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    LATEST RESEARCH

     

    KEY RESEARCH PUBLICATIONS

    • 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.

    • 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).

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