HMG-boxes, ribosomopathies and neurodegenerative disease.

RNA polymerase I (POLR1) TBP-TAF complex SL1 UBTF-E210K neuroregression syndrome ribosome biogenesis ribosomopathy upstream binding factor (UBF/UBTF)

Journal

Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621

Informations de publication

Date de publication:
2023
Historique:
received: 19 05 2023
accepted: 19 07 2023
medline: 21 8 2023
pubmed: 21 8 2023
entrez: 21 8 2023
Statut: epublish

Résumé

The UBTF E210K neuroregression syndrome is a predominantly neurological disorder caused by recurrent

Identifiants

pubmed: 37600660
doi: 10.3389/fgene.2023.1225832
pii: 1225832
pmc: PMC10435976
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

1225832

Subventions

Organisme : NINDS NIH HHS
ID : R56 NS123059
Pays : United States

Informations de copyright

Copyright © 2023 Moss, LeDoux and Crane-Robinson.

Déclaration de conflit d'intérêts

Author ML was employed by company Veracity Neuroscience LLC. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Références

Mol Cell Biol. 1990 Jul;10(7):3810-2
pubmed: 2355924
Cells. 2020 Sep 11;9(9):
pubmed: 32932838
PLoS One. 2016 Jun 14;11(6):e0157276
pubmed: 27299313
EMBO J. 1994 Jan 15;13(2):416-24
pubmed: 8313887
Chromosome Res. 2019 Mar;27(1-2):31-40
pubmed: 30617621
PLoS Genet. 2014 Aug 14;10(8):e1004505
pubmed: 25121932
Oncotarget. 2015 Sep 29;6(29):27519-36
pubmed: 26317157
Oncotarget. 2016 Aug 2;7(31):49800-49818
pubmed: 27391441
Brain Res. 2022 Oct 15;1793:148053
pubmed: 35973608
J Mol Biol. 1998 Aug 28;281(4):705-17
pubmed: 9710541
Nucleic Acids Res. 1999 Feb 15;27(4):1205-13
pubmed: 9927757
Int J Biochem Cell Biol. 2009 Jun;41(6):1229-32
pubmed: 19027870
Mol Cell. 2005 Jul 1;19(1):77-87
pubmed: 15989966
Mol Genet Genomic Med. 2022 Dec;10(12):e2054
pubmed: 36106513
Cell. 1989 Nov 3;59(3):489-97
pubmed: 2805069
Leukemia. 2023 Jun;37(6):1245-1253
pubmed: 37085611
Nucleic Acids Res. 1996 Aug 15;24(16):3208-15
pubmed: 8774902
Mol Syst Biol. 2014 Aug 22;10:747
pubmed: 25149558
Genet Med. 2020 Mar;22(3):547-556
pubmed: 31649276
Bioessays. 2019 Mar;41(3):e1800183
pubmed: 30706966
Nucleic Acids Res. 2001 Aug 1;29(15):3241-7
pubmed: 11470882
Cold Spring Harb Perspect Med. 2016 Dec 1;6(12):
pubmed: 27908926
Trends Biochem Sci. 2020 Aug;45(8):681-692
pubmed: 32448596
Proc Natl Acad Sci U S A. 1992 Aug 15;89(16):7340-4
pubmed: 1502143
Gene Expr. 1993;3(3):229-36
pubmed: 8019125
Genes Dev. 1990 Jun;4(6):943-54
pubmed: 2384215
Trends Genet. 2019 Oct;35(10):724-733
pubmed: 31358304
PLoS One. 2014 May 30;9(5):e98586
pubmed: 24879416
Nucleic Acids Res. 2008 Sep;36(15):5093-101
pubmed: 18676449
Nature. 1990 Apr 26;344(6269):830-6
pubmed: 2330041
Cell. 1997 Dec 26;91(7):1033-42
pubmed: 9428525
J Mol Biol. 2001 Sep 21;312(3):481-99
pubmed: 11563911
J Biol Chem. 2005 Aug 19;280(33):29551-8
pubmed: 15970593
Cell Mol Life Sci. 2011 Apr;68(8):1395-403
pubmed: 21207101
Mol Biol Cell. 2004 Feb;15(2):946-56
pubmed: 14595104
J Cell Sci. 2014 Aug 1;127(Pt 15):3309-19
pubmed: 24928901
Blood Cancer Discov. 2022 May 5;3(3):194-207
pubmed: 35176137
Mol Cell Biol. 2002 Jan;22(2):657-68
pubmed: 11756560
Protein Sci. 2021 Jan;30(1):70-82
pubmed: 32881101
J Cell Biol. 2008 Dec 29;183(7):1259-74
pubmed: 19103806
Trends Genet. 2019 Oct;35(10):754-767
pubmed: 31376929
Genomics. 2003 Dec;82(6):637-43
pubmed: 14611805
PLoS Genet. 2017 Jul 17;13(7):e1006899
pubmed: 28715449
Nat Rev Cancer. 2019 Apr;19(4):228-238
pubmed: 30670820
Proc Natl Acad Sci U S A. 1997 Mar 4;94(5):1733-8
pubmed: 9050847
PLoS Genet. 2022 Feb 9;18(2):e1009644
pubmed: 35139074
Neuropediatrics. 2019 Feb;50(1):57-60
pubmed: 30517966
Am J Hum Genet. 2015 May 7;96(5):765-74
pubmed: 25913037
Hum Mol Genet. 2018 Feb 15;27(4):691-705
pubmed: 29300972
Nat Cell Biol. 2018 Jul;20(7):789-799
pubmed: 29941930
EMBO J. 1994 Jun 1;13(11):2611-6
pubmed: 8013460
Science. 1994 May 20;264(5162):1134-7
pubmed: 8178172
NAR Cancer. 2020 Dec;2(4):zcaa032
pubmed: 33196044
Nat Rev Mol Cell Biol. 2019 Feb;20(2):116-131
pubmed: 30467428
Biochem Biophys Res Commun. 2009 Aug 21;386(2):396-401
pubmed: 19527688
Cell Mol Life Sci. 2007 Jan;64(1):29-49
pubmed: 17171232
Mol Cell. 2009 Aug 28;35(4):414-25
pubmed: 19716787
Genome Res. 2021 Nov;31(11):1971-1982
pubmed: 34407983
PLoS One. 2023 Mar 16;18(3):e0282689
pubmed: 36928239
Nat Rev Mol Cell Biol. 2021 Oct;22(10):671-690
pubmed: 34272502
Methods Mol Biol. 2016;1455:133-45
pubmed: 27576716
Hum Mol Genet. 2017 Aug 1;26(15):2874-2881
pubmed: 28472305
PLoS Genet. 2012;8(8):e1002892
pubmed: 22916032
Genes Chromosomes Cancer. 2023 Apr;62(4):202-209
pubmed: 36448876
Blood. 2010 Apr 22;115(16):3196-205
pubmed: 20194897
Neurol Sci. 2021 Mar;42(3):1217-1219
pubmed: 33026538
Am J Hum Genet. 2017 Aug 3;101(2):267-273
pubmed: 28777933
Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067
pubmed: 29165669
BMC Neurol. 2020 Jan 13;20(1):17
pubmed: 31931739
Am J Hum Genet. 2002 Dec;71(6):1443-9
pubmed: 12417987

Auteurs

Tom Moss (T)

Laboratory of Growth and Development, St-Patrick Research Group in Basic Oncology, Cancer Division of the Quebec University Hospital Research Centre, Québec, QC, Canada.
Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Laval University, Québec, QC, Canada.

Mark S LeDoux (MS)

Department of Psychology, University of Memphis, Memphis, TN, United States.
Veracity Neuroscience LLC, Memphis, TN, United States.

Colyn Crane-Robinson (C)

Biophysics Laboratories, School of Biology, University of Portsmouth, Portsmouth, United Kingdom.

Classifications MeSH