LATEST RESEARCH

WANT TO TAKE PART IN RESEARCH?

Current HUWE1 research taking participants:

Dr. Kristin Barañano at Johns Hopkins University Hospital, USA, is enrolling individuals in an ongoing study involving a structured clinical interview, to better understand HUWE1-related symptoms and to guide clinical management. She invites participation from individuals with HUWE1 from any country; note you will need to participate in a clinical interview in English. She can be reached at kwb@jhmi.edu. This is the most robust way of compiling symptoms and recommendations.
HUWE1 RARE-X Data Collection Program: parents, caregivers and individuals affected by HUWE1-gene variants can take part in self-report symptom surveys. Surveys are currently available in English; participants are invited to take part from around the world.
GENROC Study at the University of Bristol, UK: children aged 6 months to 16 years in the UK who have a confirmed HUWE1 genetic variant can take part in this NIH funded study of a range of neurodevelopmental conditions. You can also follow Genroc on Facebook.

Learn more about Louie's HUWE, the nonprofit for HUWE1, which also funds research projects to improve the lives of people with HUWE1-related conditions.

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).