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
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