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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. Among authors: panoutsopoulos a. Brain. 2019 Sep 1;142(9):2617-2630. doi: 10.1093/brain/awz198. Brain. 2019. PMID: 31327001 Free PMC article.
Beyond autophagy: a novel role for autism-linked Wdfy3 in brain mitophagy.
Napoli E, Song G, Panoutsopoulos A, Riyadh MA, Kaushik G, Halmai J, Levenson R, Zarbalis KS, Giulivi C. Napoli E, et al. Among authors: panoutsopoulos a. Sci Rep. 2018 Jul 27;8(1):11348. doi: 10.1038/s41598-018-29421-7. Sci Rep. 2018. PMID: 30054502 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. Among authors: panoutsopoulos aa. 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.
WDFY3 mutation alters laminar position and morphology of cortical neurons.
Schaaf ZA, Tat L, Cannizzaro N, Panoutsopoulos AA, Green R, Rülicke T, Hippenmeyer S, Zarbalis KS. Schaaf ZA, et al. Among authors: panoutsopoulos aa. Mol Autism. 2022 Jun 22;13(1):27. doi: 10.1186/s13229-022-00508-3. Mol Autism. 2022. PMID: 35733184 Free PMC article.
23 results