Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2016.139
Abstract: The ubiquitin-proteasome pathway is involved in the pathogenesis of several neurogenetic diseases. We describe a Mauritanian patient harboring a homozygous deletion restricted to two contiguous genes HERC2 and OCA2 and presenting with severe developmental abnormalities.… read more here.
Keywords: complete loss; ubiquitin ligase; herc2; function ... See more keywords
Mechanistic insights into the iron-sulfur cluster-dependent interaction of the autophagy receptor NCOA4 with the E3 ligase HERC2.
Sign Up to like & getrecommendations! Published in 2025 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2510269122
Abstract: NCOA4, a dedicated autophagy receptor for mediating selective autophagy of ferritin (ferritinophagy), plays a vital role in maintaining cellular iron homeostasis. The cellular abundance of NCOA4 is regulated by the E3 ligase HERC2 that can… read more here.
Keywords: iron; cluster; herc2; ncoa4 hbd ... See more keywords
Identification and bioinformatics analysis of a novel variant in the HERC2 gene in a patient with intellectual developmental disorder
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Neurogenetics"
DOI: 10.1080/01677063.2024.2365634
Abstract: Abstract HERC2-associated neurodevelopmental-disorders(NDD) encompass a cluster of medical conditions that arise from genetic mutations occurring within the HERC2 gene. These disorders can manifest a spectrum of symptoms that impact the brain and nervous system, including… read more here.
Keywords: developmental disorder; analysis; herc2; intellectual developmental ... See more keywords
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-106873
Abstract: Background The HERC2 gene encodes a 527 kDa E3 ubiquitin protein ligase that has key roles in cell cycle regulation, spindle formation during mitosis, mitochondrial functions and DNA damage responses. It has essential roles during embryonic… read more here.
Keywords: herc2 associated; herc2; function; paediatric lethality ... See more keywords
EHD1 promotes CP110 ubiquitination by centriolar satellite delivery of HERC2 to the mother centriole.
Sign Up to like & getrecommendations! Published in 2023 at "EMBO reports"
DOI: 10.15252/embr.202256317
Abstract: Primary cilia are sensory organelles that coordinate diverse signaling pathways, controlling development and homeostasis. Progression beyond the early steps of ciliogenesis requires the removal of a distal end protein, CP110, from the mother centriole, a… read more here.
Keywords: herc2; ciliogenesis; mother centriole; cp110 ubiquitination ... See more keywords
Association of Genetic Polymorphisms in SLC45A2, TYR, HERC2, and SLC24A in African Women with Melasma: A Pilot Study
Sign Up to like & getrecommendations! Published in 2025 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms26031158
Abstract: Melasma is a chronic skin disorder characterized by hyperpigmentation, predominantly affecting women with darker skin types, including those of African descent. This study investigates the association between genetic variants in SLC45A2, TYR, HERC2, and SLC24A5… read more here.
Keywords: herc2; tyr herc2; association genetic; genetic polymorphisms ... See more keywords