Genetic model of UBA5 deficiency highlights the involvement of both peripheral and central nervous systems and identifies widespread mitochondrial abnormalities.
UBA5
encephalopathy
mitochondria
ufmylation
zebrafish
Journal
Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125
Informations de publication
Date de publication:
2023
2023
Historique:
received:
07
12
2022
revised:
10
10
2023
accepted:
19
11
2023
medline:
4
12
2023
pubmed:
4
12
2023
entrez:
4
12
2023
Statut:
epublish
Résumé
Variants in
Identifiants
pubmed: 38046095
doi: 10.1093/braincomms/fcad317
pii: fcad317
pmc: PMC10691876
doi:
Types de publication
Journal Article
Langues
eng
Pagination
fcad317Informations de copyright
© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.
Déclaration de conflit d'intérêts
The authors report no competing interests.
Références
Acta Neuropathol. 2015 Sep;130(3):389-406
pubmed: 25931053
EMBO J. 2004 May 5;23(9):1977-86
pubmed: 15071506
Transl Psychiatry. 2020 Nov 6;10(1):385
pubmed: 33159045
PLoS One. 2011 Jan 14;6(1):e16156
pubmed: 21264253
Neuropediatrics. 2021 Dec;52(6):489-494
pubmed: 33853163
Acta Neuropathol Commun. 2020 Nov 9;8(1):189
pubmed: 33168089
Clin Genet. 2018 May;93(5):1057-1062
pubmed: 29286531
Hum Mutat. 2018 Jul;39(7):934-938
pubmed: 29663568
Nucleic Acids Res. 2014 Jul;42(Web Server issue):W401-7
pubmed: 24861617
J Cell Biochem. 2008 Aug 15;104(6):2324-34
pubmed: 18442052
J Med Genet. 2018 Dec;55(12):803-813
pubmed: 30287594
J Mol Biol. 2019 Feb 1;431(3):463-478
pubmed: 30412706
Expert Opin Drug Discov. 2009 Jul 1;4(7):715-726
pubmed: 19774094
Nat Commun. 2011 Feb 08;2:181
pubmed: 21304510
PLoS One. 2016 Feb 12;11(2):e0149039
pubmed: 26872069
Methods. 2018 Nov 1;150:49-62
pubmed: 29936090
Mol Microbiol. 2012 Oct;86(1):187-98
pubmed: 22897198
J Med Genet. 2020 Dec;57(12):835-842
pubmed: 32179706
Am J Hum Genet. 2016 Sep 1;99(3):695-703
pubmed: 27545681
BMC Med Genet. 2017 Oct 2;18(1):103
pubmed: 28965491
Am J Hum Genet. 2016 Sep 1;99(3):683-694
pubmed: 27545674
PLoS One. 2013 Aug 09;8(8):e70172
pubmed: 23950910
Eur J Med Genet. 2019 Feb;62(2):97-102
pubmed: 29902590
J Vis Exp. 2016 Oct 31;(116):
pubmed: 27842370
Hum Mol Genet. 2012 Sep 15;21(18):4073-83
pubmed: 22706277
J Neurosci. 2019 Oct 16;39(42):8200-8208
pubmed: 31619488
Epileptic Disord. 2018 Aug 1;20(4):313-318
pubmed: 30078785
Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):
pubmed: 33811063
Brain. 2018 Jul 1;141(7):1934-1945
pubmed: 29868776
Exp Cell Res. 2014 Jun 10;324(2):192-9
pubmed: 24726913
Dev Biol. 2000 Nov 15;227(2):279-93
pubmed: 11071755
Neurology. 2017 Oct 24;89(17):1821-1828
pubmed: 28931644