| Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. | Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
Pan X, Alvarez AN, Ma M, Lu S, Crawford MW, Briere LC, Kanca O, Yamamoto S, Sweetser DA, Wilson JL, Napier RJ, Pruneda JN, Bellen HJ., Free PMC Article | 04/2/2024 |
| Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy. | Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.
Al-Saady ML, Kaiser CS, Wakasuqui F, Korenke GC, Waisfisz Q, Polstra A, Pouwels PJW, Bugiani M, van der Knaap MS, Lunsing RJ, Liebau E, Wolf NI. | 04/16/2022 |
| Structure and dynamics of UBA5-UFM1 complex formation showing new insights in the UBA5 activation mechanism. | Structure and dynamics of UBA5-UFM1 complex formation showing new insights in the UBA5 activation mechanism.
Fuchs S, Kikhney AG, Schubert R, Kaiser C, Liebau E, Svergun DI, Betzel C, Perbandt M. | 04/2/2022 |
| Structural basis for UFM1 transfer from UBA5 to UFC1. | Structural basis for UFM1 transfer from UBA5 to UFC1.
Kumar M, Padala P, Fahoum J, Hassouna F, Tsaban T, Zoltsman G, Banerjee S, Cohen-Kfir E, Dessau M, Rosenzweig R, Isupov MN, Schueler-Furman O, Wiener R., Free PMC Article | 10/23/2021 |
| A Concerted Action of UBA5 C-Terminal Unstructured Regions Is Important for Transfer of Activated UFM1 to UFC1. | A Concerted Action of UBA5 C-Terminal Unstructured Regions Is Important for Transfer of Activated UFM1 to UFC1.
Wesch N, Löhr F, Rogova N, Dötsch V, Rogov VV., Free PMC Article | 08/14/2021 |
| A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy. | A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.
Cabrera-Serrano M, Coote DJ, Azmanov D, Goullee H, Andersen E, McLean C, Davis M, Ishimura R, Stark Z, Vallat JM, Komatsu M, Kornberg A, Ryan M, Laing NG, Ravenscroft G. | 07/10/2021 |
| An atypical LIR motif within UBA5 (ubiquitin like modifier activating enzyme 5) interacts with GABARAP proteins and mediates membrane localization of UBA5. | An atypical LIR motif within UBA5 (ubiquitin like modifier activating enzyme 5) interacts with GABARAP proteins and mediates membrane localization of UBA5.
Huber J, Obata M, Gruber J, Akutsu M, Löhr F, Rogova N, Güntert P, Dikic I, Kirkin V, Komatsu M, Dötsch V, Rogov VV., Free PMC Article | 11/28/2020 |
| Stimulates transfer of UFM1 from UBA5 to the E2, UFC1. | An N-Terminal Extension to UBA5 Adenylation Domain Boosts UFM1 Activation: Isoform-Specific Differences in Ubiquitin-like Protein Activation.
Soudah N, Padala P, Hassouna F, Kumar M, Mashahreh B, Lebedev AA, Isupov MN, Cohen-Kfir E, Wiener R. | 03/7/2020 |
| Likely pathogenic variants were identified in SOX5 gene, not previously associated with epilepsy, and UBA5, a recently associated with epilepsy gene | Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
Tumienė B, Maver A, Writzl K, Hodžić A, Čuturilo G, Kuzmanić-Šamija R, Čulić V, Peterlin B. | 09/28/2019 |
| our results further demonstrate the importance of post-translational modifications such as the addition of an ubiquitin-fold modifier 1 (UFM1) to target proteins (ufmylation) for normal neuronal networks activity, and reveal that the dysfunction of the ubiquitous UBA5 protein is a cause of EME. | Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.
Mignon-Ravix C, Milh M, Kaiser CS, Daniel J, Riccardi F, Cacciagli P, Nagara M, Busa T, Liebau E, Villard L. | 06/15/2019 |
| Hemizygous UBA5 missense mutation was identified in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay. | Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.
Low KJ, Baptista J, Babiker M, Caswell R, King C, Ellard S, Scurr I. | 03/16/2019 |
| results make a connection between the binding of UFM1 to UBA5 and the latter's affinity to ATP, so we propose a novel mechanism for the regulation of ATP's binding to E1. | Trans-binding of UFM1 to UBA5 stimulates UBA5 homodimerization and ATP binding.
Mashahreh B, Hassouna F, Soudah N, Cohen-Kfir E, Strulovich R, Haitin Y, Wiener R. | 01/5/2019 |
| UFM1 His 70 resembles UBA5 His336 and enters a negatively charged pocked on the other UFM1 molecule. | Novel insights into the interaction of UBA5 with UFM1 via a UFM1-interacting sequence.
Padala P, Oweis W, Mashahreh B, Soudah N, Cohen-Kfir E, Todd EA, Berndsen CE, Wiener R., Free PMC Article | 09/8/2018 |
| These findings explicitly elucidate the role of UBA5 dimerization in UFM1 activation. | Trans-Binding Mechanism of Ubiquitin-like Protein Activation Revealed by a UBA5-UFM1 Complex.
Oweis W, Padala P, Hassouna F, Cohen-Kfir E, Gibbs DR, Todd EA, Berndsen CE, Wiener R. | 02/10/2018 |
| Heterozygous mutations in the UBA5 gene in two sisters with early-onset epileptic encephalopathy . | Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
Arnadottir GA, Jensson BO, Marelsson SE, Sulem G, Oddsson A, Kristjansson RP, Benonisdottir S, Gudjonsson SA, Masson G, Thorisson GA, Saemundsdottir J, Magnusson OT, Jonasdottir A, Jonasdottir A, Sigurdsson A, Gudbjartsson DF, Thorsteinsdottir U, Arngrimsson R, Sulem P, Stefansson K., Free PMC Article | 10/14/2017 |
| clinical, biochemical, and experimental findings support our finding of UBA5 mutations as a pathophysiological cause for early-onset encephalopathies due to abnormal protein ufmylation | Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H, FREX Consortium, Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D., Free PMC Article | 05/6/2017 |
| Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy | Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Muona M, Ishimura R, Laari A, Ichimura Y, Linnankivi T, Keski-Filppula R, Herva R, Rantala H, Paetau A, Pöyhönen M, Obata M, Uemura T, Karhu T, Bizen N, Takebayashi H, McKee S, Parker MJ, Akawi N, McRae J, Hurles ME, DDD Study, Kuismin O, Kurki MI, Anttonen AK, Tanaka K, Palotie A, Waguri S, Lehesjoki AE, Komatsu M., Free PMC Article | 05/6/2017 |
| study provides important structural and functional insights into the interaction between UBA5 and Ub-like modifiers, improving the understanding of the biology of the ufmylation pathway. | Structural and Functional Analysis of a Novel Interaction Motif within UFM1-activating Enzyme 5 (UBA5) Required for Binding to Ubiquitin-like Proteins and Ufmylation.
Habisov S, Huber J, Ichimura Y, Akutsu M, Rogova N, Loehr F, McEwan DG, Johansen T, Dikic I, Doetsch V, Komatsu M, Rogov VV, Kirkin V., Free PMC Article | 11/5/2016 |
| The study of UBA5-R246X revealed a dramatically decreased half-life and loss of UFM1 activation due to the absence of the catalytic cysteine Cys250. | UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.
Duan R, Shi Y, Yu L, Zhang G, Li J, Lin Y, Guo J, Wang J, Shen L, Jiang H, Wang G, Tang B., Free PMC Article | 07/16/2016 |
| Uba5 residues 364-404 were demonstrated to be necessary for the transthiolation of Ufm1 to Ufc1, and Uba5 381-404 was identified to be the minimal region for Ufc1 recognition | Characterization, crystallization and preliminary X-ray crystallographic analysis of the human Uba5 C-terminus-Ufc1 complex.
Xie S., Free PMC Article | 04/4/2015 |
| Crystallization of Uba5 residues 57-363 was performed at 277 K using PEG 3350 as the precipitant, and crystals optimized by microseeding diffracted to 2.95 A resolution, with unit-cell parameters a=b=97.66, c=144.83 A, alpha=beta=90, gamma=120 degrees . | Characterization, crystallization and preliminary X-ray crystallographic analysis of the Uba5 fragment necessary for high-efficiency activation of Ufm1.
Xie S., Free PMC Article | 02/7/2015 |
| binding of ATP to Uba5 approximately Ufm1 thioester was required for efficient transfer of Ufm1 from Uba5 to Ufc1 via transthiolation. | Mechanistic study of Uba5 enzyme and the Ufm1 conjugation pathway.
Gavin JM, Hoar K, Xu Q, Ma J, Lin Y, Chen J, Chen W, Bruzzese FJ, Harrison S, Mallender WD, Bump NJ, Sintchak MD, Bence NF, Li P, Dick LR, Gould AE, Chen JJ., Free PMC Article | 12/20/2014 |
| Studies reveal structural features of UBA5 that further understanding of the enzyme reaction mechanism and provide insight into the evolution of ubiquitin activation. | Crystal structure of the human ubiquitin-activating enzyme 5 (UBA5) bound to ATP: mechanistic insights into a minimalistic E1 enzyme.
Bacik JP, Walker JR, Ali M, Schimmer AD, Dhe-Paganon S., Free PMC Article | 08/30/2010 |
| UBE1DC1 greatly activated SUMO2 in the nucleus or transferred activated-SUMO2 to nucleus after it conjugated SUMO2 in the cytoplasm. | UBE1DC1, an ubiquitin-activating enzyme, activates two different ubiquitin-like proteins.
Zheng M, Gu X, Zheng D, Yang Z, Li F, Zhao J, Xie Y, Ji C, Mao Y. | 01/21/2010 |