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https://www.readbyqxmd.com/read/29281732/association-of-papillomavirus-e6-proteins-with-either-maml1-or-e6ap-clusters-e6-proteins-by-structure-function-and-evolutionary-relatedness
#1
Nicole Brimer, Camille M Drews, Scott B Vande Pol
Papillomavirus E6 proteins bind to LXXLL peptide motifs displayed on targeted cellular proteins. Alpha genus HPV E6 proteins associate with the cellular ubiquitin ligase E6AP (UBE3A), by binding to an LXXLL peptide (ELTLQELLGEE) displayed by E6AP, thereby stimulating E6AP ubiquitin ligase activity. Beta, Gamma, and Delta genera E6 proteins bind a similar LXXLL peptide (WMSDLDDLLGS) on the cellular transcriptional co-activator MAML1 and thereby repress Notch signaling. We expressed 45 different animal and human E6 proteins from diverse papillomavirus genera to ascertain the overall preference of E6 proteins for E6AP or MAML1...
December 27, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/29250725/angelman-syndrome-due-to-ube3a-gene-mutation
#2
Jyotindra Narayan Goswami, Jitendra Kumar Sahu, Pratibha Singhi
A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a diagnostic challenge. Though his clinical profile and electroencephalogram were suggestive of Angelman syndrome, initial genetic tests were unyielding. Exome sequencing revealed a previously unreported mutation of Ubiquitin Protein Ligase E3A (UBE3A) gene, confirming the diagnosis of Angelman syndrome. The case is aimed to sensitize pediatricians about Angelman syndrome and to highlight the role of sequential investigations in establishing the diagnosis...
December 18, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29225531/mom-genes-a-role-for-loss-of-maternal-ube3a-in-gabaergic-neurons-in-angelman-syndrome
#3
COMMENT
Catherine A Christian
No abstract text is available yet for this article.
July 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/29217762/sirt6-is-a-target-of-regulation-by-ube3a-that-contributes-to-liver-tumorigenesis-in-an-anxa2-dependent-manner
#4
Saishruti Kohli, Abhishek Bhardwaj, Richa Kumari, Sanjeev Das
UBE3A is an E3 ubiquitin ligase well known for its role in the proteasomal degradation of p53 in human papillomavirus (HPV)-associated cancers. Here we report that UBE3A ubiquitylates and triggers degradation of the tumor suppressive sirtuin SIRT6 in hepatocellular carcinoma. UBE3A ubiquitylated the highly conserved Lys160 residue on SIRT6. FOXO1-mediated transcriptional repression of UBE3A was sufficient to stabilize SIRT6 and epigenetically repress ANXA2, a key mediator of UBE3A oncogenic function. Thus, UBE3A-mediated SIRT6 degradation promoted the proliferative capacity, migration potential and invasiveness of cells...
December 7, 2017: Cancer Research
https://www.readbyqxmd.com/read/29188609/-clinical-and-genetic-analysis-of-two-unrelated-patients-with-angelman-syndrome-and-novel-ube3a-mutations
#5
Huihui Xu, Xing Ji, Yan Xu, Xiaoqing Liu, Jingmin Zhang, Yingwei Chen, Bing Xiao
OBJECTIVE: To explore the genetic cause for two familial Angelman syndrome cases and correlation between the clinical phenotypes and their genetic basis. METHODS: Karyotyping analysis and microarray assay were carried out to exclude chromosome anomalies and uniparental disomy. The UBE3A gene was analyzed for potential point mutations, deletions, insertions and splice site mutations. Reverse transcription PCR was used to evaluate splicing mutation of the RNA transcripts...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29175955/the-autism-protein-ube3a-e6ap-remodels-neuronal-dendritic-arborization-via-caspase-dependent-microtubule-destabilization
#6
Natasha Khatri, James P Gilbert, Yuda Huo, Roozhin Sharaflari, Michael Nee, Hui Qiao, Heng-Ye Man
UBE3A gene copy number variation and the resulting overexpression of the protein E6AP is directly linked to autism spectrum disorders (ASDs), however the underlying cellular and molecular neurobiology remains less clear. Here we report the role of ASD-related increased dosage of Ube3A/E6AP in dendritic arborization during brain development. We show that increased E6AP expression in primary cultured neurons leads to a reduction in dendritic branch number and length. The E6AP-dependent remodeling of dendritic arborization results from retraction of dendrites by thinning and fragmentation at the tips of dendrite branches, leading to shortening or removal of dendrites...
November 23, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29162042/novel-intragenic-deletions-within-the-ube3a-gene-in-two-unrelated-patients-with-angelman-syndrome-case-report-and-review-of-the-literature
#7
Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart
BACKGROUND: Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which is located in the 15q11.2-q13 imprinted region. Functional loss of UBE3A is due to 15q11.2-q13 deletion, mutations in the UBE3A gene, paternal uniparental disomy and genomic imprinting defects. CASE PRESENTATION: We report here two patients with clinical features of AS referred to our hospital for clinical follow-up and genetic diagnosis...
November 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29097328/lovastatin-suppresses-hyperexcitability-and-seizure-in-angelman-syndrome-model
#8
Leeyup Chung, Alexandra L Bey, Aaron J Towers, Xinyu Cao, Il Hwan Kim, Yong-Hui Jiang
Epilepsy is prevalent and often medically intractable in Angelman syndrome (AS). AS mouse model (Ube3a(m-/p+)) shows reduced excitatory neurotransmission but lower seizure threshold. The neural mechanism linking the synaptic dysfunction to the seizure remains elusive. We show that the local circuits of Ube3a(m-/p+)in vitro are hyperexcitable and display a unique epileptiform activity, a phenomenon that is reminiscent of the finding in fragile X syndrome (FXS) mouse model. Similar to the FXS model, lovastatin suppressed the epileptiform activity and audiogenic seizures in Ube3a(m-/p+)...
October 31, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/29076503/excessive-ube3a-dosage-impairs-retinoic-acid-signaling-and-synaptic-plasticity-in-autism-spectrum-disorders
#9
Xingxing Xu, Chuanyin Li, Xiaobo Gao, Kun Xia, Hui Guo, Yali Li, Zijian Hao, Lei Zhang, Daming Gao, Chenfan Xu, Huatai Xu, Zhi-Qi Xiong, Zilong Qiu, Ling Mei, Xiaoduo Xie, Kangcheng Ruan, Ronggui Hu
The autism spectrum disorders (ASDs) are a collection of human neurological disorders with heterogeneous etiologies. Hyperactivity of E3 ubiquitin (Ub) ligase UBE3A, stemming from 15q11-q13 copy number variations, accounts for 1%-3% of ASD cases worldwide, but the underlying mechanisms remain incompletely characterized. Here we report that the functionality of ALDH1A2, the rate-limiting enzyme of retinoic acid (RA) synthesis, is negatively regulated by UBE3A in a ubiquitylation-dependent manner. Excessive UBE3A dosage was found to impair RA-mediated neuronal homeostatic synaptic plasticity...
January 2018: Cell Research
https://www.readbyqxmd.com/read/29054411/e6ap-ube3a-catalyzes-encephalomyocarditis-virus-3c-protease-polyubiquitylation-and-promotes-its-concentration-reduction-in-virus-infected-cells
#10
Marybeth Carmody, Tara P Notarianni, Larissa A Sambel, Shannon J Walsh, Jenna M Burke, Jenna L Armstrong, T Glen Lawson
The encephalomyocarditis virus (EMCV) 3C protease (3C(pro)) is one of a small number of viral proteins whose concentration is known to be regulated by the cellular ubiquitin-proteasome system. Here we report that the ubiquitin-conjugating enzyme UbcH7/UBE2L3 and the ubiquitin-protein ligase E6AP/UBE3A are components of a previously unknown EMCV 3C(pro)-polyubiquitylating pathway. Following the identification of UbcH7/UBE2L3 as a participant in 3C(pro) ubiquitylation, we purified a UbcH7-dependent 3C(pro)-ubiquitylating activity from mouse cells, which we identified as E6AP...
December 9, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29016862/ube3a-deficiency-inhibits-amyloid-plaque-formation-in-appswe-ps1%C3%AE-e9-mouse-model-of-alzheimer-s-disease
#11
Brijesh Kumar Singh, Naman Vatsa, Vipendra Kumar, Shashi Shekhar, Ankit Sharma, Nihar Ranjan Jana
Alzheimer's disease (AD) is a neurodegenerative disorder characterized by progressive decline in memory and cognitive function. Pathological hallmark of AD includes aberrant aggregation of amyloid beta (Aβ) peptide, which is produced upon sequential cleavage of amyloid precursor protein (APP) by β- and γ -secretases. On the contrary, α-secretase cleaves APP within the Aβ sequence and thereby prevents Aβ generation. Here, we investigated the role of ubiquitin ligase Ube3a (involved in synaptic function and plasticity) in the pathogenesis of AD using APPswe/PS1δE9 transgenic mouse model and first noticed that soluble pool of Ube3a was age-dependently decreased in AD mouse in comparison with wild type controls...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29016856/neuronal-overexpression-of-ube3a-isoform-2-causes-behavioral-impairments-and-neuroanatomical-pathology-relevant-to-15q11-2-q13-3-duplication-syndrome
#12
Nycole A Copping, Sarah G B Christian, Dylan J Ritter, M Saharul Islam, Nathalie Buscher, Dorota Zolkowska, Michael C Pride, Elizabeth L Berg, Janine M LaSalle, Jacob Ellegood, Jason P Lerch, Lawrence T Reiter, Jill L Silverman, Scott V Dindot
Maternally derived copy number gains of human chromosome 15q11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic features. Dup15q syndrome is one of the most common and penetrant chromosomal abnormalities observed in individuals with autism spectrum disorder (ASD). Although ∼40 genes are located in the 15q11.2-q13.3 region, overexpression of the ubiquitin-protein E3A ligase (UBE3A) gene is thought to be the predominant molecular cause of the phenotypes observed in Dup15q syndrome...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28957379/involvement-of-parkin-in-the-ubiquitin-proteasome-system-mediated-degradation-of-n-type-voltage-gated-ca2-channels
#13
Lizbeth Grimaldo, Alejandro Sandoval, Edgar Garza-López, Ricardo Felix
N-type calcium (CaV2.2) channels are widely expressed in the brain and the peripheral nervous system, where they play important roles in the regulation of transmitter release. Although CaV2.2 channel expression levels are precisely regulated, presently little is known regarding the molecules that mediate its synthesis and degradation. Previously, by using a combination of biochemical and functional analyses, we showed that the complex formed by the light chain 1 of the microtubule-associated protein 1B (LC1-MAP1B) and the ubiquitin-proteasome system (UPS) E2 enzyme UBE2L3, may interact with the CaV2...
2017: PloS One
https://www.readbyqxmd.com/read/28931574/enhanced-nociception-in-angelman-syndrome-model-mice
#14
Eric S McCoy, Bonnie Taylor-Blake, Megumi Aita, Jeremy M Simon, Benjamin D Philpot, Mark J Zylka
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutation or deletion of the maternal UBE3A allele. The maternal UBE3A allele is expressed in nearly all neurons of the brain and spinal cord, whereas the paternal UBE3A allele is repressed by an extremely long antisense transcript (UBE3A-ATS). Little is known about expression of UBE3A in the peripheral nervous system, where loss of maternal UBE3A might contribute to AS phenotypes. Here we sought to examine maternal and paternal Ube3a expression in DRGs neurons and to evaluate whether nociceptive responses were affected in AS model mice (global deletion of maternal Ube3a allele; Ube3a(m-/p+))...
October 18, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28925810/ube3a-mediated-regulation-of-imprinted-genes-and-epigenome-wide-marks-in-human-neurons
#15
S Jesse Lopez, Keith Dunaway, M Saharul Islam, Charles Mordaunt, Annie Vogel Ciernia, Makiko Meguro-Horike, Shin-Ichi Horike, David J Segal, Janine M LaSalle
The dysregulation of genes in neurodevelopmental disorders that lead to social and cognitive phenotypes is a complex, multilayered process involving both genetics and epigenetics. Parent-of-origin effects of deletion and duplication of the 15q11-q13 locus leading to Angelman, Prader-Willi, and Dup15q syndromes are due to imprinted genes, including UBE3A, which is maternally expressed exclusively in neurons. UBE3A encodes a ubiquitin E3 ligase protein with multiple downstream targets, including RING1B, which in turn monoubiquitinates histone variant H2A...
2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28924046/in-silico-modeling-of-the-cryptic-e2%C3%A2-ubiquitin-binding-site-of-e6-associated-protein-e6ap-ube3a-reveals-the-mechanism-of-polyubiquitin-chain-assembly
#16
Virginia P Ronchi, Elizabeth D Kim, Christopher M Summa, Jennifer M Klein, Arthur L Haas
To understand the mechanism for assembly of Lys(48)-linked polyubiquitin degradation signals, we previously demonstrated that the E6AP/UBE3A ligase harbors two functionally distinct E2∼ubiquitin-binding sites: a high-affinity Site 1 required for E6AP Cys(820)∼ubiquitin thioester formation and a canonical Site 2 responsible for subsequent chain elongation. Ordered binding to Sites 1 and 2 is here revealed by observation of UbcH7∼ubiquitin-dependent substrate inhibition of chain formation at micromolar concentrations...
November 3, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28898887/angelman-syndrome-due-to-a-maternally-inherited-intragenic-deletion-encompassing-exons-7-and-8-of-the-ube3a-gene
#17
Athina Ververi, Lily Islam, Beverley Bewes, Louise Busby, Caroline Sullivan, Natalie Canham
Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial deletion of the imprinted region 15q11.2q13, which is usually de novo. The rest are associated with point mutations in the UBE3A gene, imprinting defects, and paternal uniparental disomy. Small intragenic UBE3A deletions have rarely been described. They are usually maternally inherited, increasing the recurrence risk to 50%, and may be missed by conventional testing (methylation studies and UBE3A gene sequencing)...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28890050/modulation-of-hippocampal-synapse-maturation-by-activity-regulated-e3-ligase-via-non-canonical-pathway
#18
Pushpa Kumari, Balakumar Srinivasan, Sourav Banerjee
Development of functional synapses is crucial for the transmission and storage of information in the brain. Post establishment of the initial synaptic contact, synapses are stabilized through neuronal activity-induced signals. Emerging studies have implicated ubiquitination; a reversible posttranslational modification, as a key regulatory switch that modulates synapse development through proteasomal degradation. Ubiquitination of proteins is precisely regulated by E3 ligases, a set of enzymes that bind to specific substrates to facilitate the conjugation of monomeric or polymeric ubiquitin...
November 19, 2017: Neuroscience
https://www.readbyqxmd.com/read/28888970/glial-overexpression-of-dube3a-causes-seizures-and-synaptic-impairments-in-drosophila-concomitant-with-down-regulation-of-the-na-k-pump-atp%C3%AE
#19
Kevin A Hope, Mark S LeDoux, Lawrence T Reiter
Duplication 15q syndrome (Dup15q) is an autism-associated disorder co-incident with high rates of pediatric epilepsy. Additional copies of the E3 ubiquitin ligase UBE3A are thought to cause Dup15q phenotypes, yet models overexpressing UBE3A in neurons have not recapitulated the epilepsy phenotype. We show that Drosophila endogenously expresses Dube3a (fly UBE3A homolog) in glial cells and neurons, prompting an investigation into the consequences of glial Dube3a overexpression. Here we expand on previous work showing that the Na(+)/K(+) pump ATPα is a direct ubiquitin ligase substrate of Dube3a...
December 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28835500/human-papillomavirus-16-hpv-16-hpv-18-and-hpv-31-e6-override-the-normal-phosphoregulation-of-e6ap-enzymatic-activity
#20
Jayashree Thatte, Lawrence Banks
The human papillomavirus (HPV) E6 oncoproteins recruit the cellular ubiquitin ligase E6AP/UBE3A to target cellular substrates for proteasome-mediated degradation, and one consequence of this activity is the E6 stimulation of E6AP autoubiquitination and degradation. Recent studies identified an autism-linked mutation within E6AP at T485, which was identified as a protein kinase A phosphoacceptor site and which could directly regulate E6AP ubiquitin ligase activity. In this study, we have analyzed how T485-mediated regulation of E6AP might affect E6 targeting of some of its known substrates...
November 15, 2017: Journal of Virology
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