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YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
Diaz J, Gérard X, Emerit MB, Areias J, Geny D, Dégardin J, Simonutti M, Guerquin MJ, Collin T, Viollet C, Billard JM, Métin C, Hubert L, Larti F, Kahrizi K, Jobling R, Agolini E, Shaheen R, Zigler A, Rouiller-Fabre V, Rozet JM, Picaud S, Novelli A, Alameer S, Najmabadi H, Cohn R, Munnich A, Barth M, Lugli L, Alkuraya FS, Blaser S, Gashlan M, Besmond C, Darmon M, Masson J. Diaz J, et al. Among authors: darmon m. Brain. 2020 Oct 1;143(10):2911-2928. doi: 10.1093/brain/awaa235. Brain. 2020. PMID: 33103737
GABAB receptor cell-surface export is controlled by an endoplasmic reticulum gatekeeper.
Doly S, Shirvani H, Gäta G, Meye FJ, Emerit MB, Enslen H, Achour L, Pardo-Lopez L, Yang SK, Armand V, Gardette R, Giros B, Gassmann M, Bettler B, Mameli M, Darmon M, Marullo S. Doly S, et al. Among authors: darmon m. Mol Psychiatry. 2016 Apr;21(4):480-90. doi: 10.1038/mp.2015.72. Epub 2015 Jun 2. Mol Psychiatry. 2016. PMID: 26033241 Free PMC article.
Protein interacting with Amyloid Precursor Protein tail-1 (PAT1) is involved in early endocytosis.
Dilsizoglu Senol A, Tagliafierro L, Gorisse-Hussonnois L, Rebeillard F, Huguet L, Geny D, Contremoulins V, Corlier F, Potier MC, Chasseigneaux S, Darmon M, Allinquant B. Dilsizoglu Senol A, et al. Among authors: darmon m. Cell Mol Life Sci. 2019 Dec;76(24):4995-5009. doi: 10.1007/s00018-019-03157-7. Epub 2019 May 28. Cell Mol Life Sci. 2019. PMID: 31139847
506 results