A
Animals
Animals, Genetically Modified
Apoptosis
Cell Line
Disease Models, Animal
Drosophila Proteins
/ genetics
Drosophila melanogaster
/ embryology
Female
Gene Expression Regulation, Developmental
Genetic Predisposition to Disease
Heterozygote
Male
Morphogenesis
Mutation
Phenotype
Photoreceptor Cells, Vertebrate
/ metabolism
RNA Splicing Factors
/ genetics
Retinitis Pigmentosa
/ genetics
Apoptosis
Drosophila
Eye development
Prp8
Retinitis pigmentosa
Splicing factor
Journal
Disease models & mechanisms
ISSN: 1754-8411
Titre abrégé: Dis Model Mech
Pays: England
ID NLM: 101483332
Informations de publication
Date de publication:
26 06 2020
26 06 2020
Historique:
received:
01
11
2019
accepted:
04
05
2020
pubmed:
20
5
2020
medline:
24
8
2021
entrez:
20
5
2020
Statut:
epublish
Résumé
Retinitis pigmentosa (RP) represents genetically heterogeneous and clinically variable disease characterized by progressive degeneration of photoreceptors resulting in a gradual loss of vision. The autosomal dominant RP type 13 (RP13) has been linked to the malfunction of PRPF8, an essential component of the spliceosome. Over 20 different RP-associated
Identifiants
pubmed: 32424050
pii: dmm.043174
doi: 10.1242/dmm.043174
pmc: PMC7328144
pii:
doi:
Substances chimiques
Drosophila Proteins
0
Prp8 protein, Drosophila
0
RNA Splicing Factors
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIH HHS
ID : P40 OD010949
Pays : United States
Informations de copyright
© 2020. Published by The Company of Biologists Ltd.
Déclaration de conflit d'intérêts
Competing interestsThe authors declare no competing or financial interests.
Références
Mol Cell. 2007 Feb 23;25(4):615-24
pubmed: 17317632
Prog Retin Eye Res. 2018 Jan;62:24-37
pubmed: 28962928
Nat Rev Mol Cell Biol. 2009 Aug;10(8):550-63
pubmed: 19626045
EMBO J. 2019 May 2;38(9):
pubmed: 30988016
Dev Biol. 2006 Oct 15;298(2):555-70
pubmed: 16949568
PLoS One. 2011;6(7):e21800
pubmed: 21789182
Nat Rev Cancer. 2013 Mar;13(3):172-83
pubmed: 23388617
RNA Biol. 2017 May 4;14(5):544-552
pubmed: 27302685
Annu Rev Genet. 2005;39:153-71
pubmed: 16285856
RNA. 2016 May;22(5):793-809
pubmed: 26968627
Cell. 2014 Sep 25;159(1):200-214
pubmed: 25259927
Science. 2006 Dec 15;314(5806):1747-51
pubmed: 17138868
Genetics. 2004 Apr;166(4):1775-82
pubmed: 15126397
Proc Natl Acad Sci U S A. 2014 Jul 22;111(29):E2967-76
pubmed: 25002478
Cell Rep. 2019 Jun 4;27(10):3019-3033.e5
pubmed: 31167145
Mol Syst Biol. 2011 Oct 11;7:539
pubmed: 21988835
Hum Mutat. 2010 May;31(5):E1361-76
pubmed: 20232351
Nat Biotechnol. 2010 May;28(5):511-5
pubmed: 20436464
Dev Dyn. 2012 Jan;241(1):107-18
pubmed: 22038952
Nat Protoc. 2009;4(1):44-57
pubmed: 19131956
Dis Model Mech. 2015 Oct 1;8(10):1279-93
pubmed: 26398940
RNA. 2006 Feb;12(2):198-205
pubmed: 16373487
Nat Struct Mol Biol. 2009 Jan;16(1):42-8
pubmed: 19098916
EMBO J. 2006 Nov 15;25(22):5294-304
pubmed: 17082773
Development. 2018 Nov 12;145(22):
pubmed: 30333215
J Cell Biol. 2017 Jun 5;216(6):1579-1596
pubmed: 28515276
Nat Struct Mol Biol. 2008 Aug;15(8):819-26
pubmed: 18641664
G3 (Bethesda). 2014 Oct 15;4(12):2409-18
pubmed: 25324299
Nat Genet. 1998 Jul;19(3):257-9
pubmed: 9662398
Nat Struct Mol Biol. 2007 Nov;14(11):1077-83
pubmed: 17934474
Genomics. 1998 Aug 1;51(3):325-31
pubmed: 9721202
Cell. 2009 Feb 20;136(4):701-18
pubmed: 19239890
Genome Biol. 2010;11(10):R106
pubmed: 20979621
Hum Genet. 2019 Sep;138(8-9):973-991
pubmed: 30386938
Science. 2013 Jul 5;341(6141):80-4
pubmed: 23704370
PLoS One. 2017 Jan 11;12(1):e0170038
pubmed: 28076437
Cold Spring Harb Perspect Biol. 2011 Jul 01;3(7):
pubmed: 21441581
Trends Neurosci. 2001 May;24(5):251-4
pubmed: 11311363
Nat Rev Mol Cell Biol. 2014 Feb;15(2):108-21
pubmed: 24452469
Lancet. 2006 Nov 18;368(9549):1795-809
pubmed: 17113430
Nucleic Acids Res. 2009 Jan;37(1):1-13
pubmed: 19033363
Ophthalmic Genet. 2018 Jan-Feb;39(1):80-86
pubmed: 29087248
Science. 2012 May 4;336(6081):579-82
pubmed: 22556250
Methods Mol Biol. 2019;1834:221-249
pubmed: 30324448
Invest Ophthalmol Vis Sci. 2011 Jan 05;52(1):190-8
pubmed: 20811066
Sci Rep. 2017 Mar 21;7:44945
pubmed: 28322328
Science. 2003 Nov 14;302(5648):1227-31
pubmed: 14551319
Methods. 2001 Dec;25(4):402-8
pubmed: 11846609
RNA. 2005 May;11(5):533-57
pubmed: 15840809
Genome Res. 2012 Oct;22(10):2008-17
pubmed: 22722343
Development. 1993 Jun;118(2):401-15
pubmed: 8223268
Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3312-7
pubmed: 17360644
J Vis Exp. 2016 Oct 6;(116):
pubmed: 27768082
Genome Biol. 2013 Apr 25;14(4):R36
pubmed: 23618408
Cell. 2019 Dec 12;179(7):1551-1565.e17
pubmed: 31787377
FEBS Lett. 2013 Jul 11;587(14):2150-7
pubmed: 23714367
Dev Cell. 2008 Apr;14(4):481-93
pubmed: 18410726
Dev Cell. 2008 Jan;14(1):76-85
pubmed: 18194654
Nat Struct Mol Biol. 2008 May;15(5):444-51
pubmed: 18425143
Science. 2012 May 4;336(6081):582-5
pubmed: 22556251
Front Genet. 2015 Feb 25;6:69
pubmed: 25767478
Nucleic Acids Res. 2004 Mar 19;32(5):1792-7
pubmed: 15034147
Hum Mol Genet. 2016 Feb 15;25(4):651-9
pubmed: 26662796
PLoS Genet. 2014 Apr 10;10(4):e1004287
pubmed: 24722212