| 1 | HECW2, NDHSAL
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| Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a
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| Lu Q, Zhang MN, Shi XY, Zhang LQ, Wang YY, Liu LY, He W, Chen HM, He B, Zou LP.
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| Am J Med Genet A. Feb;185(2):377-383. doi: 10.1002/ajmg.a.61958. Epub 2020 Nov 18. 2021
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| 2 | HECW2, NDHSAL
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| De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
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| Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bönnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK.
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| J Med Genet. Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7. 2017
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| 3 | HECW2, NDHSAL
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| Mutations in HECW2 are associated with intellectual disability and epilepsy.
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| Halvardson J, Zhao JJ, Zaghlool A, Wentzel C, Georgii-Hemming P, Månsson E, Ederth Sävmarker H, Brandberg G, Soussi Zander C, Thuresson AC, Feuk L.
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| J Med Genet. Oct;53(10):697-704. doi: 10.1136/jmedgenet-2016-103814. Epub 2016 Jun 22. 2016
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| 4 | HECW2
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| Decreased expression of NEDL2 in Hirschsprung's disease
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| O'Donnell AM, Coyle D, Puri P.
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| J Pediatr Surg. Nov;51(11):1839-1842. doi: 10.1016/j.jpedsurg.2016.06.016. Epub 2016 Jul 5. 2016
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| 5 | AREL1, C12orf51, HACE1, HECTD1, HECW2, HERC4, RAD23B, RAD23BL, UBE3B, UBE3C, UBR5
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| Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.
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| Gong TW, Huang L, Warner SJ, Lomax MI.
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| Genomics 82(2):143-52. 2003
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| 6 | HECW2
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| A novel HECT-type E3 ubiquitin ligase, NEDL2, stabilizes p73 and enhances its transcriptional activity.
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| Miyazaki K, Ozaki T, Kato C, Hanamoto T, Fujita T, Irino S, Watanabe K, Nakagawa T, Nakagawara A.
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| Biochem Biophys Res Commun 308(1):106-13. 2003
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