Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo
CTBP1
neurodevelopmental disorder
secondary mitochondrial dysfunction
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Nov 2022
Nov 2022
Historique:
received:
03
06
2022
revised:
11
08
2022
accepted:
16
08
2022
entrez:
7
11
2022
pubmed:
8
11
2022
medline:
8
11
2022
Statut:
epublish
Résumé
The C-terminal binding protein 1 (CTBP1) functions as a transcriptional corepressor in vertebrates and has been identified to have critical roles in nervous system growth and development. Pathogenic variants in the
Identifiants
pubmed: 36341169
doi: 10.1002/jmd2.12326
pii: JMD212326
pmc: PMC9626656
doi:
Types de publication
Case Reports
Langues
eng
Pagination
546-554Informations de copyright
© 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
Wui‐Kwan Wong, Shanti Balasubramaniam, Rachel SH Wong, Nicole Graf, David R Thorburn, Robert McFarland, and Christopher Troedson declare that they have no conflict of interest.
Références
Neurology. 2002 Nov 12;59(9):1406-11
pubmed: 12427892
Int J Nephrol. 2011;2011:609213
pubmed: 21811680
Cell Death Differ. 2009 Apr;16(4):584-92
pubmed: 19136938
Dev Neurosci. 2021;43(3-4):222-229
pubmed: 34350863
Neurol Genet. 2017 Sep 22;3(5):e187
pubmed: 28955726
Brain Dev. 2006 Oct;28(9):576-81
pubmed: 16737791
Neurogenetics. 2016 Jul;17(3):173-8
pubmed: 27094857
Clin Dysmorphol. 2020 Jul;29(3):148-151
pubmed: 32167997
J Genet. 2021;100:
pubmed: 34608870
J Dev Behav Pediatr. 2010 Sep;31(7):610-21
pubmed: 20814259
J Neurol Sci. 1993 Sep;118(2):181-7
pubmed: 8229067
Mol Syndromol. 2016 Jul;7(3):122-37
pubmed: 27587988
Neurogenetics. 2019 Aug;20(3):129-143
pubmed: 31041561
Front Neurosci. 2020 Oct 27;14:562292
pubmed: 33192249