CFTR Folding: From Structure and Proteostasis to Cystic Fibrosis Personalized Medicine.
Journal
ACS chemical biology
ISSN: 1554-8937
Titre abrégé: ACS Chem Biol
Pays: United States
ID NLM: 101282906
Informations de publication
Date de publication:
20 10 2023
20 10 2023
Historique:
pmc-release:
20
09
2024
medline:
23
10
2023
pubmed:
21
9
2023
entrez:
20
9
2023
Statut:
ppublish
Résumé
Cystic fibrosis (CF) is a lethal genetic disease caused by mutations in the chloride ion channel cystic fibrosis transmembrane conductance regulator (CFTR). Class-II mutants of CFTR lack intermolecular interactions important for CFTR structural stability and lead to misfolding. Misfolded CFTR is detected by a diverse suite of proteostasis factors that preferentially bind and route mutant CFTR toward premature degradation, resulting in reduced plasma membrane CFTR levels and impaired chloride ion conductance associated with CF. CF treatment has been vastly improved over the past decade by the availability of small molecules called
Identifiants
pubmed: 37730207
doi: 10.1021/acschembio.3c00310
pmc: PMC10595991
doi:
Substances chimiques
Cystic Fibrosis Transmembrane Conductance Regulator
126880-72-6
CFTR protein, human
0
Types de publication
Journal Article
Review
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2128-2143Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL122010
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM129261
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM080403
Pays : United States
Organisme : NHLBI NIH HHS
ID : F31 HL162483
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM133552
Pays : United States
Références
J Biol Chem. 2012 Dec 7;287(50):41939-54
pubmed: 23091061
Mol Biol Cell. 2009 Apr;20(7):1903-15
pubmed: 19176754
Cell. 2017 Mar 23;169(1):85-95.e8
pubmed: 28340353
Mol Biol Cell. 2005 Dec;16(12):5891-900
pubmed: 16207813
Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):E4427-36
pubmed: 24191035
J Biol Chem. 2006 May 5;281(18):12841-8
pubmed: 16527813
Int J Mol Sci. 2021 Dec 21;23(1):
pubmed: 35008443
FEBS J. 2009 Dec;276(23):7097-109
pubmed: 19878303
Cell Chem Biol. 2023 Jun 15;30(6):632-642.e5
pubmed: 37253358
Biochem J. 2002 Sep 15;366(Pt 3):797-806
pubmed: 12069690
J Biol Chem. 2021 Jan-Jun;296:100598
pubmed: 33781744
Int J Mol Sci. 2020 Jun 25;21(12):
pubmed: 32630527
J Gen Physiol. 2018 Apr 2;150(4):539-570
pubmed: 29581173
J Mol Biol. 2012 May 25;419(1-2):41-60
pubmed: 22406676
J Biol Chem. 2023 Oct;299(10):105242
pubmed: 37690692
Nature. 2005 Feb 24;433(7028):876-80
pubmed: 15729345
Science. 2010 Aug 13;329(5993):805-10
pubmed: 20595578
J Biol Chem. 2015 Sep 18;290(38):22862-78
pubmed: 26149808
EMBO J. 2004 Jan 28;23(2):282-93
pubmed: 14685259
Mol Biol Cell. 2008 Nov;19(11):4570-9
pubmed: 18716059
Nat Cell Biol. 2001 Jan;3(1):100-5
pubmed: 11146634
Sci Rep. 2017 Aug 9;7(1):7642
pubmed: 28794469
Nat Rev Mol Cell Biol. 2010 Aug;11(8):579-92
pubmed: 20651708
J Mol Biol. 2018 Sep 14;430(18 Pt A):2951-2973
pubmed: 29924966
Proc Natl Acad Sci U S A. 2010 Jun 22;107(25):11393-8
pubmed: 20534503
Mol Biol Cell. 2019 Jan 1;30(1):4-16
pubmed: 30403549
Nat Chem Biol. 2021 Sep;17(9):989-997
pubmed: 34341587
Science. 2015 Apr 24;348(6233):444-8
pubmed: 25908822
Mol Biol Cell. 2009 Sep;20(18):4059-69
pubmed: 19625452
J Cyst Fibros. 2019 Jan;18(1):22-34
pubmed: 29934203
Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18825-30
pubmed: 19846789
Biomolecules. 2022 Mar 18;12(3):
pubmed: 35327663
J Cell Biol. 2004 Dec 20;167(6):1075-85
pubmed: 15611333
Cell Physiol Biochem. 2012;30(5):1120-33
pubmed: 23178238
Mol Biol Cell. 2022 Jun 1;33(7):ar62
pubmed: 35389766
J Biol Chem. 2018 Aug 31;293(35):13682-13695
pubmed: 29986884
Cell. 1990 Nov 16;63(4):827-34
pubmed: 1699669
J Cyst Fibros. 2018 Sep;17(5):582-594
pubmed: 29936070
EMBO J. 2010 Jan 6;29(1):263-77
pubmed: 19927121
J Biol Chem. 2016 Jan 22;291(4):2004-2017
pubmed: 26627832
J Biol Chem. 2012 Aug 17;287(34):28480-94
pubmed: 22722932
Trends Cell Biol. 2019 Feb;29(2):164-177
pubmed: 30502916
Front Physiol. 2021 Oct 26;12:695767
pubmed: 34764878
Nat Commun. 2017 Aug 30;8(1):398
pubmed: 28855508
Science. 2022 Oct 21;378(6617):284-290
pubmed: 36264792
Nat Struct Mol Biol. 2005 Jan;12(1):17-25
pubmed: 15619635
Sci Rep. 2019 Jul 8;9(1):9808
pubmed: 31285458
Mol Biol Cell. 2011 Aug 15;22(16):2797-809
pubmed: 21697503
Cell. 2006 Aug 11;126(3):571-82
pubmed: 16901789
J Biol Chem. 1998 Jan 2;273(1):568-76
pubmed: 9417117
Mol Biol Cell. 2013 Jan;24(2):74-84
pubmed: 23155000
Mol Cell Biol. 2005 Jun;25(12):5242-52
pubmed: 15923638
Mol Biol Cell. 2021 Apr 1;32(7):538-553
pubmed: 33534640
Cell Mol Life Sci. 2023 Jan 7;80(1):33
pubmed: 36609925
Mol Biol Cell. 2016 Feb 1;27(3):424-33
pubmed: 26823392
J Mol Biol. 2021 Jun 25;433(13):166955
pubmed: 33771570
Cell. 2016 Dec 1;167(6):1586-1597.e9
pubmed: 27912062
J Gen Physiol. 2005 Jan;125(1):43-55
pubmed: 15596536
PLoS One. 2019 Aug 13;14(8):e0220984
pubmed: 31408507
ACS Chem Biol. 2014 Nov 21;9(11):2508-16
pubmed: 25148104
Cell. 2006 Nov 17;127(4):803-15
pubmed: 17110338
Int J Mol Sci. 2022 Feb 23;23(5):
pubmed: 35269585
Mol Biol Cell. 2004 Sep;15(9):4003-10
pubmed: 15215316
Chem Rev. 2019 May 8;119(9):5537-5606
pubmed: 30608666
Nat Rev Genet. 2015 Jan;16(1):45-56
pubmed: 25404111
J Biol Chem. 2006 Dec 1;281(48):36856-63
pubmed: 16954204
J Biol Chem. 2010 Nov 12;285(46):35825-35
pubmed: 20667826
Curr Biol. 2005 Jun 7;15(11):1058-64
pubmed: 15936278
J Mol Biol. 2009 Apr 17;387(5):1153-64
pubmed: 19236881
Gene. 2013 Jul 10;523(2):137-46
pubmed: 23578801
PLoS Biol. 2016 May 11;14(5):e1002462
pubmed: 27168400
Nat Commun. 2020 Aug 26;11(1):4258
pubmed: 32848127
FASEB J. 2013 Feb;27(2):536-45
pubmed: 23104983
J Mol Biol. 2010 Aug 13;401(2):194-210
pubmed: 20561529
Mol Biol Cell. 2009 Jan;20(2):685-98
pubmed: 19019984
Cell. 2012 Jan 20;148(1-2):150-63
pubmed: 22265408
Cell. 2012 Jan 20;148(1-2):164-74
pubmed: 22265409
Nat Med. 2018 Nov;24(11):1732-1742
pubmed: 30297908
Cell. 2022 Jan 6;185(1):158-168.e11
pubmed: 34995514
JCI Insight. 2016 Sep 8;1(14):
pubmed: 27660821
Cell. 1993 Jul 2;73(7):1251-4
pubmed: 7686820
Mol Cell. 2011 Mar 18;41(6):682-92
pubmed: 21419343
J Biol Chem. 1997 Oct 10;272(41):25421-4
pubmed: 9325249
Mol Syst Biol. 2022 Feb;18(2):e10629
pubmed: 35156780
PLoS One. 2015 Mar 23;10(3):e0119796
pubmed: 25799511
EMBO J. 1998 Dec 1;17(23):6879-87
pubmed: 9843494
Mol Biol Cell. 2010 Mar 15;21(6):871-84
pubmed: 20089831
Mol Cell. 2005 Oct 28;20(2):277-87
pubmed: 16246729
Science. 2019 Jun 21;364(6446):1184-1188
pubmed: 31221859
Genome Med. 2012 Dec 27;4(12):103
pubmed: 23270647
J Biol Chem. 2001 Sep 21;276(38):35368-74
pubmed: 11451954
Protein Sci. 2010 Oct;19(10):1917-31
pubmed: 20687133
Proc Natl Acad Sci U S A. 2018 Dec 11;115(50):12757-12762
pubmed: 30459277
J Biol Chem. 2002 Jun 21;277(25):23019-27
pubmed: 11950844
Sci Signal. 2019 Jan 01;12(562):
pubmed: 30600261
Cells. 2019 Apr 14;8(4):
pubmed: 31014000
Biochim Biophys Acta. 2008 Sep;1783(9):1585-94
pubmed: 18457676
J Gen Physiol. 2000 Sep;116(3):477-500
pubmed: 10962022
J Biol Chem. 2002 Aug 9;277(32):28948-58
pubmed: 12039948
Science. 1999 Oct 15;286(5439):544-8
pubmed: 10521352
JCI Insight. 2020 Sep 17;5(18):
pubmed: 32853178
Int J Mol Sci. 2022 Dec 19;23(24):
pubmed: 36555865
Mol Biol Cell. 2011 Feb 1;22(3):301-14
pubmed: 21148293
Int J Mol Sci. 2023 Feb 06;24(4):
pubmed: 36834620
FASEB J. 2008 Sep;22(9):3255-63
pubmed: 18556464
Proc Natl Acad Sci U S A. 2011 Nov 15;108(46):18843-8
pubmed: 21976485
Commun Biol. 2022 Apr 13;5(1):356
pubmed: 35418593
Cell Mol Life Sci. 2021 Dec;78(23):7813-7829
pubmed: 34714360
Cell Mol Life Sci. 2018 Dec;75(24):4495-4509
pubmed: 30066085
J Biol Chem. 2002 Oct 18;277(42):39507-14
pubmed: 12186867
PLoS One. 2013 Sep 18;8(9):e74347
pubmed: 24058550
Cancer Res. 2000 Dec 15;60(24):6818-21
pubmed: 11156371
J Biol Chem. 2005 Nov 18;280(46):38673-81
pubmed: 16169850
Nature. 2015 Dec 24;528(7583):510-6
pubmed: 26618866
Nat Chem Biol. 2013 Jul;9(7):444-54
pubmed: 23666117
PLoS One. 2012;7(5):e37682
pubmed: 22701530
J Biol Chem. 2009 Feb 13;284(7):4168-78
pubmed: 19098309
Cell Struct Funct. 2010;35(2):107-16
pubmed: 21150129
Chem Biol. 2013 Jul 25;20(7):943-55
pubmed: 23890012
J Biol Chem. 2012 Jun 1;287(23):19158-70
pubmed: 22505710
Mol Pharmacol. 2018 Jun;93(6):612-618
pubmed: 29618585
Cell Mol Life Sci. 2017 Jan;74(1):39-55
pubmed: 27699454
Sci Rep. 2020 Mar 6;10(1):4176
pubmed: 32144307
EMBO J. 1999 Mar 15;18(6):1492-505
pubmed: 10075921