These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
11. Human Presenilin-1 delivered by AAV9 rescues impaired γ-secretase activity, memory deficits, and neurodegeneration in Montenegro P; Chen P; Kang J; Lee SH; Leone S; Shen J Proc Natl Acad Sci U S A; 2023 Oct; 120(42):e2306714120. PubMed ID: 37816062 [TBL] [Abstract][Full Text] [Related]
12. Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. De Jonghe C; Cruts M; Rogaeva EA; Tysoe C; Singleton A; Vanderstichele H; Meschino W; Dermaut B; Vanderhoeven I; Backhovens H; Vanmechelen E; Morris CM; Hardy J; Rubinsztein DC; St George-Hyslop PH; Van Broeckhoven C Hum Mol Genet; 1999 Aug; 8(8):1529-40. PubMed ID: 10401002 [TBL] [Abstract][Full Text] [Related]
17. Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss. Lee B; Kim YR; Kim SJ; Goh SH; Kim JH; Oh SK; Baek JI; Kim UK; Lee KY Hum Mutat; 2019 Aug; 40(8):1172-1180. PubMed ID: 31033086 [TBL] [Abstract][Full Text] [Related]
18. A Large Panel of Isogenic APP and PSEN1 Mutant Human iPSC Neurons Reveals Shared Endosomal Abnormalities Mediated by APP β-CTFs, Not Aβ. Kwart D; Gregg A; Scheckel C; Murphy EA; Paquet D; Duffield M; Fak J; Olsen O; Darnell RB; Tessier-Lavigne M Neuron; 2019 Oct; 104(2):256-270.e5. PubMed ID: 31416668 [TBL] [Abstract][Full Text] [Related]
19. Splicing-independent recruitment of U1 snRNP to a transcription unit in living cells. Spiluttini B; Gu B; Belagal P; Smirnova AS; Nguyen VT; Hébert C; Schmidt U; Bertrand E; Darzacq X; Bensaude O J Cell Sci; 2010 Jun; 123(Pt 12):2085-93. PubMed ID: 20519584 [TBL] [Abstract][Full Text] [Related]
20. Stem-loop 4 of U1 snRNA is essential for splicing and interacts with the U2 snRNP-specific SF3A1 protein during spliceosome assembly. Sharma S; Wongpalee SP; Vashisht A; Wohlschlegel JA; Black DL Genes Dev; 2014 Nov; 28(22):2518-31. PubMed ID: 25403181 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]