Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.
Journal
Life science alliance
ISSN: 2575-1077
Titre abrégé: Life Sci Alliance
Pays: United States
ID NLM: 101728869
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
received:
10
02
2022
revised:
21
03
2022
accepted:
22
03
2022
entrez:
8
4
2022
pubmed:
9
4
2022
medline:
12
4
2022
Statut:
epublish
Résumé
Dysfunction of RNA-binding proteins is often linked to a wide range of human disease, particularly with neurological conditions. Gemin5 is a member of the survival of the motor neurons (SMN) complex, a ribosome-binding protein and a translation reprogramming factor. Recently, pathogenic mutations in
Identifiants
pubmed: 35393353
pii: 5/7/e202201403
doi: 10.26508/lsa.202201403
pmc: PMC8989681
pii:
doi:
Substances chimiques
GEMIN5 protein, human
0
RNA-Binding Proteins
0
SMN Complex Proteins
0
RNA
63231-63-0
Banques de données
GENBANK
['NM_015465.4', 'NM_015465.5']
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2022 Francisco-Velilla et al.
Références
RNA Biol. 2021 Oct 15;18(sup1):496-506
pubmed: 34424823
Development. 2004 Jan;131(1):25-36
pubmed: 14645129
Nat Rev Neurosci. 2009 Aug;10(8):597-609
pubmed: 19584893
Trends Biochem Sci. 2017 May;42(5):369-382
pubmed: 28268044
Genes Dev. 2016 Nov 1;30(21):2376-2390
pubmed: 27881600
Nucleic Acids Res. 2019 Jan 8;47(D1):D442-D450
pubmed: 30395289
Bioinformatics. 2005 Aug 15;21(16):3448-9
pubmed: 15972284
Nature. 2014 May 29;509(7502):575-81
pubmed: 24870542
Mol Cell. 2006 Jul 21;23(2):273-9
pubmed: 16857593
Nat Rev Genet. 2021 Mar;22(3):185-198
pubmed: 33235359
FEBS Lett. 2018 Apr;592(8):1400-1411
pubmed: 29537490
Mol Cell Proteomics. 2012 Apr;11(4):M111.010587
pubmed: 22186715
Bioessays. 2019 Apr;41(4):e1800241
pubmed: 30919488
Methods. 2015 Dec;91:3-12
pubmed: 26142759
Science. 2015 Jan 23;347(6220):1260419
pubmed: 25613900
Genes Dev. 2016 Nov 1;30(21):2391-2403
pubmed: 27881601
Genes Dev. 2002 Mar 15;16(6):720-8
pubmed: 11914277
J Biol Chem. 2015 Jun 19;290(25):15662-15669
pubmed: 25911097
Eur J Biochem. 1991 Mar 14;196(2):407-14
pubmed: 1706664
Sci Rep. 2018 Apr 3;8(1):5545
pubmed: 29615727
Cell. 2017 Jun 1;169(6):1051-1065.e18
pubmed: 28575669
Nucleic Acids Res. 2013 Jan;41(2):1255-72
pubmed: 23221635
Mol Cell. 2019 Apr 4;74(1):196-211.e11
pubmed: 30799147
Nucleic Acids Res. 2018 Aug 21;46(14):7339-7353
pubmed: 29771365
Mol Cell. 2014 May 8;54(3):407-417
pubmed: 24746697
Hum Mol Genet. 2013 Feb 15;22(4):668-84
pubmed: 23136128
Cold Spring Harb Perspect Biol. 2019 Nov 1;11(11):
pubmed: 30765414
Science. 2011 Feb 11;331(6018):730-6
pubmed: 21205638
Nat Struct Mol Biol. 2009 May;16(5):486-91
pubmed: 19377484
Nucleic Acids Res. 2009 Feb;37(2):582-90
pubmed: 19066202
Nucleic Acids Res. 2016 Sep 30;44(17):8335-51
pubmed: 27507887
Nat Protoc. 2008;3(6):1101-8
pubmed: 18546601
J Transl Med. 2021 Jul 3;19(1):287
pubmed: 34217309
Genome Res. 2003 Nov;13(11):2498-504
pubmed: 14597658
Nat Protoc. 2007;2(9):2212-21
pubmed: 17853878
Nat Commun. 2021 May 7;12(1):2558
pubmed: 33963192
Science. 2002 Nov 29;298(5599):1775-9
pubmed: 12459587
G3 (Bethesda). 2019 Feb 7;9(2):491-503
pubmed: 30563832
J Cell Biol. 2007 Mar 12;176(6):831-41
pubmed: 17353360
Nucleic Acids Res. 2014 May;42(9):5742-54
pubmed: 24598255
Cell Commun Signal. 2016 Apr 06;14:9
pubmed: 27048167
Cell Res. 2016 Dec;26(12):1353-1356
pubmed: 27834343
Nucleic Acids Res. 2020 Jan 24;48(2):788-801
pubmed: 31799608
Clin Genet. 2021 Dec;100(6):722-730
pubmed: 34569062
Nat Cell Biol. 2020 Oct;22(10):1239-1251
pubmed: 32958857
Anal Chem. 1996 Mar 1;68(5):850-8
pubmed: 8779443
FEBS J. 2021 Nov 18;:
pubmed: 34796614
Wiley Interdiscip Rev RNA. 2022 Jan;13(1):e1683
pubmed: 34327847
Nat Rev Mol Cell Biol. 2007 Jun;8(6):479-90
pubmed: 17473849
NPJ Regen Med. 2020 Mar 25;5:6
pubmed: 32218991
Front Cell Dev Biol. 2022 Feb 28;10:783762
pubmed: 35295849
Mol Cell. 2010 May 28;38(4):551-62
pubmed: 20513430
J Biol Chem. 2007 Feb 23;282(8):5825-33
pubmed: 17178713
J Proteome Res. 2021 Jun 4;20(6):3165-3178
pubmed: 33939924
J Biol Chem. 2007 Sep 21;282(38):27953-9
pubmed: 17640873
Nucleic Acids Res. 2017 Aug 21;45(14):8474-8483
pubmed: 28582530
PLoS One. 2015 Jun 22;10(6):e0130974
pubmed: 26098872