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Page 1
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
AlAbdi L, Desbois M, Rusnac DV, Sulaiman RA, Rosenfeld JA, Lalani S, Murdock DR, Burrage LC; Undiagnosed Diseases Network; Billie Au PY, Towner S, Wilson WG, Wong L, Brunet T, Strobl-Wildemann G, Burton JE, Hoganson G, McWalter K, Begtrup A, Zarate YA, Christensen EL, Opperman KJ, Giles AC, Helaby R, Kania A, Zheng N, Grill B, Alkuraya FS. AlAbdi L, et al. Brain. 2023 Apr 19;146(4):1373-1387. doi: 10.1093/brain/awac364. Brain. 2023. PMID: 36200388 Free PMC article.
Autophagy in axonal and presynaptic development.
Crawley O, Grill B. Crawley O, et al. Curr Opin Neurobiol. 2021 Aug;69:139-148. doi: 10.1016/j.conb.2021.03.011. Epub 2021 Apr 30. Curr Opin Neurobiol. 2021. PMID: 33940492 Free PMC article. Review.
Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.
Amezquita J, Desbois M, Opperman KJ, Pak JS, Christensen EL, Nguyen NT, Diaz-Garcia K, Borgen MA, Grill B. Amezquita J, et al. bioRxiv [Preprint]. 2023 Nov 15:2023.11.15.566604. doi: 10.1101/2023.11.15.566604. bioRxiv. 2023. Update in: PLoS Genet. 2024 Dec 13;20(12):e1011496. doi: 10.1371/journal.pgen.1011496 PMID: 38014183 Free PMC article. Updated. Preprint.
30 results