333 related articles for article (PubMed ID: 19261879)
1. Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X.
Kang JQ; Shen W; Macdonald RL
J Neurosci; 2009 Mar; 29(9):2833-44. PubMed ID: 19261879
[TBL] [Abstract][Full Text] [Related]
2. Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.
Kang JQ; Shen W; Macdonald RL
Ann Neurol; 2013 Oct; 74(4):547-59. PubMed ID: 23720301
[TBL] [Abstract][Full Text] [Related]
3. Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.
Kang JQ; Macdonald RL
Trends Mol Med; 2009 Sep; 15(9):430-8. PubMed ID: 19717338
[TBL] [Abstract][Full Text] [Related]
4. The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit.
Tian M; Macdonald RL
J Neurosci; 2012 Apr; 32(17):5937-52. PubMed ID: 22539854
[TBL] [Abstract][Full Text] [Related]
5. The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression.
Kang JQ; Shen W; Macdonald RL
J Neurosci; 2009 Mar; 29(9):2845-56. PubMed ID: 19261880
[TBL] [Abstract][Full Text] [Related]
6. mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.
Macdonald RL; Kang JQ
Epilepsia; 2012 Dec; 53 Suppl 9(0 9):59-70. PubMed ID: 23216579
[TBL] [Abstract][Full Text] [Related]
7. The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through.
Huang X; Tian M; Hernandez CC; Hu N; Macdonald RL
Neurobiol Dis; 2012 Oct; 48(1):115-23. PubMed ID: 22750526
[TBL] [Abstract][Full Text] [Related]
8. Nonsense-mediated mRNA decay (NMD) silences the accumulation of aberrant trypsin proteinase inhibitor mRNA in Nicotiana attenuata.
Wu J; Kang JH; Hettenhausen C; Baldwin IT
Plant J; 2007 Aug; 51(4):693-706. PubMed ID: 17587303
[TBL] [Abstract][Full Text] [Related]
9. Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndrome.
Gong Q; Stump MR; Zhou Z
Gene; 2014 Apr; 539(2):190-7. PubMed ID: 24530480
[TBL] [Abstract][Full Text] [Related]
10. Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity.
Usuki F; Yamashita A; Shiraishi T; Shiga A; Onodera O; Higuchi I; Ohno S
Proc Natl Acad Sci U S A; 2013 Sep; 110(37):15037-42. PubMed ID: 23983263
[TBL] [Abstract][Full Text] [Related]
11. Transcripts expressed using a bicistronic vector pIREShyg2 are sensitized to nonsense-mediated mRNA decay.
Shikama Y; Hu H; Ohno M; Matsuoka I; Shichishima T; Kimura J
BMC Mol Biol; 2010 Jun; 11():42. PubMed ID: 20513249
[TBL] [Abstract][Full Text] [Related]
12. Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.
Ishii A; Kanaumi T; Sohda M; Misumi Y; Zhang B; Kakinuma N; Haga Y; Watanabe K; Takeda S; Okada M; Ueno S; Kaneko S; Takashima S; Hirose S
Epilepsy Res; 2014 Mar; 108(3):420-32. PubMed ID: 24480790
[TBL] [Abstract][Full Text] [Related]
13. Single-Molecule Imaging Uncovers Rules Governing Nonsense-Mediated mRNA Decay.
Hoek TA; Khuperkar D; Lindeboom RGH; Sonneveld S; Verhagen BMP; Boersma S; Vermeulen M; Tanenbaum ME
Mol Cell; 2019 Jul; 75(2):324-339.e11. PubMed ID: 31155380
[TBL] [Abstract][Full Text] [Related]
14. Identification and selective degradation of neopeptide-containing truncated mutant proteins in the tumors with high microsatellite instability.
Kim WK; Park M; Park M; Kim YJ; Shin N; Kim HK; You KT; Kim H
Clin Cancer Res; 2013 Jul; 19(13):3369-82. PubMed ID: 23674496
[TBL] [Abstract][Full Text] [Related]
15. [Nonsense-mediated mRNA decay (NMD)--on guard of mRNA quality].
Dzikiewicz A; Szweykowska-Kulińska Z
Postepy Biochem; 2006; 52(4):390-8. PubMed ID: 17536508
[TBL] [Abstract][Full Text] [Related]
16. Arginine CGA codons as a source of nonsense mutations: a possible role in multivariant gene expression, control of mRNA quality, and aging.
Romanov GA; Sukhoverov VS
Mol Genet Genomics; 2017 Oct; 292(5):1013-1026. PubMed ID: 28523359
[TBL] [Abstract][Full Text] [Related]
17. mRNAs containing NMD-competent premature termination codons are stabilized and translated under UPF1 depletion.
Kim WK; Yun S; Kwon Y; You KT; Shin N; Kim J; Kim H
Sci Rep; 2017 Nov; 7(1):15833. PubMed ID: 29158530
[TBL] [Abstract][Full Text] [Related]
18. Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumors.
You KT; Li LS; Kim NG; Kang HJ; Koh KH; Chwae YJ; Kim KM; Kim YK; Park SM; Jang SK; Kim H
PLoS Biol; 2007 May; 5(5):e109. PubMed ID: 17456004
[TBL] [Abstract][Full Text] [Related]
19. Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene?
Ware MD; DeSilva D; Sinilnikova OM; Stoppa-Lyonnet D; Tavtigian SV; Mazoyer S
Oncogene; 2006 Jan; 25(2):323-8. PubMed ID: 16170354
[TBL] [Abstract][Full Text] [Related]
20. [The NMD escape mechanism and its application in disease therapy].
Cheng MM; Cao YY
Yi Chuan; 2020 Apr; 42(4):354-362. PubMed ID: 32312704
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]