Associated Papers
Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder.
Sala-Gaston J et al.
Cell Death Discovery, 2024
Regulation of MAPK Signaling Pathways by the Large HERC Ubiquitin Ligases.
Sala-Gaston J et al.
International Journal of Molecular Sciences, 2023
HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress.
Sala-Gaston J et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Delineating the expanding phenotype of HERC2-related disorders: The impact of biallelic loss of function versus missense variation.
Vincent KM et al.
Clinical Genetics, 2021
Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
Ueda K et al.
American Journal of Medical Genetics. Part A, 2021
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality.
Elpidorou M et al.
Journal of Medical Genetics, 2021
Regulation of the MDM2-p53 pathway by the ubiquitin ligase HERC2.
García-Cano J et al.
Molecular Oncology, 2020
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Proteomic investigations of human HERC2 mutants: Insights into the pathobiology of a neurodevelopmental disorder.
Abraham JR et al.
Biochemical and Biophysical Research Communications, 2019
Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice.
Suetterlin P et al.
Cerebral Cortex (new York, N.y. : 1991), 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination.
Cubillos-Rojas M et al.
Oncotarget, 2016
Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.
Morice-Picard F et al.
European Journal of Human Genetics : Ejhg, 2016
Contiguous mutation syndrome in the era of high-throughput sequencing.
Langouët M et al.
Molecular Genetics & Genomic Medicine, 2015
If not Angelman, what is it? A review of Angelman-like syndromes.
Tan WH et al.
American Journal of Medical Genetics. Part A, 2014
Transcriptome study of differential expression in schizophrenia.
Sanders AR et al.
Human Molecular Genetics, 2013
Mutation of HERC2 causes developmental delay with Angelman-like features.
Harlalka GV et al.
Journal of Medical Genetics, 2013
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
Puffenberger EG et al.
Human Mutation, 2012
Autism Spectrum Disorder - A Complex Genetic Disorder.
Ivanov HY et al.
Folia Medica, 0