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Page 1
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. Muona M, et al. Among authors: ishimura r. Am J Hum Genet. 2016 Sep 1;99(3):683-694. doi: 10.1016/j.ajhg.2016.06.020. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545674 Free PMC article.
Phosphorylation of p62 activates the Keap1-Nrf2 pathway during selective autophagy.
Ichimura Y, Waguri S, Sou YS, Kageyama S, Hasegawa J, Ishimura R, Saito T, Yang Y, Kouno T, Fukutomi T, Hoshii T, Hirao A, Takagi K, Mizushima T, Motohashi H, Lee MS, Yoshimori T, Tanaka K, Yamamoto M, Komatsu M. Ichimura Y, et al. Among authors: ishimura r. Mol Cell. 2013 Sep 12;51(5):618-31. doi: 10.1016/j.molcel.2013.08.003. Epub 2013 Sep 5. Mol Cell. 2013. PMID: 24011591 Free article.
Proteasome dysfunction activates autophagy and the Keap1-Nrf2 pathway.
Kageyama S, Sou YS, Uemura T, Kametaka S, Saito T, Ishimura R, Kouno T, Bedford L, Mayer RJ, Lee MS, Yamamoto M, Waguri S, Tanaka K, Komatsu M. Kageyama S, et al. Among authors: ishimura r. J Biol Chem. 2014 Sep 5;289(36):24944-55. doi: 10.1074/jbc.M114.580357. Epub 2014 Jul 21. J Biol Chem. 2014. PMID: 25049227 Free PMC article.
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Nahorski MS, Maddirevula S, Ishimura R, Alsahli S, Brady AF, Begemann A, Mizushima T, Guzmán-Vega FJ, Obata M, Ichimura Y, Alsaif HS, Anazi S, Ibrahim N, Abdulwahab F, Hashem M, Monies D, Abouelhoda M, Meyer BF, Alfadhel M, Eyaid W, Zweier M, Steindl K, Rauch A, Arold ST, Woods CG, Komatsu M, Alkuraya FS. Nahorski MS, et al. Among authors: ishimura r. Brain. 2018 Jul 1;141(7):1934-1945. doi: 10.1093/brain/awy135. Brain. 2018. PMID: 29868776 Free PMC article.
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. Cabrera-Serrano M, et al. Among authors: ishimura r. J Med Genet. 2020 Dec;57(12):835-842. doi: 10.1136/jmedgenet-2019-106496. Epub 2020 Mar 16. J Med Genet. 2020. PMID: 32179706 Free article.
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Briere LC, Walker MA, High FA, Cooper C, Rogers CA, Callahan CJ, Ishimura R, Ichimura Y, Caruso PA, Sharma N, Brokamp E, Koziura ME, Mohammad SS, Dale RC, Riley LG; Undiagnosed Diseases Network; Phillips JA, Komatsu M, Sweetser DA. Briere LC, et al. Among authors: ishimura r. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a005827. doi: 10.1101/mcs.a005827. Print 2021 Jun. Cold Spring Harb Mol Case Stud. 2021. PMID: 33811063 Free PMC article.
Loss of Atg2b and Gskip Impairs the Maintenance of the Hematopoietic Stem Cell Pool Size.
Sakai SS, Hasegawa A, Ishimura R, Tamura N, Kageyama S, Komatsu-Hirota S, Abe M, Ling Y, Okuda S, Funayama M, Kikkawa M, Miura Y, Sakimura K, Narita I, Waguri S, Shimizu R, Komatsu M. Sakai SS, et al. Among authors: ishimura r. Mol Cell Biol. 2022 Jan 20;42(1):e0002421. doi: 10.1128/MCB.00024-21. Epub 2021 Nov 8. Mol Cell Biol. 2022. PMID: 34748402 Free PMC article.
The UFM1 system regulates ER-phagy through the ufmylation of CYB5R3.
Ishimura R, El-Gowily AH, Noshiro D, Komatsu-Hirota S, Ono Y, Shindo M, Hatta T, Abe M, Uemura T, Lee-Okada HC, Mohamed TM, Yokomizo T, Ueno T, Sakimura K, Natsume T, Sorimachi H, Inada T, Waguri S, Noda NN, Komatsu M. Ishimura R, et al. Nat Commun. 2022 Dec 21;13(1):7857. doi: 10.1038/s41467-022-35501-0. Nat Commun. 2022. PMID: 36543799 Free PMC article.
52 results