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https://www.readbyqxmd.com/read/27870901/ubiquitin-dependent-modification-of-skeletal-muscle-by-the-parasitic-nematode-trichinella-spiralis
#1
Rhiannon R White, Amy H Ponsford, Michael P Weekes, Rachel B Rodrigues, David B Ascher, Marco Mol, Murray E Selkirk, Steven P Gygi, Christopher M Sanderson, Katerina Artavanis-Tsakonas
Trichinella spiralis is a muscle-specific parasitic worm that is uniquely intracellular. T. spiralis reprograms terminally differentiated skeletal muscle cells causing them to de-differentiate and re-enter the cell cycle, a process that cannot occur naturally in mammalian skeletal muscle cells, but one that holds great therapeutic potential. Although the host ubiquitin pathway is a common target for viruses and bacteria during infection, its role in parasite pathogenesis has been largely overlooked. Here we demonstrate that the secreted proteins of T...
November 2016: PLoS Pathogens
https://www.readbyqxmd.com/read/27729585/mechanism-and-disease-association-of-e2-conjugating-enzymes-lessons-from-ube2t-and-ube2l3
#2
Arno F Alpi, Viduth Chaugule, Helen Walden
Ubiquitin signalling is a fundamental eukaryotic regulatory system, controlling diverse cellular functions. A cascade of E1, E2, and E3 enzymes is required for assembly of distinct signals, whereas an array of deubiquitinases and ubiquitin-binding modules edit, remove, and translate the signals. In the centre of this cascade sits the E2-conjugating enzyme, relaying activated ubiquitin from the E1 activating enzyme to the substrate, usually via an E3 ubiquitin ligase. Many disease states are associated with dysfunction of ubiquitin signalling, with the E3s being a particular focus...
October 15, 2016: Biochemical Journal
https://www.readbyqxmd.com/read/27466937/new-developments-in-genetics-of-myositis
#3
Simon Rothwell, Janine A Lamb, Hector Chinoy
PURPOSE OF REVIEW: This article reviews the advances that have been made in our understanding of the genetics of the idiopathic inflammatory myopathies (IIM) in the past 2 years, with a particular focus on polymyositis, dermatomyositis and inclusion body myositis. RECENT FINDINGS: Two large human leukocyte antigen (HLA) imputation studies have confirmed a strong association with the 8.1 ancestral haplotype in clinical subgroups of myositis and suggest multiple independent associations on this haplotype...
November 2016: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27212637/genetic-variant-in-cxcl13-gene-is-associated-with-susceptibility-to-intrauterine-infection-of-hepatitis-b-virus
#4
Zhihua Wan, Xiaofang Lin, Tongyang Li, Aifen Zhou, Mei Yang, Dan Hu, Li Feng, Songxu Peng, Linlin Fan, Si Tu, Bin Zhang, Yukai Du
Intrauterine infection of hepatitis B virus (HBV), which accounts for the majority of mother-to-child transmission, is one of the main reasons for the failure of combined immunoprophylaxis against the transmission. Recent studies have identified that genetic background might influence the susceptibility to intrauterine infection of HBV. We conducted this study to investigate the associations between 10 genetic variants in 9 genes (SLC10A1, HLA-DP, HLA-C, CXCR5, CXCL13, TLR3, TLR4, TLR9 and UBE2L3) of mothers and their neonates and HBV intrauterine infection...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27094594/the-haplotype-of-ube2l3-gene-is-associated-with-hashimoto-s-thyroiditis-in-a-chinese-han-population
#5
Yu Wang, Yuan-feng Zhu, Qiong Wang, Jing Xu, Ni Yan, Jian Xu, Liang-feng Shi, Shuang-tao He, Jin-an Zhang
BACKGROUND: The ubiquitin conjugating enzyme E2L3 (UBE2L3) gene is associated with susceptibility to many autoimmune diseases. The aim of this study was to investigate the association between UBE2L3 gene and autoimmune thyroid diseases (AITDs) and their clinical phenotypes. METHODS: We genotyped five single-nucleotide polymorphisms (SNPs) rs131654, rs5754217, rs2298428, rs140489 and rs5998672 of UBE2L3 gene in case groups including 1028 patients with AITDs [676 cases of Graves' disease (GD) and 352 cases of Hashimoto's thyroiditis (HT)] and control group including 897 healthy individuals...
April 19, 2016: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/27057306/host-nucleotide-polymorphism-in-hepatitis-b-virus-associated-hepatocellular-carcinoma
#6
REVIEW
Shilu Mathew, Hany Abdel-Hafiz, Abbas Raza, Kaneez Fatima, Ishtiaq Qadri
Hepatocellular carcinoma (HCC) is etiologically linked with hepatitis B virus (HBV) and is the leading cause of death amongst 80% of HBV patients. Among HBV affected patients, genetic factors are also involved in modifying the risk factors of HCC. However, the genetic factors that regulate progression to HCC still remain to be determined. In this review, we discuss several single nucleotide polymorphisms (SNPs) which were reportedly associated with increased or reduced risk of HCC occurrence in patients with chronic HBV infection such as cyclooxygenase (COX)-2 expression specifically at COX-2 -1195G/A in Chinese, Turkish and Egyptian populations, tumor necrosis factor α and the three most commonly studied SNPs: PAT-/+, Lys939Gln (A33512C, rs2228001) and Ala499Val (C21151T, rs2228000)...
April 8, 2016: World Journal of Hepatology
https://www.readbyqxmd.com/read/27021335/genetic-association-study-of-systemic-lupus-erythematosus-and-disease-subphenotypes-in-european-populations
#7
Otsanda Ruiz-Larrañaga, Paola Migliorini, Maria Uribarri, László Czirják, Maria C Alcaro, Jokin Del Amo, Mikel Iriondo, Carmen Manzano, Sergio Escorza-Treviño, Andone Estonba
Epidemiological studies suggest a strong contribution of genetic factors in the pathogenesis of systemic lupus erythematosus (SLE). In the last decades, many risk loci have been identified in several genetic association studies following both candidate gene and genome-wide approaches. The present work was conducted by GAPAID (Genes And Proteins for AutoImmunity Diagnostics) consortium with a dual aim: to replicate the association of several previously reported SLE susceptibility loci in an independent European sample and to explore their relation with some disease subphenotypes...
May 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/26859134/different-gene-expression-signatures-in-children-and-adults-with-celiac-disease
#8
V Pascual, L M Medrano, N López-Palacios, A Bodas, B Dema, M Fernández-Arquero, B González-Pérez, I Salazar, C Núñez
Celiac disease (CD) is developed after gluten ingestion in genetically susceptible individuals. It can appear at any time in life, but some differences are commonly observed between individuals with onset early in life or in adulthood. We aimed to investigate the molecular basis underlying those differences. We collected 19 duodenal biopsies of children and adults with CD and compared the expression of 38 selected genes between each other and with the observed in 13 non-CD controls matched by age. A Bayesian methodology was used to analyze the differences of gene expression between groups...
2016: PloS One
https://www.readbyqxmd.com/read/26616590/the-level-of-autoantibodies-targeting-eukaryote-translation-elongation-factor-1-%C3%AE-1-and-ubiquitin-conjugating-enzyme-2l3-in-nondiabetic-young-adults
#9
Eunhee G Kim, Soo Heon Kwak, Daehee Hwang, Eugene C Yi, Kyong Soo Park, Bo Kyung Koo, Kristine M Kim
BACKGROUND: The prevalence of novel type 1 diabetes mellitus (T1DM) antibodies targeting eukaryote translation elongation factor 1 alpha 1 autoantibody (EEF1A1-AAb) and ubiquitin-conjugating enzyme 2L3 autoantibody (UBE2L3-AAb) has been shown to be negatively correlated with age in T1DM subjects. Therefore, we aimed to investigate whether age affects the levels of these two antibodies in nondiabetic subjects. METHODS: EEF1A1-AAb and UBE2L3-AAb levels in nondiabetic control subjects (n=150) and T1DM subjects (n=101) in various ranges of age (18 to 69 years) were measured using an enzyme-linked immunosorbent assay...
April 2016: Diabetes & Metabolism Journal
https://www.readbyqxmd.com/read/26558463/methylmercury-can-induce-parkinson-s-like-neurotoxicity-similar-to-1-methyl-4-phenylpyridinium-a-genomic-and-proteomic-analysis-on-mn9d-dopaminergic-neuron-cells
#10
Yueting Shao, Daniel Figeys, Zhibin Ning, Ryan Mailloux, Hing Man Chan
Exposure to environmental chemicals has been implicated as a possible risk factor for the development of neurodegenerative diseases. Our previous study showed that methylmercury (MeHg) exposure can disrupt synthesis, uptake and metabolism of dopamine similar to 1-methyl-4-phenylpyridinium (MPP(+)). The objective of this study was to investigate the effects of MeHg exposure on gene and protein profiles in a dopaminergic MN9D cell line. MN9D cells were treated with MeHg (1-5 μM) and MPP(+) (10-40 μM) for 48 hr...
December 2015: Journal of Toxicological Sciences
https://www.readbyqxmd.com/read/26362759/dense-genotyping-of-immune-related-loci-in-idiopathic-inflammatory-myopathies-confirms-hla-alleles-as-the-strongest-genetic-risk-factor-and-suggests-different-genetic-background-for-major-clinical-subgroups
#11
Simon Rothwell, Robert G Cooper, Ingrid E Lundberg, Frederick W Miller, Peter K Gregersen, John Bowes, Jiri Vencovsky, Katalin Danko, Vidya Limaye, Albert Selva-O'Callaghan, Michael G Hanna, Pedro M Machado, Lauren M Pachman, Ann M Reed, Lisa G Rider, Joanna Cobb, Hazel Platt, Øyvind Molberg, Olivier Benveniste, Pernille Mathiesen, Timothy Radstake, Andrea Doria, Jan De Bleecker, Boel De Paepe, Britta Maurer, William E Ollier, Leonid Padyukov, Terrance P O'Hanlon, Annette Lee, Christopher I Amos, Christian Gieger, Thomas Meitinger, Juliane Winkelmann, Lucy R Wedderburn, Hector Chinoy, Janine A Lamb
OBJECTIVES: The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and extramuscular manifestations such as skin rashes and interstitial lung disease. We genotyped 2566 IIM cases of Caucasian descent using the Immunochip; a custom array covering 186 established autoimmune susceptibility loci. The cohort was predominantly comprised of patients with dermatomyositis (DM, n=879), juvenile DM (JDM, n=481), polymyositis (PM, n=931) and inclusion body myositis (n=252) collected from 14 countries through the Myositis Genetics Consortium...
August 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/26312912/effect-of-ube2l3-genotype-on-regulation-of-the-linear-ubiquitin-chain-assembly-complex-in-systemic-lupus-erythematosus
#12
Myles Lewis, Simon Vyse, Adrian Shields, Sebastian Boeltz, Patrick Gordon, Timothy Spector, Paul Lehner, Henning Walczak, Timothy Vyse
BACKGROUND: A single risk haplotype across UBE2L3 is strongly associated with systemic lupus erythematosus (SLE) and many other autoimmune diseases. UBE2L3 is an E2 ubiquitin-conjugating enzyme with specificity for RING-in-between-RING E3 ligases, including HOIL-1 and HOIP, components of the linear ubiquitin chain assembly complex (LUBAC), which has a pivotal role in inflammation, through crucial regulation of NF-κB. We aimed to determine whether UBE2L3 regulates LUBAC-mediated activation of NF-κB, and determine the effect of UBE2L3 genotype on NF-κB activation and B-cell differentiation...
February 26, 2015: Lancet
https://www.readbyqxmd.com/read/26255971/host-genetic-variants-influencing-the-clinical-course-of-hepatitis-b-virus-infection
#13
REVIEW
Kentaro Matsuura, Masanori Isogawa, Yasuhito Tanaka
The clinical course of hepatitis B virus (HBV) infection greatly differs in individuals. Various viral, host, and environmental factors influence the natural history of HBV infection. Recent genome-wide association studies identified several host genetic factors influencing the clinical course of HBV infection. Genetic variations in HLA class II loci were significantly associated with susceptibility to persistent HBV infection. Other polymorphisms in or near the genes EHMT2, TCF19, and HLA-C, located near HLA class II loci, and UBE2L3 were also associated with persistent HBV infection...
March 2016: Journal of Medical Virology
https://www.readbyqxmd.com/read/26206335/polymorphisms-in-genes-involved-in-egfr-turnover-are-predictive-for-cetuximab-efficacy-in-colorectal-cancer
#14
Sebastian Stintzing, Wu Zhang, Volker Heinemann, Daniel Neureiter, Ralf Kemmerling, Thomas Kirchner, Andreas Jung, Matthias Folwaczny, Dongyun Yang, Yan Ning, Ana Sebio, Stefan Stremitzer, Yu Sunakawa, Satoshi Matsusaka, Shinichi Yamauchi, Fotios Loupakis, Chiara Cremolini, Alfredo Falcone, Heinz-Josef Lenz
Transmembrane receptors, such as the EGFR, are regulated by their turnover, which is dependent on the ubiquitin-proteasome system. We tested in two independent study cohorts whether SNPs in genes involved in EGFR turnover predict clinical outcome in cetuximab-treated metastatic colorectal cancer (mCRC) patients. The following SNPs involved in EGFR degradation were analyzed in a screening cohort of 108 patients treated with cetuximab in the chemorefractory setting: c-CBL (rs7105971; rs4938637; rs4938638; rs251837), EPS15 (rs17567; rs7308; rs1065754), NAE1 (rs363169; rs363170; rs363172), SH3KBP1 (rs7051590; rs5955820; rs1017874; rs11795873), SGIP1 (rs604737; rs6570808; rs7526812), UBE2M (rs895364; rs895374), and UBE2L3 (rs5754216)...
October 2015: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/25880549/meta-analysis-of-two-chinese-populations-identifies-an-autoimmune-disease-risk-allele-in-22q11-21-as-associated-with-systemic-lupus-erythematosus
#15
Yan Zhang, Yong-Fei Wang, Jing Yang, Jing Zhang, Liangdan Sun, Nattiya Hirankarn, Hai-Feng Pan, Chak Sing Lau, Tak Mao Chan, Tsz Leung Lee, Alexander Moon Ho Leung, Chi Chiu Mok, Lu Zhang, Jiangshan Jane Shen, Sik Nin Wong, Ka Wing Lee, Marco Hok Kung Ho, Pamela Pui Wah Lee, Brian Hon-Yin Chung, Chun Yin Chong, Raymond Woon Sing Wong, Mo Yin Mok, Wilfred Hing Sang Wong, Kwok Lung Tong, Niko Kei Chiu Tse, Xiang-Pei Li, Yingyos Avihingsanon, Pornpimol Rianthavorn, Thavatchai Deekajorndej, Kanya Suphapeetiporn, Vorasuk Shotelersuk, Shirley King Yee Ying, Samuel Ka Shun Fung, Wai Ming Lai, Chun-Ming Wong, Irene Oi Lin Ng, Maria-Merce Garcia-Barcelo, Stacey S Cherny, Paul Kwong-Hang Tam, Pak Chung Sham, Sen Yang, Dong Qing Ye, Yong Cui, Xue-Jun Zhang, Wanling Yang, Yu Lung Lau
INTRODUCTION: Systemic lupus erythematosus (SLE) is a heterogeneous disease with a diverse spectrum of clinical symptoms, ranging from skin rash to end-organ damage. 22q11.21 has been identified as a susceptibility region for several autoimmune diseases, including SLE. However, detailed information for SLE association and the underlying functional mechanism(s) is still lacking. METHODS: Through meta-analysis of two genome-wide association studies (GWAS) on Han Chinese populations, comprising a total of 1,659 cases and 3,398 controls matched geographically, we closely examined the 22q11...
2015: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/25540605/independent-confirmation-of-juvenile-idiopathic-arthritis-genetic-risk-loci-previously-identified-by-immunochip-array-analysis
#16
Rachel C Chiaroni-Clarke, Jane E Munro, Raul A Chavez, Angela Pezic, Roger C Allen, Jonathan D Akikusa, Susan E Piper, Richard Saffery, Anne-Louise Ponsonby, Justine A Ellis
BACKGROUND: Our understanding of the genetic factors underlying juvenile idiopathic arthritis (JIA) is growing, but remains incomplete. Recently, a number of novel genetic loci were reported to be associated with JIA at (or near) genome-wide significance in a large case-control discovery sample using the Immunochip genotyping array. However, independent replication of findings has yet to be performed. We therefore attempted to replicate these newly identified loci in the Australian CLARITY JIA case-control sample...
2014: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/25483588/the-map1b-lc1-ube2l3-complex-catalyzes-degradation-of-cell-surface-cav2-2-channels
#17
María A Gandini, Alejandro Sandoval, Gerald W Zamponi, Ricardo Felix
We reported recently a new mechanism by which the neuronal N-type Ca(2+) (CaV2.2) channel expression may be regulated by ubiquitination. This mechanism involves the interaction between the channel and the light chain (LC1) of the microtubule associated protein B (MAP1B). We also showed that MAP1B-LC1 could interact with the ubiquitin-conjugating E2 enzyme UBE2L3 and that the ubiquitination/degradation mechanism triggered by MAP1B-LC1 could be prevented by inhibiting the ubiquitin-proteasome proteolytic pathway...
2014: Channels
https://www.readbyqxmd.com/read/25422456/ubch7-regulates-53bp1-stability-and-dsb-repair
#18
Xiangzi Han, Lei Zhang, Jinsil Chung, Franklin Mayca Pozo, Amanda Tran, Darcie D Seachrist, James W Jacobberger, Ruth A Keri, Hannah Gilmore, Youwei Zhang
DNA double-strand break (DSB) repair is not only key to genome stability but is also an important anticancer target. Through an shRNA library-based screening, we identified ubiquitin-conjugating enzyme H7 (UbcH7, also known as Ube2L3), a ubiquitin E2 enzyme, as a critical player in DSB repair. UbcH7 regulates both the steady-state and replicative stress-induced ubiquitination and proteasome-dependent degradation of the tumor suppressor p53-binding protein 1 (53BP1). Phosphorylation of 53BP1 at the N terminus is involved in the replicative stress-induced 53BP1 degradation...
December 9, 2014: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/25224329/mulan-e3-ubiquitin-ligase-interacts-with-multiple-e2-conjugating-enzymes-and-participates-in-mitophagy-by-recruiting-gabarap
#19
Camilla T Ambivero, Lucia Cilenti, Stacey Main, Antonis S Zervos
Mulan is an E3 ubiquitin ligase embedded in the outer mitochondrial membrane (OMM) with its RING finger facing the cytoplasm and a large domain located in the intermembrane space (IMS). Mulan is known to have an important role in cell growth, cell death, and more recently in mitophagy. The mechanism of its function is poorly understood; but as an E3 ligase it is expected to interact with specific E2 ubiquitin conjugating enzymes and these complexes will bind and ubiquitinate specific substrates. The unique topology of Mulan can provide a direct link of communicating mitochondrial signals to the cytoplasm...
December 2014: Cellular Signalling
https://www.readbyqxmd.com/read/24947363/identification-of-novel-autoantibodies-in-type-1-diabetic-patients-using-a-high-density-protein-microarray
#20
Bo Kyung Koo, Sehyun Chae, Kristine M Kim, Min Jueng Kang, Eunhee G Kim, Soo Heon Kwak, Hye Seung Jung, Young Min Cho, Sung Hee Choi, Young Joo Park, Choong Ho Shin, Hak C Jang, Chan Soo Shin, Daehee Hwang, Eugene C Yi, Kyong Soo Park
Autoantibodies can facilitate diagnostic and therapeutic means for type 1 diabetes (T1DM). We profiled autoantibodies from serum samples of 16 T1DM patients, 16 type 2 diabetic (T2DM) patients, and 27 healthy control subjects with normal glucose tolerance (NGT) by using protein microarrays containing 9,480 proteins. Two novel autoantibodies, anti-EEF1A1 and anti-UBE2L3, were selected from microarrays followed by immunofluorescence staining of pancreas. We then tested the validity of the candidates by ELISA in two independent test cohorts: 1) 95 adults with T1DM, 49 with T2DM, 11 with latent autoimmune diabetes in adults (LADA), 20 with Graves disease, and 66 with NGT and 2) 33 children with T1DM and 34 healthy children...
September 2014: Diabetes
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