| Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. | Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I. | 07/2/2022 |
| Circ_0057583 facilitates brain microvascular endothelial cell injury through modulating miR-204-5p/NR4A1 axis. | Circ_0057583 facilitates brain microvascular endothelial cell injury through modulating miR-204-5p/NR4A1 axis.
Wang X, Liu L, Zhang L, Guo J, Yu L, Li T. | 04/16/2022 |
| A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns. | A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.
Heide EC, Puk O, Biskup S, Krahn A, Rauf E, Kreilkamp BAK, Paulus W, Focke NK. | 03/5/2022 |
| HECW2-related disorder in four Japanese patients. | HECW2-related disorder in four Japanese patients.
Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. | 01/22/2022 |
| Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a. | 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. | 07/10/2021 |
| Ectopic expression of HECW2 causes the ubiquitination of HP1alpha and beta, thereby targeting them for proteasomal degradation. | E3 ubiquitin ligase HECW2 mediates the proteasomal degradation of HP1 isoforms.
Krishnamoorthy V, Khanna R, Parnaik VK. | 01/19/2019 |
| Results show that HECW2 interacts with two lamin A-binding proteins: proliferating cell nuclear antigen (PCNA), via a canonical PCNA-interacting protein (PIP) motif, and lamin B1. HECW2 mediates their ubiquitination and targets them for proteasomal degradation. | E3 ubiquitin ligase HECW2 targets PCNA and lamin B1.
Krishnamoorthy V, Khanna R, Parnaik VK. | 12/22/2018 |
| HECW2, a novel EC ubiquitin E3 ligase, plays a critical role in stabilizing endothelial cell-to-cell junctions by regulating AMOT-like 1 (AMOTL1) stability. | The endothelial E3 ligase HECW2 promotes endothelial cell junctions by increasing AMOTL1 protein stability via K63-linked ubiquitination.
Choi KS, Choi HJ, Lee JK, Im S, Zhang H, Jeong Y, Park JA, Lee IK, Kim YM, Kwon YG. | 12/2/2017 |
| HECW2 is an ubiquitin ligase that stabilises p73, a crucial mediator of neurodevelopment and neurogenesis. This study implicates pathogenic genetic variants in HECW2 as potential causes of neurodevelopmental disorders in humans. | 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., Free PMC Article | 11/25/2017 |
| This work lends further support to previously identified candidate gene HECW2 as a novel candidate gene in intellectual disability and epilepsy. In 39 patient-parent trios, 29 de novo mutations in coding sequence were identified. | 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., Free PMC Article | 08/26/2017 |
| Low HECW2 expression is associated with cervical cancer. | Novel functions and targets of miR-944 in human cervical cancer cells.
Xie H, Lee L, Scicluna P, Kavak E, Larsson C, Sandberg R, Lui WO., Free PMC Article | 02/28/2015 |
| NEDL2 is a novel substrate of APC/C-Cdh1 as cells exit mitosis and functions as a regulator of the metaphase to anaphase transition | The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition.
Lu L, Hu S, Wei R, Qiu X, Lu K, Fu Y, Li H, Xing G, Li D, Peng R, He F, Zhang L., Free PMC Article | 02/15/2014 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |