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Adaptation to chronic ER stress enforces pancreatic β-cell plasticity.
Chen CW, Guan BJ, Alzahrani MR, Gao Z, Gao L, Bracey S, Wu J, Mbow CA, Jobava R, Haataja L, Zalavadia AH, Schaffer AE, Lee H, LaFramboise T, Bederman I, Arvan P, Mathews CE, Gerling IC, Kaestner KH, Tirosh B, Engin F, Hatzoglou M. Chen CW, et al. Among authors: schaffer ae. Nat Commun. 2022 Aug 8;13(1):4621. doi: 10.1038/s41467-022-32425-7. Nat Commun. 2022. PMID: 35941159 Free PMC article.
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.
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. Schaffer AE, et al. Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16. Nat Genet. 2018. PMID: 30013181 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.
30 results