An "Omic" Overview of Fragile X Syndrome.
FMRP
RNA-binding protein
fragile X syndrome
genomic
metabolomic
physiopathology
proteomic
transcriptomic
Journal
Biology
ISSN: 2079-7737
Titre abrégé: Biology (Basel)
Pays: Switzerland
ID NLM: 101587988
Informations de publication
Date de publication:
13 May 2021
13 May 2021
Historique:
received:
24
03
2021
revised:
01
05
2021
accepted:
08
05
2021
entrez:
2
6
2021
pubmed:
3
6
2021
medline:
3
6
2021
Statut:
epublish
Résumé
Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with a wide range of cognitive, behavioral and medical problems. It arises from the silencing of the fragile X mental retardation 1 (FMR1) gene and, consequently, in the absence of its encoded protein, FMRP (fragile X mental retardation protein). FMRP is a ubiquitously expressed and multifunctional RNA-binding protein, primarily considered as a translational regulator. Pre-clinical studies of the past two decades have therefore focused on this function to relate FMRP's absence to the molecular mechanisms underlying FXS physiopathology. Based on these data, successful pharmacological strategies were developed to rescue fragile X phenotype in animal models. Unfortunately, these results did not translate into humans as clinical trials using same therapeutic approaches did not reach the expected outcomes. These failures highlight the need to put into perspective the different functions of FMRP in order to get a more comprehensive understanding of FXS pathophysiology. This work presents a review of FMRP's involvement on noteworthy molecular mechanisms that may ultimately contribute to various biochemical alterations composing the fragile X phenotype.
Identifiants
pubmed: 34068266
pii: biology10050433
doi: 10.3390/biology10050433
pmc: PMC8153138
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Références
Nature. 2012 Dec 20;492(7429):382-6
pubmed: 23235829
Nat Neurosci. 2013 Nov;16(11):1530-6
pubmed: 23584741
Am J Hum Genet. 1994 Aug;55(2):225-37
pubmed: 8037202
Sci Rep. 2016 May 23;6:26052
pubmed: 27212113
Nat Rev Mol Cell Biol. 2020 Apr;21(4):225-245
pubmed: 31848472
Neuropsychopharmacology. 2018 Feb;43(3):503-512
pubmed: 28816242
Neuron. 2015 Jul 15;87(2):382-98
pubmed: 26182420
Hum Mol Genet. 1996 Jan;5(1):95-102
pubmed: 8789445
Exp Cell Res. 2000 Jul 10;258(1):162-70
pubmed: 10912798
Sci Transl Med. 2012 Sep 19;4(152):152ra127
pubmed: 22993294
PLoS One. 2017 Apr 3;12(4):e0174853
pubmed: 28369077
Mol Brain. 2013 Apr 08;6:15
pubmed: 23566911
Nat Struct Mol Biol. 2010 Jun;17(6):732-9
pubmed: 20473314
J Dev Behav Pediatr. 2013 Apr;34(3):147-55
pubmed: 23572165
J Genet Genomics. 2016 Jan 20;43(1):11-24
pubmed: 26842990
Sci Rep. 2018 Nov 19;8(1):16970
pubmed: 30451888
Front Mol Neurosci. 2018 Mar 15;11:41
pubmed: 29599705
Neuron. 2015 Jul 1;87(1):14-27
pubmed: 26139367
Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1253-7
pubmed: 18452182
Pharmacogenomics J. 2016 Oct;16(5):411-29
pubmed: 27401223
Front Behav Neurosci. 2016 Jun 30;10:136
pubmed: 27445731
Dev Neurosci. 2011;33(5):395-403
pubmed: 22067669
Intractable Rare Dis Res. 2014 Nov;3(4):110-7
pubmed: 25606361
Dev Neurobiol. 2011 Nov;71(11):1040-53
pubmed: 21793226
BMC Neurol. 2010 Oct 11;10:91
pubmed: 20937127
Am J Med Genet A. 2014 Nov;164A(11):2834-42
pubmed: 25258112
Hum Mol Genet. 1997 Sep;6(9):1465-72
pubmed: 9285783
Neuron. 2012 Apr 12;74(1):49-56
pubmed: 22500629
Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 5;141B(6):666-8
pubmed: 16874769
J Cell Sci. 2011 Oct 1;124(Pt 19):3369-80
pubmed: 21896646
Cell. 2017 Sep 7;170(6):1209-1223.e20
pubmed: 28823556
J Neurosci. 2010 Jan 13;30(2):694-702
pubmed: 20071534
RNA. 2009 Mar;15(3):362-6
pubmed: 19155329
Neuroscience. 2013 Aug 29;246:186-98
pubmed: 23660195
Sci Transl Med. 2012 Sep 19;4(152):152ra128
pubmed: 22993295
Pediatr Res. 1995 Nov;38(5):638-43
pubmed: 8552427
Nat Med. 2017 Jun;23(6):674-677
pubmed: 28504725
J Neurosci. 2010 Nov 17;30(46):15616-27
pubmed: 21084617
Future Med Chem. 2015;7(13):1771-92
pubmed: 26399457
Genes Brain Behav. 2012 Apr;11(3):332-41
pubmed: 22268788
Cell Rep. 2020 Mar 31;30(13):4459-4472.e6
pubmed: 32234480
Front Mol Neurosci. 2018 May 23;11:163
pubmed: 29875629
J Psychiatr Res. 2014 Dec;59:220-8
pubmed: 25300441
J Biomed Biotechnol. 2006;2006(4):64347
pubmed: 17057366
Nat Neurosci. 2004 Feb;7(2):113-7
pubmed: 14703574
Cell. 2001 Nov 16;107(4):489-99
pubmed: 11719189
Neurobiol Dis. 2020 Sep;143:104978
pubmed: 32569795
Hum Mol Genet. 2018 Jun 15;27(12):2039-2051
pubmed: 29590342
Ann Neurol. 1992 Jan;31(1):22-6
pubmed: 1371909
Cell. 2014 Sep 25;159(1):218-218.e1
pubmed: 25259928
Hum Mol Genet. 2015 Nov 1;24(21):5977-84
pubmed: 26243794
Nat Genet. 1993 Jan;3(1):36-43
pubmed: 8490651
J Neuroinflammation. 2014 Jun 19;11:110
pubmed: 24942544
AIMS Neurosci. 2019 Oct 29;6(4):273-281
pubmed: 32341983
PLoS One. 2007 Sep 26;2(9):e931
pubmed: 17895972
Neuron. 2007 Dec 20;56(6):955-62
pubmed: 18093519
Mol Metab. 2019 Mar;21:22-35
pubmed: 30686771
J Med Genet. 2003 May;40(5):377-9
pubmed: 12746404
Neuron. 2015 Aug 19;87(4):699-715
pubmed: 26291156
Front Mol Biosci. 2018 Dec 11;5:113
pubmed: 30619879
Proc Natl Acad Sci U S A. 2008 Dec 9;105(49):19520-5
pubmed: 19047646
Curr Opin Neurobiol. 2019 Dec;59:59-68
pubmed: 31146125
Neuron. 2012 Oct 18;76(2):325-37
pubmed: 23083736
J Neurosci Res. 1998 Jan 1;51(1):41-8
pubmed: 9452307
J Neurodev Disord. 2017 Aug 2;9(1):26
pubmed: 28764646
Pediatrics. 2014 Nov;134(5):995-1005
pubmed: 25287458
Protein Cell. 2014 Dec;5(12):885-8
pubmed: 25327144
Methods Mol Biol. 2017;1509:1-10
pubmed: 27826912
Nucleic Acids Res. 2008 Sep;36(15):4902-12
pubmed: 18653529
Cell. 1991 Aug 23;66(4):817-22
pubmed: 1878973
Genes Dev. 2005 Apr 15;19(8):903-18
pubmed: 15805463
J Neurodev Disord. 2017 Jun 12;9:3
pubmed: 28616094
Genome Res. 2015 Nov;25(11):1692-702
pubmed: 26294687
Am J Med Genet A. 2015 Feb;167A(2):379-84
pubmed: 25424470
J Dev Behav Pediatr. 2013 Sep;34(7):508-22
pubmed: 24042082
PLoS One. 2019 May 21;14(5):e0217275
pubmed: 31112584
Neuron. 2013 Jan 23;77(2):243-50
pubmed: 23352161
Neuropharmacology. 2015 Jan;88:48-54
pubmed: 25016041
Brain Res. 2011 Mar 22;1380:264-70
pubmed: 21059347
Ital J Pediatr. 2017 Apr 19;43(1):39
pubmed: 28420439
Behav Brain Res. 2012 Apr 1;229(1):244-9
pubmed: 22285772
PLoS Biol. 2007 Mar;5(3):e52
pubmed: 17298186
Biochimie. 2015 Jul;114:147-54
pubmed: 25701550
Nucleic Acids Res. 2001 Jun 1;29(11):2276-83
pubmed: 11376146
PLoS One. 2017 Mar 23;12(3):e0174301
pubmed: 28334053
PLoS Biol. 2009 Jan 20;7(1):e16
pubmed: 19166269
Brain Res. 2009 Feb 9;1253:176-83
pubmed: 19070606
PLoS Genet. 2013 Oct;9(10):e1003890
pubmed: 24204304
J Physiol. 2008 Mar 15;586(6):1503-8
pubmed: 18202092
Mol Endocrinol. 2000 Sep;14(9):1317-27
pubmed: 10976911
BMC Neurol. 2020 Apr 15;20(1):138
pubmed: 32295518
J Med Genet. 2009 Feb;46(2):94-102
pubmed: 18835858
Psychopharmacology (Berl). 2013 Jul;228(1):75-84
pubmed: 23436129
J Child Neurol. 2006 Jun;21(6):444-9
pubmed: 16948926
J Cell Sci. 2015 Jun 1;128(11):2070-84
pubmed: 25908854
Oncogene. 2007 May 14;26(22):3122-42
pubmed: 17496911
Eur J Hum Genet. 2014 Oct;22(10):1185-9
pubmed: 24448548
Nat Neurosci. 2011 Oct 30;14(12):1517-24
pubmed: 22037499
J Cereb Blood Flow Metab. 2013 Apr;33(4):499-507
pubmed: 23299245
Genes Dev. 2004 Jul 15;18(14):1655-66
pubmed: 15231716
Trends Neurosci. 2004 Jul;27(7):370-7
pubmed: 15219735
Hum Mutat. 2014 Dec;35(12):1485-94
pubmed: 25224527
Cereb Cortex. 2019 Jul 22;29(8):3241-3252
pubmed: 30137253
Int J Neuropsychopharmacol. 2015 Mar 28;18(9):
pubmed: 25820841
Neuroreport. 2017 Dec 13;28(18):1246-1249
pubmed: 28915148
Colomb Med (Cali). 2014 Dec 30;45(4):190-8
pubmed: 25767309
Mol Diagn Ther. 2016 Dec;20(6):509-518
pubmed: 27378479
Physiol Rev. 2018 Jan 1;98(1):477-504
pubmed: 29351513
J Endocrinol. 2020 Sep;246(3):R51-R64
pubmed: 32485681
Mol Autism. 2015 Dec 21;6:66
pubmed: 26697163
Brain Behav Immun. 2010 Aug;24(6):898-902
pubmed: 20102735
In Vivo. 2008 May-Jun;22(3):305-9
pubmed: 18610740
Sci Transl Med. 2020 May 20;12(544):
pubmed: 32434848
Adv Exp Med Biol. 2016;886:51-77
pubmed: 26659487
J Neurosci. 2014 Jul 23;34(30):9867-79
pubmed: 25057190
Am J Hum Genet. 2018 Dec 6;103(6):829-857
pubmed: 30526865
Mol Cell. 2011 Jun 10;42(5):673-88
pubmed: 21658607
J Neurosci. 2007 Dec 19;27(51):13958-67
pubmed: 18094233
Clin Genet. 2012 Nov;82(5):472-7
pubmed: 21992468
CNS Neurosci Ther. 2018 Jul;24(7):586-597
pubmed: 29529357
Am J Med Genet. 1993 Jan 1;45(1):81-7
pubmed: 8380312
J Neurophysiol. 2008 Nov;100(5):2615-26
pubmed: 18784272
Cell Rep. 2014 Dec 11;9(5):1729-1741
pubmed: 25464849
Curr Pediatr Rev. 2019;15(4):251-258
pubmed: 31241016
Cell. 2014 May 8;157(4):869-81
pubmed: 24813610
Sci Transl Med. 2011 Jan 5;3(64):64ra1
pubmed: 21209411
Nutr Res. 2010 Apr;30(4):255-60
pubmed: 20534328
Neuron. 2010 Feb 11;65(3):373-84
pubmed: 20159450
J Med Genet. 2009 Apr;46(4):266-71
pubmed: 19126569
Neuropsychiatr Dis Treat. 2014 Sep 16;10:1769-79
pubmed: 25258535
J Lipid Res. 2004 Aug;45(8):1375-97
pubmed: 15254070
Neurosci Biobehav Rev. 2008 Oct;32(8):1533-43
pubmed: 18601949
Genome Res. 2011 Dec;21(12):2190-202
pubmed: 21900387
J Neurosci. 2005 May 18;25(20):5087-95
pubmed: 15901791
Cell. 2005 Jan 14;120(1):15-20
pubmed: 15652477
Genes Dev. 2002 Oct 1;16(19):2491-6
pubmed: 12368260
PLoS One. 2019 Dec 31;14(12):e0226811
pubmed: 31891607
Proc Natl Acad Sci U S A. 2010 May 18;107(20):9335-9
pubmed: 20439717
EMBO Rep. 2014 Oct;15(10):1036-52
pubmed: 25223281
J Am Acad Child Adolesc Psychiatry. 2003 Mar;42(3):372-5
pubmed: 12595792
PLoS One. 2011;6(10):e26549
pubmed: 22046307
Ann Hum Genet. 2012 Mar;76(2):178-91
pubmed: 22188182
Front Mol Neurosci. 2018 Oct 02;11:353
pubmed: 30333723
Front Cell Neurosci. 2015 Jul 29;9:280
pubmed: 26283917
Neuroscience. 2017 May 4;349:64-75
pubmed: 28257890
PLoS Genet. 2015 Dec 04;11(12):e1005702
pubmed: 26637167
J Neurosci. 1997 Mar 1;17(5):1539-47
pubmed: 9030614
Nat Rev Mol Cell Biol. 2018 Mar;19(3):192-206
pubmed: 29018282
Front Genet. 2018 Sep 18;9:349
pubmed: 30279698
Cell. 2011 Jul 22;146(2):247-61
pubmed: 21784246
Neuroimage. 2011 Jan 1;54(1):16-24
pubmed: 20708694
Cell. 1994 Apr 8;77(1):33-9
pubmed: 8156595
Cells. 2020 Jan 24;9(2):
pubmed: 31991700
J Neurochem. 2012 May;121(4):672-9
pubmed: 22393900
Neurobiol Dis. 2008 Jul;31(1):127-32
pubmed: 18571098
Arterioscler Thromb Vasc Biol. 2019 Oct;39(10):1996-2013
pubmed: 31553664
Sci Rep. 2017 Nov 7;7(1):14653
pubmed: 29116166
Am J Med Genet. 1994 Jul 15;51(4):509-12
pubmed: 7943031
J Neurosci. 2013 Nov 13;33(46):18234-41
pubmed: 24227732
Am J Med Genet A. 2013 Aug;161A(8):1897-903
pubmed: 23824974
Dev Neurobiol. 2011 Nov;71(11):956-81
pubmed: 21834084
Intractable Rare Dis Res. 2016 Aug;5(3):145-57
pubmed: 27672537
Transl Psychiatry. 2019 Nov 20;9(1):312
pubmed: 31748507
J Psychiatr Res. 2018 Dec;107:138-144
pubmed: 30408626
Nat Commun. 2019 Apr 12;10(1):1710
pubmed: 30979884
Biomarkers. 2016 Sep;21(6):497-508
pubmed: 27058300
Autism Res. 2019 Dec;12(12):1860-1869
pubmed: 31385649
Neuroscience. 2013 Oct 22;251:120-8
pubmed: 22522472
Genome Res. 2015 Nov;25(11):1771-80
pubmed: 26294686
Hum Mol Genet. 2001 Feb 15;10(4):329-38
pubmed: 11157796
Neuroscientist. 2012 Jun;18(3):216-23
pubmed: 21908849
J Cell Sci. 2005 Dec 15;118(Pt 24):5675-8
pubmed: 16339964
J Neurosci. 2006 Feb 15;26(7):1923-34
pubmed: 16481424
Front Cell Dev Biol. 2016 Jun 08;4:53
pubmed: 27376062
Brain Plast. 2018 Aug 10;3(2):205-223
pubmed: 30151344
Eur J Paediatr Neurol. 2020 Jan;24:100-104
pubmed: 31926845
RNA Biol. 2017 Nov 2;14(11):1580-1591
pubmed: 28640668
Neuron. 2006 Aug 17;51(4):441-54
pubmed: 16908410
Front Integr Neurosci. 2019 Sep 03;13:49
pubmed: 31551722
J Neurosci. 2014 Aug 13;34(33):11159-72
pubmed: 25122912
Front Genet. 2014 Sep 17;5:318
pubmed: 25278957
Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):295-300
pubmed: 23042585
Eur J Neurol. 2020 Mar;27(3):590-593
pubmed: 31953887
Nat Rev Mol Cell Biol. 2002 Sep;3(9):710-8
pubmed: 12209131
Cell. 1991 May 31;65(5):905-14
pubmed: 1710175
Stem Cell Reports. 2015 Jan 13;4(1):37-46
pubmed: 25483109
PLoS One. 2011;6(6):e20405
pubmed: 21731612
J Neurosci. 2010 Aug 11;30(32):10624-38
pubmed: 20702695
Nat Neurosci. 2008 Oct;11(10):1143-5
pubmed: 18776892
Mol Cancer. 2018 Nov 22;17(1):164
pubmed: 30466442