217 related articles for article (PubMed ID: 29701768)
1. Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
Donadon I; Pinotti M; Rajkowska K; Pianigiani G; Barbon E; Morini E; Motaln H; Rogelj B; Mingozzi F; Slaugenhaupt SA; Pagani F
Hum Mol Genet; 2018 Jul; 27(14):2466-2476. PubMed ID: 29701768
[TBL] [Abstract][Full Text] [Related]
2. Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA.
Romano G; Riccardi F; Bussani E; Vodret S; Licastro D; Ragone I; Ronzitti G; Morini E; Slaugenhaupt SA; Pagani F
Am J Hum Genet; 2022 Aug; 109(8):1534-1548. PubMed ID: 35905737
[TBL] [Abstract][Full Text] [Related]
3. ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
Morini E; Gao D; Montgomery CM; Salani M; Mazzasette C; Krussig TA; Swain B; Dietrich P; Narasimhan J; Gabbeta V; Dakka A; Hedrick J; Zhao X; Weetall M; Naryshkin NA; Wojtkiewicz GG; Ko CP; Talkowski ME; Dragatsis I; Slaugenhaupt SA
Am J Hum Genet; 2019 Apr; 104(4):638-650. PubMed ID: 30905397
[TBL] [Abstract][Full Text] [Related]
4. RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the
Ohe K; Yoshida M; Nakano-Kobayashi A; Hosokawa M; Sako Y; Sakuma M; Okuno Y; Usui T; Ninomiya K; Nojima T; Kataoka N; Hagiwara M
RNA; 2017 Sep; 23(9):1393-1403. PubMed ID: 28592461
[TBL] [Abstract][Full Text] [Related]
5. Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice.
Sinha R; Kim YJ; Nomakuchi T; Sahashi K; Hua Y; Rigo F; Bennett CF; Krainer AR
Nucleic Acids Res; 2018 Jun; 46(10):4833-4844. PubMed ID: 29672717
[TBL] [Abstract][Full Text] [Related]
6. Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.
Morini E; Dietrich P; Salani M; Downs HM; Wojtkiewicz GR; Alli S; Brenner A; Nilbratt M; LeClair JW; Oaklander AL; Slaugenhaupt SA; Dragatsis I
Hum Mol Genet; 2016 Mar; 25(6):1116-28. PubMed ID: 26769677
[TBL] [Abstract][Full Text] [Related]
7. Carnosol, a diterpene present in rosemary, increases ELP1 levels in familial dysautonomia patient-derived cells and healthy adults: a possible therapy for FD.
Anderson SL; Fasih-Ahmad F; Evans AJ; Rubin BY
Hum Mol Genet; 2022 Oct; 31(20):3521-3538. PubMed ID: 35708500
[TBL] [Abstract][Full Text] [Related]
8. Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure.
Riccardi F; Romano G; Licastro D; Pagani F
PLoS One; 2024; 19(6):e0298965. PubMed ID: 38829854
[TBL] [Abstract][Full Text] [Related]
9. Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia.
Salani M; Urbina F; Brenner A; Morini E; Shetty R; Gallagher CS; Law EA; Sunshine S; Finneran DJ; Johnson G; Minor L; Slaugenhaupt SA
SLAS Discov; 2019 Jan; 24(1):57-67. PubMed ID: 30085848
[TBL] [Abstract][Full Text] [Related]
10. Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.
Morini E; Chekuri A; Logan EM; Bolduc JM; Kirchner EG; Salani M; Krauson AJ; Narasimhan J; Gabbeta V; Grover S; Dakka A; Mollin A; Jung SP; Zhao X; Zhang N; Zhang S; Arnold M; Woll MG; Naryshkin NA; Weetall M; Slaugenhaupt SA
Am J Hum Genet; 2023 Mar; 110(3):531-547. PubMed ID: 36809767
[TBL] [Abstract][Full Text] [Related]
11. Rescue of common exon-skipping mutations in cystic fibrosis with modified U1 snRNAs.
Donegà S; Rogalska ME; Pianigiani G; Igreja S; Amaral MD; Pagani F
Hum Mutat; 2020 Dec; 41(12):2143-2154. PubMed ID: 32935393
[TBL] [Abstract][Full Text] [Related]
12. An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.
Fernandez Alanis E; Pinotti M; Dal Mas A; Balestra D; Cavallari N; Rogalska ME; Bernardi F; Pagani F
Hum Mol Genet; 2012 Jun; 21(11):2389-98. PubMed ID: 22362925
[TBL] [Abstract][Full Text] [Related]
13. Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.
Ajiro M; Awaya T; Kim YJ; Iida K; Denawa M; Tanaka N; Kurosawa R; Matsushima S; Shibata S; Sakamoto T; Studer L; Krainer AR; Hagiwara M
Nat Commun; 2021 Jul; 12(1):4507. PubMed ID: 34301951
[TBL] [Abstract][Full Text] [Related]
14. An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective
Balestra D; Ferrarese M; Lombardi S; Ziliotto N; Branchini A; Petersen N; Bosma P; Pinotti M; van de Graaf SFJ
Int J Mol Sci; 2020 Nov; 21(22):. PubMed ID: 33228018
[No Abstract] [Full Text] [Related]
15. Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.
Bruun GH; Bang JMV; Christensen LL; Brøner S; Petersen USS; Guerra B; Grønning AGB; Doktor TK; Andresen BS
Nucleic Acids Res; 2018 Sep; 46(15):7938-7952. PubMed ID: 29762696
[TBL] [Abstract][Full Text] [Related]
16. Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators.
Schultz A; Cheng SY; Kirchner E; Costello S; Miettinen H; Chaverra M; King C; George L; Zhao X; Narasimhan J; Weetall M; Slaugenhaupt S; Morini E; Punzo C; Lefcort F
Sci Rep; 2023 Oct; 13(1):18600. PubMed ID: 37903840
[TBL] [Abstract][Full Text] [Related]
17. Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia.
Yoshida M; Kataoka N; Miyauchi K; Ohe K; Iida K; Yoshida S; Nojima T; Okuno Y; Onogi H; Usui T; Takeuchi A; Hosoya T; Suzuki T; Hagiwara M
Proc Natl Acad Sci U S A; 2015 Mar; 112(9):2764-9. PubMed ID: 25675486
[TBL] [Abstract][Full Text] [Related]
18. Dimerization of elongator protein 1 is essential for Elongator complex assembly.
Xu H; Lin Z; Li F; Diao W; Dong C; Zhou H; Xie X; Wang Z; Shen Y; Long J
Proc Natl Acad Sci U S A; 2015 Aug; 112(34):10697-702. PubMed ID: 26261306
[TBL] [Abstract][Full Text] [Related]
19. Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia.
Ibrahim EC; Hims MM; Shomron N; Burge CB; Slaugenhaupt SA; Reed R
Hum Mutat; 2007 Jan; 28(1):41-53. PubMed ID: 16964593
[TBL] [Abstract][Full Text] [Related]
20. Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Harripaul R; Morini E; Salani M; Logan E; Kirchner E; Bolduc J; Chekuri A; Currall B; Yadav R; Erdin S; Talkowski ME; Gao D; Slaugenhaupt S
Sci Rep; 2024 Jan; 14(1):570. PubMed ID: 38177237
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
