| Identification of Ubr1 as an amino acid sensor of steatosis in liver and muscle. | Identification of Ubr1 as an amino acid sensor of steatosis in liver and muscle.
Zhao W, Zhang Y, Lin S, Li Y, Zhu AJ, Shi H, Liu M., Free PMC Article | 06/7/2023 |
| Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca(2+)-induced proteostasis disease stress. | Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca(2+)-induced proteostasis disease stress.
Wang BB, Xu H, Isenmann S, Huang C, Elorza-Vidal X, Rychkov GY, Estévez R, Schittenhelm RB, Lukacs GL, Apaja PM., Free PMC Article | 03/12/2022 |
| UBR1 mutations of single or multi-exon deletions or duplications account for a substantial proportion of Johanson-Blizzard syndrome. | Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
Sukalo M, Schäflein E, Schanze I, Everman DB, Rezaei N, Argente J, Lorda-Sanchez I, Deshpande C, Takahashi T, Kleger A, Zenker M., Free PMC Article | 01/20/2018 |
| The frequency of any non-synonymous or synonymous variants was not different between the patients with chronic pancreatitis and controls | Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan.
Masamune A, Nakano E, Niihori T, Hamada S, Nagasaki M, Aoki Y, Shimosegawa T. | 04/1/2017 |
| Reduced UBR1 expression affects MGMT turnover and DNA repair in the smokers lungs. | Implication of a Chromosome 15q15.2 Locus in Regulating UBR1 and Predisposing Smokers to MGMT Methylation in Lung.
Leng S, Wu G, Collins LB, Thomas CL, Tellez CS, Jauregui AR, Picchi MA, Zhang X, Juri DE, Desai D, Amin SG, Crowell RE, Stidley CA, Liu Y, Swenberg JA, Lin Y, Wathelet MG, Gilliland FD, Belinsky SA., Free PMC Article | 10/31/2015 |
| For all previously reported and novel UBR1 mutations together with their clinical data, a mutation database has been established at LOVD. | Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. | 12/20/2014 |
| Testing the fetus and the affected sibling with recurrent Johanson-Blizzard syndrome revealed a homozygous truncating mutation in UBR1. | Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.
Schoner K, Fritz B, Huelskamp G, Louwen F, Zenker M, Moll R, Rehder H. | 05/19/2012 |
| Results confirmed the relevance of specific missense UBR1 alleles to JBS, and suggested that a residual activity of a missense allele is causally associated with milder variants of JBS. | Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.
Hwang CS, Sukalo M, Batygin O, Addor MC, Brunner H, Aytes AP, Mayerle J, Song HK, Varshavsky A, Zenker M., Free PMC Article | 03/3/2012 |
| Molecular studies revealed a novel homozygous nonsense mutation in exon 38 of the UBR1 gene, which confirmed the diagnosis of Johanson-Blizzard syndrome. | Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.
Fallahi GH, Sabbaghian M, Khalili M, Parvaneh N, Zenker M, Rezaei N. | 07/2/2011 |
| Ubc2/Rad6 ser(120) regulates ubiquitin-dependent N-end rule targeting by E3{alpha}/Ubr1 | Ser(120) of Ubc2/Rad6 regulates ubiquitin-dependent N-end rule targeting by E3{alpha}/Ubr1.
Kumar B, Lecompte KG, Klein JM, Haas AL., Free PMC Article | 02/26/2011 |
| Case Report: Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. | Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.
Alkhouri N, Kaplan B, Kay M, Shealy A, Crowe C, Bauhuber S, Zenker M., Free PMC Article | 01/21/2010 |
| study reports on two apparently unrelated girls with Johanson-Blizzard syndrome, in both children caused by a homozygous IVS26+5G>A mutation in the UBR1 gene | Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.
Elting M, Kariminejad A, de Sonnaville ML, Ottenkamp J, Bauhuber S, Bozorgmehr B, Zenker M, Cobben JM. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population.
Yamaguchi Y, Moritani M, Tanahashi T, Osabe D, Nomura K, Fujita Y, Keshavarz P, Kunika K, Nakamura N, Yoshikawa T, Ichiishi E, Shiota H, Yasui N, Inoue H, Itakura M., Free PMC Article | 04/16/2008 |
| E3 ubiquitin ligase is an essential downstream component of the RAS signal transduction pathway. | Inhibition of RAS-mediated transformation and tumorigenesis by targeting the downstream E3 ubiquitin ligase seven in absentia homologue.
Schmidt RL, Park CH, Ahmed AU, Gundelach JH, Reed NR, Cheng S, Knudsen BE, Tang AH. | 01/21/2010 |
| Thiazolidinediones modulate the expression of beta catenin and other cell cycle proteins by targeting UBR1 independently of PPARG. | Thiazolidinediones modulate the expression of beta-catenin and other cell-cycle regulatory proteins by targeting the F-box proteins of Skp1-Cul1-F-box protein E3 ubiquitin ligase independently of peroxisome proliferator-activated receptor gamma.
Wei S, Lin LF, Yang CC, Wang YC, Chang GD, Chen H, Chen CS. | 01/21/2010 |
| These results suggest that Rabring7 is involved in the endocytic trafficking of EGFR through its E3 ligase activity. | Involvement of Rabring7 in EGF receptor degradation as an E3 ligase.
Sakane A, Hatakeyama S, Sasaki T. | 01/21/2010 |
| Deficiency of UBR1 perturbs the pancreas' acinar cells and other organs, presumably owing to metabolic stabilization of specific substrates of the N-end rule pathway. | Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A. | 01/21/2010 |
| Sustained ERK5 activity and the E3 ligase UBR1 regulate the stability and subcellular localization of c-Fos. | Spatiotemporal regulation of c-Fos by ERK5 and the E3 ubiquitin ligase UBR1, and its biological role.
Sasaki T, Kojima H, Kishimoto R, Ikeda A, Kunimoto H, Nakajima K. | 01/21/2010 |
| Thus we propose that autoISGylation of EFP negatively regulates its ISG15 E3 ligase activity for 14-3-3sigma. | Negative regulation of ISG15 E3 ligase EFP through its autoISGylation.
Zou W, Wang J, Zhang DE., Free PMC Article | 01/21/2010 |