Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.
DHPS
DOHH
EIF5A1
deoxyhypusine hydroxylase
eIF5A
hypusine
microcephaly
neurodevelopmental disorder
post-translational modification
translation
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
04 08 2022
04 08 2022
Historique:
received:
09
11
2021
accepted:
21
06
2022
pubmed:
21
7
2022
medline:
10
8
2022
entrez:
20
7
2022
Statut:
ppublish
Résumé
Deoxyhypusine hydroxylase (DOHH) is the enzyme catalyzing the second step in the post-translational synthesis of hypusine [N
Identifiants
pubmed: 35858628
pii: S0002-9297(22)00263-4
doi: 10.1016/j.ajhg.2022.06.010
pmc: PMC9388783
pii:
doi:
Substances chimiques
hypusine
3874VXF092
Mixed Function Oxygenases
EC 1.-
deoxyhypusine hydroxylase
EC 1.14.99.29
Lysine
K3Z4F929H6
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1549-1558Informations de copyright
Copyright © 2022 American Society of Human Genetics. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of interests The authors declare no competing interests.
Références
J Clin Invest. 2005 Jan;115(1):76-85
pubmed: 15630446
Nucleic Acids Res. 2016 Feb 29;44(4):1944-51
pubmed: 26715760
J Biol Chem. 1995 Sep 22;270(38):22386-92
pubmed: 7673224
Mol Cell. 2017 Apr 20;66(2):194-205.e5
pubmed: 28392174
J Biol Chem. 1991 May 5;266(13):7988-94
pubmed: 1850732
Amino Acids. 2012 Feb;42(2-3):703-10
pubmed: 21850436
J Cell Biol. 2009 Jun 29;185(7):1181-94
pubmed: 19546244
J Biol Chem. 2006 May 12;281(19):13217-13225
pubmed: 16533814
Hum Mutat. 2015 Oct;36(10):928-30
pubmed: 26220891
J Biol Chem. 2013 Dec 20;288(51):36226-35
pubmed: 24196968
Proc Natl Acad Sci U S A. 2006 Jan 3;103(1):51-6
pubmed: 16371467
Amino Acids. 2016 Oct;48(10):2353-62
pubmed: 27357307
Differentiation. 2004 Mar;72(2-3):81-91
pubmed: 15066188
Crit Rev Biochem Mol Biol. 2014 Sep-Oct;49(5):413-25
pubmed: 25029904
Proc Natl Acad Sci U S A. 2007 Mar 6;104(10):4194-9
pubmed: 17360499
J Cell Physiol. 2010 Nov;225(2):500-5
pubmed: 20458750
Am J Hum Genet. 2019 Feb 7;104(2):287-298
pubmed: 30661771
Amino Acids. 2022 Apr;54(4):485-499
pubmed: 34273022
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Nucleic Acids Res. 2019 Jan 25;47(2):855-867
pubmed: 30517694
Mol Cell Proteomics. 2005 Jul;4(7):993-1001
pubmed: 15855174
Dis Model Mech. 2014 Aug;7(8):963-76
pubmed: 24832488
J Biol Chem. 2018 Nov 30;293(48):18710-18718
pubmed: 30257869
J Biol Chem. 1988 Jun 5;263(16):7447-9
pubmed: 3131321
J Biol Chem. 2021 Nov;297(5):101333
pubmed: 34688659
Nat Commun. 2021 Feb 5;12(1):833
pubmed: 33547280
Trends Genet. 2018 Mar;34(3):218-231
pubmed: 29352613
Structure. 2015 May 5;23(5):882-892
pubmed: 25865244
Amino Acids. 2007 Aug;33(2):341-50
pubmed: 17476569