NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.
Baraitser-Winter
actin acetylation
actin dynamics
hearing loss
post-translational actin modifications
Journal
Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125
Informations de publication
Date de publication:
2021
2021
Historique:
received:
24
03
2021
revised:
16
08
2021
accepted:
31
08
2021
entrez:
22
11
2021
pubmed:
23
11
2021
medline:
23
11
2021
Statut:
epublish
Résumé
The recent identification of NAA80/NAT6 as the enzyme that acetylates actins generated new insight into the process of post-translational actin modifications; however, the role of NAA80 in human physiology and pathology has not been clarified yet. We report two individuals from a single family harbouring a homozygous c.389T>C, p.(Leu130Pro)
Identifiants
pubmed: 34805998
doi: 10.1093/braincomms/fcab256
pii: fcab256
pmc: PMC8599064
doi:
Types de publication
Journal Article
Langues
eng
Pagination
fcab256Informations de copyright
© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.
Références
Trends Biochem Sci. 2016 Sep;41(9):746-760
pubmed: 27498224
Neuron. 1996 Jul;17(1):91-102
pubmed: 8755481
Hum Mutat. 2019 Dec;40(12):2286-2295
pubmed: 31397523
Nat Genet. 2007 Dec;39(12):1488-93
pubmed: 17994018
J Biol Chem. 1986 Feb 5;261(4):1838-43
pubmed: 3944112
J Biol Chem. 2006 Jul 21;281(29):20129-39
pubmed: 16690605
J Biol Chem. 2021 Jan-Jun;296:100789
pubmed: 34015330
Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):4405-4410
pubmed: 29581307
FEBS J. 2018 Sep;285(17):3299-3316
pubmed: 30028079
Eur J Neurosci. 1998 Dec;10(12):3785-98
pubmed: 9875357
Genet Med. 2019 Feb;21(2):464-470
pubmed: 29997393
Science. 2009 Nov 27;326(5957):1208-12
pubmed: 19965462
Am J Hum Genet. 2009 May;84(5):617-27
pubmed: 19409525
Hum Mol Genet. 2015 Jan 1;24(1):37-49
pubmed: 25124451
Nat Commun. 2015 Apr 21;6:6873
pubmed: 25898120
Gastroenterology. 2012 Dec;143(6):1482-1491.e3
pubmed: 22960657
PLoS Genet. 2014 Mar 27;10(3):e1004258
pubmed: 24676022
J Mol Cell Cardiol. 2000 Sep;32(9):1687-94
pubmed: 10966831
Nat Neurosci. 2006 Jan;9(1):50-7
pubmed: 16369480
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Braz J Cardiovasc Surg. 2015 Nov-Dec;30(6):644-9
pubmed: 26934405
Synapse. 1989;3(3):255-85
pubmed: 2655146
Cell Rep. 2015 Mar 24;10(11):1811-8
pubmed: 25772365
J Cell Biol. 1991 Feb;112(4):653-64
pubmed: 1993736
J Cell Biol. 2017 Oct 2;216(10):3387-3403
pubmed: 28765364
Am J Hum Genet. 2012 Nov 2;91(5):809-22
pubmed: 23103233
J Neurosci. 2003 Sep 24;23(25):8673-81
pubmed: 14507966
Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217
pubmed: 33264411
Nucleic Acids Res. 2018 Jan 4;46(D1):D754-D761
pubmed: 29155950
J Neurosci. 2013 May 8;33(19):8114-21
pubmed: 23658152
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245
Eur Heart J. 2007 Aug;28(16):1953-61
pubmed: 17611253
Mol Biol Cell. 2011 Nov;22(21):4047-58
pubmed: 21900491
J Clin Invest. 1999 May 15;103(10):R39-43
pubmed: 10330430
Trends Biochem Sci. 2019 Jun;44(6):502-516
pubmed: 30611609
Eur J Hum Genet. 2015 Mar;23(3):292-301
pubmed: 25052316
Nat Neurosci. 2001 Oct;4(10):1006-13
pubmed: 11574832
Acta Crystallogr D Biol Crystallogr. 1994 Nov 1;50(Pt 6):869-73
pubmed: 15299354
Mass Spectrom Rev. 2020 May;39(3):229-244
pubmed: 28691345
J Inherit Metab Dis. 2020 Jul;43(4):701-711
pubmed: 31804708
J Biol Chem. 2020 Dec 4;295(49):16713-16731
pubmed: 32978259
Ann Neurol. 2019 Mar;85(3):385-395
pubmed: 30635937
J Cell Sci. 2018 May 8;131(9):
pubmed: 29739859
Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):4399-4404
pubmed: 29581253
Nat Genet. 2012 Feb 26;44(4):440-4, S1-2
pubmed: 22366783
Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9703-8
pubmed: 19497859
Am J Hum Genet. 2003 Nov;73(5):1082-91
pubmed: 13680526
Mol Biol Cell. 2018 Aug 1;29(15):1856-1865
pubmed: 29874122
Nat Neurosci. 2004 Mar;7(3):254-60
pubmed: 14758365
Hum Mutat. 2002 Jan;19(1):4-15
pubmed: 11754098
Sci Adv. 2020 Apr 08;6(15):eaay8793
pubmed: 32284999