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Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.
Mori K, Arzberger T, Grässer FA, Gijselinck I, May S, Rentzsch K, Weng SM, Schludi MH, van der Zee J, Cruts M, Van Broeckhoven C, Kremmer E, Kretzschmar HA, Haass C, Edbauer D. Mori K, et al. Among authors: edbauer d. Acta Neuropathol. 2013 Dec;126(6):881-93. doi: 10.1007/s00401-013-1189-3. Epub 2013 Oct 17. Acta Neuropathol. 2013. PMID: 24132570
Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production.
Moehlmann T, Winkler E, Xia X, Edbauer D, Murrell J, Capell A, Kaether C, Zheng H, Ghetti B, Haass C, Steiner H. Moehlmann T, et al. Among authors: edbauer d. Proc Natl Acad Sci U S A. 2002 Jun 11;99(12):8025-30. doi: 10.1073/pnas.112686799. Epub 2002 Jun 4. Proc Natl Acad Sci U S A. 2002. PMID: 12048239 Free PMC article.
Reconstitution of gamma-secretase activity.
Edbauer D, Winkler E, Regula JT, Pesold B, Steiner H, Haass C. Edbauer D, et al. Nat Cell Biol. 2003 May;5(5):486-8. doi: 10.1038/ncb960. Nat Cell Biol. 2003. PMID: 12679784
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