4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations.
Drugs
Musculoskeletal medicine
Journal
iScience
ISSN: 2589-0042
Titre abrégé: iScience
Pays: United States
ID NLM: 101724038
Informations de publication
Date de publication:
21 Jan 2022
21 Jan 2022
Historique:
received:
13
07
2021
revised:
06
10
2021
accepted:
15
12
2021
entrez:
14
1
2022
pubmed:
15
1
2022
medline:
15
1
2022
Statut:
epublish
Résumé
Dysferlinopathies are muscular dystrophies caused by recessive loss-of-function mutations in dysferlin (
Identifiants
pubmed: 35028538
doi: 10.1016/j.isci.2021.103667
pii: S2589-0042(21)01637-0
pmc: PMC8741482
doi:
Types de publication
Journal Article
Langues
eng
Pagination
103667Informations de copyright
© 2021 The Author(s).
Déclaration de conflit d'intérêts
L.P.G. is a founder of Elysium Health and Galilei Biosciences.
Références
Front Physiol. 2014 Mar 06;5:89
pubmed: 24639655
Exp Cell Res. 2012 Jan 15;318(2):127-35
pubmed: 22020321
Nat Methods. 2012 Jun 28;9(7):676-82
pubmed: 22743772
PLoS One. 2012;7(11):e49603
pubmed: 23185377
Neurology. 2000 Dec 26;55(12):1931-3
pubmed: 11134403
Bioorg Med Chem Lett. 2013 Nov 1;23(21):6015-8
pubmed: 24044874
J Biol Chem. 2010 Sep 10;285(37):28529-39
pubmed: 20595382
Am J Respir Crit Care Med. 1998 Feb;157(2):484-90
pubmed: 9476862
Ann Neurol. 2001 Jan;49(1):130-4
pubmed: 11198284
Eur J Hum Genet. 2011 Sep;19(9):974-80
pubmed: 21522182
Hum Mol Genet. 2007 Mar 15;16(6):618-29
pubmed: 17331981
Neurol Genet. 2016 Aug 04;2(4):e89
pubmed: 27602406
N Engl J Med. 2020 Sep 3;383(10):919-930
pubmed: 32877582
J Clin Invest. 2005 Sep;115(9):2564-71
pubmed: 16127463
Hum Mutat. 2005 Aug;26(2):165
pubmed: 16010686
Hum Mol Genet. 2018 Mar 15;27(6):969-984
pubmed: 29351619
J Vasc Surg. 2010 Dec;52(6):1580-6
pubmed: 20843623
Nat Commun. 2017 Mar 24;8:14659
pubmed: 28337975
Biophys J. 2014 Jan 21;106(2):382-9
pubmed: 24461013
J Clin Invest. 1997 Nov 15;100(10):2457-65
pubmed: 9366560
Traffic. 2012 Feb;13(2):185-94
pubmed: 21838746
Trends Cell Biol. 2004 Apr;14(4):206-13
pubmed: 15066638
J Biol Chem. 2013 May 17;288(20):14147-14157
pubmed: 23558685
Nature. 2003 May 8;423(6936):168-72
pubmed: 12736685
Muscle Nerve. 2016 Nov;54(5):821-835
pubmed: 27501525
Int J Biochem Cell Biol. 2015 Apr;61:45-52
pubmed: 25660369
Nat Genet. 1998 Sep;20(1):31-6
pubmed: 9731526
ACS Synth Biol. 2015 Jun 19;4(6):689-99
pubmed: 25494287
Int J Mol Sci. 2020 Mar 06;21(5):
pubmed: 32155735
Chem Biol Interact. 2015 Dec 5;242:99-106
pubmed: 26428355
BMC Evol Biol. 2010 Jul 29;10:231
pubmed: 20667140
Mol Ther Nucleic Acids. 2018 Dec 7;13:198-207
pubmed: 30292141
Redox Biol. 2019 Sep;26:101232
pubmed: 31181458
J Lipid Res. 2019 Aug;60(8):1350-1364
pubmed: 31203232
Chin Med J (Engl). 2016 5th Oct;129(19):2287-93
pubmed: 27647186