HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability

(2013) Mala Isrie et al.   European Journal of Medical Genetics

Ubiquitin Ligase HUWE1 Regulates Axon Branching through the Wnt/β-Catenin Pathway in a Drosophila Model for Intellectual Disability

(2013) Joke Vandewalle et al.   PLoS One

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

(2012) Kyoko Takano et al.   HUMAN MOLECULAR GENETICS

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

(2012) C Nava et al.   Translational Psychiatry

Regulation of oxidative DNA damage repair by DNA polymerase   and MutYH by cross-talk of phosphorylation and ubiquitination

(2011) E. Markkanen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

X-linked mental retardation, growth retardation, deafness and micro-genitalism. A second familial report

(2010) J. F. Mattei et al.   CLINICAL GENETICS

E3 ubiquitin ligase Mule ubiquitinates Miz1 and is required for TNF -induced JNK activation

(2010) Y. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ubiquitin ligase ARF-BP1/Mule modulates base excision repair

(2009) Jason L Parsons et al.   EMBO JOURNAL

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

(2008) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Miz1 and HectH9 regulate the stability of the checkpoint protein, TopBP1

(2008) Steffi Herold et al.   EMBO JOURNAL