Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
ELAC2
RNA processing
cardiomyopathy
mitochondrial disease
neurological disease
Journal
Life (Basel, Switzerland)
ISSN: 2075-1729
Titre abrégé: Life (Basel)
Pays: Switzerland
ID NLM: 101580444
Informations de publication
Date de publication:
04 Feb 2023
04 Feb 2023
Historique:
received:
30
11
2022
revised:
30
01
2023
accepted:
01
02
2023
entrez:
25
2
2023
pubmed:
26
2
2023
medline:
26
2
2023
Statut:
epublish
Résumé
Transcription of mitochondrial DNA generates long polycistronic precursors whose nucleolytic cleavage yields the individual mtDNA-encoded transcripts. In most cases, this cleavage occurs at the 5'- and 3'-ends of tRNA sequences by the concerted action of RNAseP and RNaseZ/ELAC2 endonucleases, respectively. Variants in the
Identifiants
pubmed: 36836802
pii: life13020445
doi: 10.3390/life13020445
pmc: PMC9958991
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : French Muscular Dystrophy Association
ID : 19876, 22529
Organisme : Agence Nationale de la Recherche
ID : GENOMITANR-15-RAR3-0012-07
Références
Annu Rev Cell Biol. 1991;7:453-78
pubmed: 1809353
Nucleic Acids Res. 2017 Dec 1;45(21):12469-12480
pubmed: 29040705
Cell. 2008 Oct 31;135(3):462-74
pubmed: 18984158
EMBO Rep. 2018 Oct;19(10):
pubmed: 30126926
Am J Hum Genet. 2018 Apr 5;102(4):685-695
pubmed: 29576219
PLoS One. 2011 Apr 29;6(4):e19152
pubmed: 21559454
Hum Mol Genet. 2014 Jul 1;23(13):3618-28
pubmed: 24549042
Nat Methods. 2010 Apr;7(4):248-9
pubmed: 20354512
Hum Mutat. 2019 Oct;40(10):1731-1748
pubmed: 31045291
Hum Mutat. 2018 Dec;39(12):2047-2059
pubmed: 30252186
Cell Cycle. 2011 Sep 1;10(17):2904-16
pubmed: 21857155
Cardiology. 2017;137(3):188-192
pubmed: 28441660
Nucleic Acids Res. 2003 May 1;31(9):2272-8
pubmed: 12711671
Am J Hum Genet. 2013 Aug 8;93(2):211-23
pubmed: 23849775
Neurology. 2018 Oct 9;91(15):710-712
pubmed: 30217939
Hum Mutat. 2020 Feb;41(2):397-402
pubmed: 31680380
Nature. 1981 Apr 9;290(5806):470-4
pubmed: 7219536
RNA Biol. 2011 Jul-Aug;8(4):616-26
pubmed: 21593607
Orphanet J Rare Dis. 2016 Oct 21;11(1):139
pubmed: 27769300
Korean J Pediatr. 2017 Dec;60(12):408-412
pubmed: 29302266
Clin Chim Acta. 1994 Jul;228(1):35-51
pubmed: 7955428
Mol Genet Genomic Med. 2019 Dec;7(12):e1000
pubmed: 31654490
Dis Model Mech. 2021 Aug 1;14(8):
pubmed: 34338278
Am J Hum Genet. 2016 May 5;98(5):993-1000
pubmed: 27132592
Biochim Biophys Acta Mol Basis Dis. 2017 Dec;1863(12):3294-3302
pubmed: 28888424
J Pediatr Endocrinol Metab. 2022 Aug 10;35(11):1437-1442
pubmed: 35946480
Physiol Rev. 2008 Apr;88(2):611-38
pubmed: 18391175
Int J Mol Sci. 2021 Sep 01;22(17):
pubmed: 34502411
Trends Endocrinol Metab. 2005 May-Jun;16(4):167-75
pubmed: 15860413
Nat Protoc. 2009;4(7):1073-81
pubmed: 19561590
Biochem Biophys Res Commun. 2003 Jan 31;301(1):222-4
pubmed: 12535666