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Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe).
Ellwanger K, Brill JA, de Boer E, Efthymiou S, Elgersma Y, Icmat M, Lecoquierre F, Lobato AG, Morleo M, Ori M, Schaffer AE, Vitobello A, Wells S, Yalcin B, Zhai RG, Sturm M, Zurek B, Graessner H, Bermejo-Sánchez E, Evangelista T, Hoogerbrugge N, Nigro V, Schüle R, Verloes A, Brunner H, Campeau PM, Lasko P, Riess O. Ellwanger K, et al. Among authors: schaffer ae. Lab Anim (NY). 2024 Jul;53(7):161-165. doi: 10.1038/s41684-024-01395-2. Lab Anim (NY). 2024. PMID: 38914824 Free PMC article.
mRNA isoform balance in neuronal development and disease.
LaForce GR, Philippidou P, Schaffer AE. LaForce GR, et al. Among authors: schaffer ae. Wiley Interdiscip Rev RNA. 2023 May-Jun;14(3):e1762. doi: 10.1002/wrna.1762. Epub 2022 Sep 19. Wiley Interdiscip Rev RNA. 2023. PMID: 36123820 Free PMC article. Review.
The RNA-binding protein, ZC3H14, is required for proper poly(A) tail length control, expression of synaptic proteins, and brain function in mice.
Rha J, Jones SK, Fidler J, Banerjee A, Leung SW, Morris KJ, Wong JC, Inglis GAS, Shapiro L, Deng Q, Cutler AA, Hanif AM, Pardue MT, Schaffer A, Seyfried NT, Moberg KH, Bassell GJ, Escayg A, García PS, Corbett AH. Rha J, et al. Hum Mol Genet. 2017 Oct 1;26(19):3663-3681. doi: 10.1093/hmg/ddx248. Hum Mol Genet. 2017. PMID: 28666327 Free PMC article.
tRNA Metabolism and Neurodevelopmental Disorders.
Schaffer AE, Pinkard O, Coller JM. Schaffer AE, et al. Annu Rev Genomics Hum Genet. 2019 Aug 31;20:359-387. doi: 10.1146/annurev-genom-083118-015334. Epub 2019 May 13. Annu Rev Genomics Hum Genet. 2019. PMID: 31082281 Free PMC article. Review.
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Werren E, LaForce G, Srivastava A, Perillo D, Johnson K, Berger B, Regan S, Pfennig C, Baris S, de Munnik S, Pfundt R, Hebbar M, Jimenez Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles E, Louie R, Lebel R, Le TL, Amiel J, Gordon C, Boztug K, Girisha K, Shukla A, Bielas S, Schaffer A. Werren E, et al. Res Sq [Preprint]. 2023 Sep 6:rs.3.rs-2126145. doi: 10.21203/rs.3.rs-2126145/v1. Res Sq. 2023. Update in: Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y PMID: 37720017 Free PMC article. Updated. Preprint.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. Werren EA, et al. Among authors: schaffer ae. Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y. Nat Commun. 2024. PMID: 38388531 Free PMC article.
32 results