Two
GRIN
de novo mutation
encephalopathy
human
ligand binding domain
loss of function
medicine
neurons
neuroscience
xenopus
Journal
eLife
ISSN: 2050-084X
Titre abrégé: Elife
Pays: England
ID NLM: 101579614
Informations de publication
Date de publication:
02 07 2021
02 07 2021
Historique:
received:
15
02
2021
accepted:
27
06
2021
pubmed:
3
7
2021
medline:
9
10
2021
entrez:
2
7
2021
Statut:
epublish
Résumé
The N-methyl-D-aspartate receptors (NMDARs; GluNRS) are glutamate receptors, commonly located at excitatory synapses. Mutations affecting receptor function often lead to devastating neurodevelopmental disorders. We have identified two toddlers with different heterozygous missense mutations of the same, and highly conserved, glycine residue located in the ligand-binding-domain of
Identifiants
pubmed: 34212862
doi: 10.7554/eLife.67555
pii: 67555
pmc: PMC8260228
doi:
pii:
Substances chimiques
NR2B NMDA receptor
0
Receptors, N-Methyl-D-Aspartate
0
Glutamic Acid
3KX376GY7L
Banques de données
Dryad
['10.5061/dryad.1jwstqjv3']
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Israel Science Foundation
ID : 1096/17
Organisme : Teva Pharmaceutical Industries
ID : PR783187
Informations de copyright
© 2021, Kellner et al.
Déclaration de conflit d'intérêts
SK, AA, IC, RH, TG, TH, MG, YH, KJ, RS, SB No competing interests declared
Références
Nat Rev Neurosci. 2013 Jun;14(6):383-400
pubmed: 23686171
Biophys J. 1999 Jun;76(6):2899-911
pubmed: 10354418
J Neurosci. 1987 Feb;7(2):369-79
pubmed: 2880938
J Biol Chem. 2010 Feb 26;285(9):6179-85
pubmed: 20018875
Nat Rev Drug Discov. 2006 Feb;5(2):160-70
pubmed: 16424917
PLoS Biol. 2020 Apr 30;18(4):e3000717
pubmed: 32353004
J Neurochem. 1985 Apr;44(4):1056-9
pubmed: 3973604
Front Cell Neurosci. 2014 Nov 27;8:394
pubmed: 25505872
Nat Neurosci. 2002 May;5(5):405-14
pubmed: 11953750
Eur J Pharmacol. 1990 Feb 27;177(3):215-6
pubmed: 2155812
J Med Genet. 2017 Jul;54(7):460-470
pubmed: 28377535
J Neurosci. 2004 Feb 25;24(8):2054-64
pubmed: 14985448
Stem Cell Reports. 2018 Jul 10;11(1):183-196
pubmed: 29937144
J Neurosci. 2017 Apr 12;37(15):4093-4102
pubmed: 28283559
J Biol Chem. 2003 Jun 20;278(25):22482-91
pubmed: 12684524
N Engl J Med. 1994 Mar 3;330(9):613-22
pubmed: 7905600
Proc Natl Acad Sci U S A. 2019 Oct 8;116(41):20736-20742
pubmed: 31548413
Proc Natl Acad Sci U S A. 2004 May 25;101(21):8198-203
pubmed: 15150412
Nat Rev Neurosci. 2007 Aug;8(8):597-609
pubmed: 17637801
J Pharmacol Exp Ther. 1999 Sep;290(3):1026-33
pubmed: 10454474
Brain. 2019 Jan 1;142(1):80-92
pubmed: 30544257
Neuroscientist. 2007 Feb;13(1):28-37
pubmed: 17229973
Nat Chem Biol. 2018 Sep;14(9):861-869
pubmed: 30061718
J Gen Physiol. 2018 Aug 6;150(8):1081-1105
pubmed: 30037851
Science. 2020 Oct 9;370(6513):
pubmed: 33033186
Proc Natl Acad Sci U S A. 2021 May 25;118(21):
pubmed: 34001616
Front Pharmacol. 2020 Aug 12;11:1216
pubmed: 32903404
Cell. 2006 May 19;125(4):785-99
pubmed: 16713568
Elife. 2016 Mar 01;5:
pubmed: 26929991
Nat Commun. 2018 Sep 14;9(1):3748
pubmed: 30217972
Br J Pharmacol. 2009 Aug;157(8):1301-17
pubmed: 19594762
PLoS Genet. 2017 Jan 17;13(1):e1006536
pubmed: 28095420
J Neurosci. 2005 Jan 5;25(1):42-51
pubmed: 15634765
Elife. 2021 Jul 02;10:
pubmed: 34212862
Nat Neurosci. 2009 Sep;12(9):1114-20
pubmed: 19648915
Neuropharmacology. 2020 Oct 15;177:108247
pubmed: 32712275
Nat Genet. 2010 Nov;42(11):1021-6
pubmed: 20890276
Biophys J. 2007 Feb 15;92(4):1343-9
pubmed: 17114218
Neuron. 2002 May 16;34(4):613-21
pubmed: 12062044
J Biol Chem. 2009 Jan 2;284(1):324-333
pubmed: 18990687
Hum Mol Genet. 2021 Feb 25;29(24):3859-3871
pubmed: 33043365
Pharmacol Rev. 2010 Sep;62(3):405-96
pubmed: 20716669
Nat Commun. 2018 Mar 6;9(1):957
pubmed: 29511171
Sci Signal. 2019 Jun 18;12(586):
pubmed: 31213567
Elife. 2018 May 24;7:
pubmed: 29792594
Science. 1995 May 12;268(5212):873-6
pubmed: 7754371
J Med Chem. 2019 Jan 10;62(1):3-23
pubmed: 29446949
EMBO J. 2011 Jun 17;30(15):3134-46
pubmed: 21685875
Front Mol Neurosci. 2018 Apr 06;11:110
pubmed: 29681796
Nat Commun. 2014;5:3349
pubmed: 24561802
PLoS Comput Biol. 2015 Nov 06;11(11):e1004598
pubmed: 26544551
ChemMedChem. 2019 Aug 20;14(16):1467-1483
pubmed: 31310701
Neurology. 2016 Jun 7;86(23):2171-8
pubmed: 27164704
Curr Opin Pharmacol. 2015 Feb;20:14-23
pubmed: 25462287
J Neurosci. 2018 Mar 28;38(13):3218-3229
pubmed: 29476014
J Biol Chem. 2011 Sep 23;286(38):33223-35
pubmed: 21795707
Brain. 2020 Jul 1;143(7):2039-2057
pubmed: 32577763
Am J Hum Genet. 2016 Dec 1;99(6):1261-1280
pubmed: 27839871
Neuron. 2002 Jan 3;33(1):87-99
pubmed: 11779482
Ann Clin Transl Neurol. 2014 Mar 1;1(3):190-198
pubmed: 24839611
Hum Mutat. 2019 Dec;40(12):2393-2413
pubmed: 31429998
Hum Mutat. 2021 Jan;42(1):8-18
pubmed: 33252190
Neurosci Bull. 2018 Jun;34(3):549-565
pubmed: 29124671
J Biol Chem. 2012 Aug 10;287(33):27432-45
pubmed: 22740692
Mol Pharmacol. 1992 Apr;41(4):727-35
pubmed: 1373801
J R Soc Interface. 2018 Apr;15(141):
pubmed: 29643227
J Pharmacol Exp Ther. 2010 Dec;335(3):614-21
pubmed: 20858708
Nat Rev Dis Primers. 2018 May 03;4:18024
pubmed: 29722352
Mol Pharmacol. 2015 Jul;88(1):203-17
pubmed: 25904555
Mol Pharmacol. 2003 Jun;63(6):1212-22
pubmed: 12761330
Nat Rev Neurosci. 2007 Jun;8(6):413-26
pubmed: 17514195
Acta Neurobiol Exp (Wars). 1992;52(2):83-91
pubmed: 1414510
Liver Transpl. 2016 Sep;22(9):1231-44
pubmed: 27102080
Curr Opin Physiol. 2018 Apr;2:27-35
pubmed: 29756080
Science. 2014 May 30;344(6187):992-7
pubmed: 24876489
Eur J Med Genet. 2017 Jun;60(6):317-320
pubmed: 28389307
Drug Discov Today. 2019 Feb;24(2):606-615
pubmed: 30447328
Neurosci Res. 2002 Aug;43(4):335-42
pubmed: 12135777
Front Cell Neurosci. 2015 May 18;9:188
pubmed: 26041994
Proteins. 2018 Dec;86(12):1265-1276
pubmed: 30168177
PLoS One. 2014 Jun 12;9(6):e99184
pubmed: 24921942
Neuron. 2016 Mar 2;89(5):983-99
pubmed: 26875626
Neuroscience. 1995 Jun;66(3):635-43
pubmed: 7644027
F1000Res. 2019 Nov 20;8:
pubmed: 31807283
Eur J Hum Genet. 2016 May;24(5):660-5
pubmed: 26350515
Bioinformatics. 2014 Feb 01;30(3):335-42
pubmed: 24281696
Pharmacol Res. 2016 Oct;112:99-118
pubmed: 27015893