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Year | Number of Results |
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2018 | 1 |
2021 | 1 |
2022 | 1 |
2024 | 1 |
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Page 1
Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.
Sci Transl Med. 2024 Feb 14;16(734):eadg7162. doi: 10.1126/scitranslmed.adg7162. Epub 2024 Feb 14.
Sci Transl Med. 2024.
PMID: 38277467
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P.
Brown AL, et al.
Nature. 2022 Mar;603(7899):131-137. doi: 10.1038/s41586-022-04436-3. Epub 2022 Feb 23.
Nature. 2022.
PMID: 35197628
Free PMC article.
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TDP-43 condensation properties specify its RNA-binding and regulatory repertoire.
Hallegger M, Chakrabarti AM, Lee FCY, Lee BL, Amalietti AG, Odeh HM, Copley KE, Rubien JD, Portz B, Kuret K, Huppertz I, Rau F, Patani R, Fawzi NL, Shorter J, Luscombe NM, Ule J.
Hallegger M, et al.
Cell. 2021 Sep 2;184(18):4680-4696.e22. doi: 10.1016/j.cell.2021.07.018. Epub 2021 Aug 10.
Cell. 2021.
PMID: 34380047
Free PMC article.
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Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A.
Fratta P, et al.
EMBO J. 2018 Jun 1;37(11):e98684. doi: 10.15252/embj.201798684. Epub 2018 May 15.
EMBO J. 2018.
PMID: 29764981
Free PMC article.
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