2A function.
Shchebet A, Karpiuk O, Kremmer E, Eick D, Johnsen SA. | 10/13/2012 |
| RAD6 can form a ternary complex with MDM2 and p53 that contributes to the degradation of p53. | RAD6 regulates the dosage of p53 by a combination of transcriptional and posttranscriptional mechanisms.
Chen S, Wang DL, Liu Y, Zhao L, Sun FL., Free PMC Article | 02/25/2012 |
| UBE2A deficiency syndrome is reported in two male patients. | UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
de Leeuw N, Bulk S, Green A, Jaeckle-Santos L, Baker LA, Zinn AR, Kleefstra T, van der Smagt JJ, Vianne Morgante AM, de Vries BB, van Bokhoven H, de Brouwer AP. | 03/19/2011 |
| showed that the function of FA signaling pathway is at least partly mediated through coupling with hRad6/hRad18 signaling (HHR6 pathway) | Convergence of Rad6/Rad18 and Fanconi anemia tumor suppressor pathways upon DNA damage.
Park HK, Wang H, Zhang J, Datta S, Fei P., Free PMC Article | 03/12/2011 |
| Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome | Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
Budny B, Badura-Stronka M, Materna-Kiryluk A, Tzschach A, Raynaud M, Latos-Bielenska A, Ropers HH. | 10/23/2010 |