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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
Coste de Bagneaux P, von Elsner L, Bierhals T, Campiglio M, Johannsen J, Obermair GJ, Hempel M, Flucher BE, Kutsche K. Coste de Bagneaux P, et al. PLoS Genet. 2020 Mar 16;16(3):e1008625. doi: 10.1371/journal.pgen.1008625. eCollection 2020 Mar. PLoS Genet. 2020. PMID: 32176688 Free PMC article.
Mono- and Poly-unsaturated Phosphatidic Acid Regulate Distinct Steps of Regulated Exocytosis in Neuroendocrine Cells.
Tanguy E, Costé de Bagneaux P, Kassas N, Ammar MR, Wang Q, Haeberlé AM, Raherindratsara J, Fouillen L, Renard PY, Montero-Hadjadje M, Chasserot-Golaz S, Ory S, Gasman S, Bader MF, Vitale N. Tanguy E, et al. Among authors: coste de bagneaux p. Cell Rep. 2020 Aug 18;32(7):108026. doi: 10.1016/j.celrep.2020.108026. Cell Rep. 2020. PMID: 32814056 Free article.