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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R. Le Duc D, et al. Brain. 2019 Sep 1;142(9):2617-2630. doi: 10.1093/brain/awz198. Brain. 2019. PMID: 31327001 Free PMC article.
Wdfy3 regulates glycophagy, mitophagy, and synaptic plasticity.
Napoli E, Panoutsopoulos AA, Kysar P, Satriya N, Sterling K, Shibata B, Imai D, Ruskin DN, Zarbalis KS, Giulivi C. Napoli E, et al. J Cereb Blood Flow Metab. 2021 Dec;41(12):3213-3231. doi: 10.1177/0271678X211027384. Epub 2021 Jun 29. J Cereb Blood Flow Metab. 2021. PMID: 34187232 Free PMC article.