LATEST RESEARCH
KEY RESEARCH PUBLICATIONS
Aprigliano et al (2021): Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities. See also article in Norwegian SciTechNews relating to this research here: Mini-brains reveal cause of rare syndromes
Giles and Grill (2020): Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease.
Moortgat et al (2017): HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Friez et al (2016): HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
Urbán et al (2016): Return to quiescence of mouse neural stem cells by degradation of a proactivation protein (full text available to download at Francis Crick Institute).
Isrie et al (2013): HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability (full text paid for but abstract and figures/pictures available).
Science Daily (2012): Too much protein HUWE1 causes intellectual disability.
Froyen et al (2008): Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation.
Turner et al (1994): X-linked mental retardation with heterozygous expression and macrocephaly: Pericentromeric gene localization. (full text available for paid download or academic institution access).