Encephalopathy-causing mutations in Gβ

Biological sciences Molecular neuroscience Neuroscience

Journal

iScience
ISSN: 2589-0042
Titre abrégé: iScience
Pays: United States
ID NLM: 101724038

Informations de publication

Date de publication:
24 Sep 2021
Historique:
received: 24 05 2021
revised: 04 08 2021
accepted: 18 08 2021
entrez: 15 9 2021
pubmed: 16 9 2021
medline: 16 9 2021
Statut: epublish

Résumé

Mutations in the

Identifiants

pubmed: 34522861
doi: 10.1016/j.isci.2021.103018
pii: S2589-0042(21)00986-X
pmc: PMC8426278
doi:

Types de publication

Journal Article

Langues

eng

Pagination

103018

Informations de copyright

© 2021 The Author(s).

Déclaration de conflit d'intérêts

D.B.G. is a founder of and holds equity in Q State Biosciences and Praxis Therapeutics; holds equity in Apostle Inc., and serves as a consultant to AstraZeneca, Gilead Sciences, GoldFinch Bio and Gossamer Bio. Other authors declare no competing interests.

Références

Am J Physiol Cell Physiol. 2021 Jun 1;320(6):C1125-C1140
pubmed: 33826405
Neuron. 1996 Feb;16(2):321-31
pubmed: 8789947
Nat Rev Neurosci. 2010 May;11(5):301-15
pubmed: 20389305
J Biol Chem. 2013 May 3;288(18):12680-91
pubmed: 23530039
Nat Biotechnol. 2003 May;21(5):539-45
pubmed: 12692560
J Physiol. 1997 Sep 15;503 ( Pt 3):547-62
pubmed: 9379410
Pflugers Arch. 2000 Aug;440(4):627-33
pubmed: 10958347
Pharmacol Rev. 2003 Dec;55(4):607-27
pubmed: 14657419
Cell. 2002 Dec 27;111(7):957-65
pubmed: 12507423
Am J Med Genet A. 2018 Nov;176(11):2259-2275
pubmed: 30194818
Cell. 1995 Dec 15;83(6):1047-58
pubmed: 8521505
Trends Endocrinol Metab. 2001 Nov;12(9):391-8
pubmed: 11595540
Cell Signal. 2009 Jun;21(6):1015-21
pubmed: 19258039
Pharmacol Rev. 2015 Oct;67(4):821-70
pubmed: 26362469
Mol Neurobiol. 2014 Feb;49(1):352-67
pubmed: 23934645
Neurochem Res. 2020 Jun;45(6):1247-1255
pubmed: 31414342
J Gen Physiol. 2017 May 1;149(5):533-546
pubmed: 28428202
J Biol Chem. 2002 Sep 27;277(39):36345-50
pubmed: 12124391
J Physiol. 2014 Dec 15;592(24):5373-90
pubmed: 25384780
ACS Chem Neurosci. 2019 Jan 16;10(1):358-370
pubmed: 30136838
Nat Med. 2015 Jan;21(1):71-5
pubmed: 25485910
Neurosignals. 2009;17(1):5-22
pubmed: 18948702
J Gen Physiol. 1992 Jun;99(6):961-83
pubmed: 1640222
Sci Signal. 2013 Aug 13;6(288):ra69
pubmed: 23943609
Int Rev Neurobiol. 2015;123:1-26
pubmed: 26422981
Biochem Biophys Res Commun. 1996 Jun 14;223(2):474-9
pubmed: 8670306
Q Rev Biophys. 2006 May;39(2):117-66
pubmed: 16923326
Mol Pharmacol. 2001 Nov;60(5):1121-32
pubmed: 11641441
Cell Rep. 2020 Oct 27;33(4):108303
pubmed: 33113364
J Physiol. 2007 May 15;581(Pt 1):17-32
pubmed: 17289785
Proc Natl Acad Sci U S A. 2014 Jul 22;111(29):10755-60
pubmed: 25002517
J Biol Chem. 2011 Jan 21;286(3):2215-23
pubmed: 21075842
Cell. 2017 Aug 24;170(5):828-843
pubmed: 28841416
Hum Mol Genet. 2017 Mar 15;26(6):1078-1086
pubmed: 28087732
Curr Protoc Pharmacol. 2015 Sep 01;70:2.14.1-2.14.14
pubmed: 26331887
Brain Dev. 2020 Feb;42(2):199-204
pubmed: 31735425
Science. 2003 May 23;300(5623):1256-62
pubmed: 12764189
Physiol Rev. 1995 Oct;75(4):865-85
pubmed: 7480165
Nat Rev Mol Cell Biol. 2008 Jan;9(1):60-71
pubmed: 18043707
J Gen Physiol. 1997 Feb;109(2):245-53
pubmed: 9041452
Prog Neurobiol. 2012 Mar;96(3):304-21
pubmed: 22307060
J Physiol. 1991 Aug;439:181-214
pubmed: 1654413
Oncogene. 2017 Oct 26;36(43):5985-5994
pubmed: 28650474
J Biol Chem. 2001 Apr 6;276(14):11409-13
pubmed: 11148218
Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10783-8
pubmed: 12124401
J Biol Chem. 1997 Dec 12;272(50):31553-60
pubmed: 9395492
PLoS Comput Biol. 2015 Nov 06;11(11):e1004598
pubmed: 26544551
Cell. 1981 Nov;27(1 Pt 2):183-91
pubmed: 7198941
Pharmacol Ther. 2021 Jul;223:107808
pubmed: 33476640
Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):14193-8
pubmed: 8943083
J Biol Chem. 2011 Sep 23;286(38):33223-35
pubmed: 21795707
Nature. 1989 Jul 13;340(6229):153-6
pubmed: 2567963
Neuropharmacology. 2009 Feb;56(2):499-506
pubmed: 18977371
Science. 1998 May 22;280(5367):1271-4
pubmed: 9596582
Biochim Biophys Acta. 2013 Jul;1828(7):1629-43
pubmed: 23063655
J Mol Neurosci. 2009 Mar;37(3):201-11
pubmed: 18622586
Neuron. 1996 Feb;16(2):423-9
pubmed: 8789957
Biochim Biophys Acta. 2013 Apr;1828(4):1214-21
pubmed: 23305758
J Biol Chem. 2010 Feb 26;285(9):6179-85
pubmed: 20018875
Proc Natl Acad Sci U S A. 1993 Nov 1;90(21):10235-9
pubmed: 8234283
J Gen Physiol. 2006 Jul;128(1):15-36
pubmed: 16801381
Pharmacol Rev. 2006 Dec;58(4):837-62
pubmed: 17132857
ACS Chem Neurosci. 2013 Sep 18;4(9):1278-86
pubmed: 23730969
J Biol Chem. 2010 Jul 2;285(27):20462-71
pubmed: 20435886
Elife. 2016 Apr 13;5:
pubmed: 27074662
Biomed Pharmacother. 2018 May;101:362-370
pubmed: 29499411
Am J Hum Genet. 2016 May 5;98(5):1001-1010
pubmed: 27108799
Protein Sci. 2018 Jan;27(1):129-134
pubmed: 28875543
Trends Neurosci. 2014 Jan;37(1):20-9
pubmed: 24268819
Bioinformatics. 2016 Dec 1;32(23):3676-3678
pubmed: 27503228
J Physiol. 2009 Jul 15;587(Pt 14):3473-91
pubmed: 19470775
Nature. 1995 Mar 9;374(6518):135-41
pubmed: 7877685
J Biol Chem. 2003 Feb 7;278(6):3840-5
pubmed: 12488455
Genetics. 2012 Mar;190(3):841-54
pubmed: 22419077
J Biol Chem. 2002 Dec 13;277(50):48289-94
pubmed: 12376541
J Physiol. 2000 May 1;524 Pt 3:737-55
pubmed: 10790155
Cell Rep. 2020 Jun 16;31(11):107770
pubmed: 32553165
Biochemistry. 2017 Oct 10;56(40):5405-5416
pubmed: 28880079
Bioinformatics. 2014 Feb 01;30(3):335-42
pubmed: 24281696
Sci Rep. 2019 Jan 24;9(1):508
pubmed: 30679535
J Biol Chem. 2005 Apr 29;280(17):16685-94
pubmed: 15728579
Int Rev Neurobiol. 2015;123:27-85
pubmed: 26422982
J Biol Chem. 2001 Apr 20;276(16):12712-7
pubmed: 11278861
Nature. 2013 Jun 13;498(7453):190-7
pubmed: 23739333
Brain Commun. 2021 Mar 09;3(2):fcab021
pubmed: 34159317

Auteurs

Haritha P Reddy (HP)

Department of Physiology and Pharmacology, School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
Department of Biotechnology, Bhupat and Jyoti Mehta School of Biosciences, Indian Institute of Technology Madras, Chennai 600036, India.

Daniel Yakubovich (D)

Department of Physiology and Pharmacology, School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
Department of Pediatrics, Schneider Children's Medical Center, Petah Tikva, Israel.

Tal Keren-Raifman (T)

Department of Physiology and Pharmacology, School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.

Galit Tabak (G)

Department of Physiology and Pharmacology, School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.

Vladimir A Tsemakhovich (VA)

Department of Physiology and Pharmacology, School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.

Maria H Pedersen (MH)

Departments of Psychiatry & Molecular Pharmacology and Therapeutics, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA.
Division of Molecular Therapeutics, New York State Psychiatric Institute, New York, NY, USA.
NNF Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, København, Denmark.

Boris Shalomov (B)

Department of Physiology and Pharmacology, School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.

Sophie Colombo (S)

Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY10032, USA.

David B Goldstein (DB)

Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY10032, USA.
Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY10032, USA.

Jonathan A Javitch (JA)

Departments of Psychiatry & Molecular Pharmacology and Therapeutics, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA.
Division of Molecular Therapeutics, New York State Psychiatric Institute, New York, NY, USA.

Amal K Bera (AK)

Department of Biotechnology, Bhupat and Jyoti Mehta School of Biosciences, Indian Institute of Technology Madras, Chennai 600036, India.

Nathan Dascal (N)

Department of Physiology and Pharmacology, School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 6997801, Israel.

Classifications MeSH