Citations for
1HECW2, NDHSAL
Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a
Lu Q, Zhang MN, Shi XY, Zhang LQ, Wang YY, Liu LY, He W, Chen HM, He B, Zou LP.
Am J Med Genet A. Feb;185(2):377-383. doi: 10.1002/ajmg.a.61958. Epub 2020 Nov 18. 2021
2HECW2, NDHSAL
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
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.
J Med Genet. Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7. 2017
3HECW2, NDHSAL
Mutations in HECW2 are associated with intellectual disability and epilepsy.
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.
J Med Genet. Oct;53(10):697-704. doi: 10.1136/jmedgenet-2016-103814. Epub 2016 Jun 22. 2016
4HECW2
Decreased expression of NEDL2 in Hirschsprung's disease
O'Donnell AM, Coyle D, Puri P.
J Pediatr Surg. Nov;51(11):1839-1842. doi: 10.1016/j.jpedsurg.2016.06.016. Epub 2016 Jul 5. 2016
5AREL1, C12orf51, HACE1, HECTD1, HECW2, HERC4, RAD23B, RAD23BL, UBE3B, UBE3C, UBR5
Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.
Gong TW, Huang L, Warner SJ, Lomax MI.
Genomics 82(2):143-52. 2003
6HECW2
A novel HECT-type E3 ubiquitin ligase, NEDL2, stabilizes p73 and enhances its transcriptional activity.
Miyazaki K, Ozaki T, Kato C, Hanamoto T, Fujita T, Irino S, Watanabe K, Nakagawa T, Nakagawara A.
Biochem Biophys Res Commun 308(1):106-13. 2003