The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK

The BCKDH Kinase and Phosphatase Integrate BCAA and Lipid Metabolism via Regulation of ATP-Citrate Lyase

(2018) Phillip J. White et al.   Cell Metabolism

Cell-Autonomous Control of Neuronal Dendrite Expansion via the Fatty Acid Synthesis Regulator SREBP

(2017) Anna B. Ziegler et al.   Cell Reports

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort

(2016) Kyle J. Steinman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase

(2016) Andrea Braganza et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

(2016) Ariana Kariminejad et al.   JOURNAL OF HUMAN GENETICS

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation inUBE3B

(2015) Christeen Ramane J. Pedurupillay et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample

(2015) Emma Colvert et al.   JAMA Psychiatry

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

(2014) Lina Basel-Vanagaite et al.   HUMAN GENETICS

Inborn errors of purine metabolism: clinical update and therapies

(2014) Shanti Balasubramaniam et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

(2013) Elisabetta Flex et al.   JOURNAL OF MEDICAL GENETICS

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

(2012) Lina Basel-Vanagaite et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

(2012) G. Novarino et al.   SCIENCE

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

(2012) Maria H. Chahrour et al.   PLoS Genetics

Trends in the Prevalence of Developmental Disabilities in US Children, 1997-2008

(2011) C. A. Boyle et al.   PEDIATRICS

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

(2010) Catalina Betancur   BRAIN RESEARCH

Defining the Human Deubiquitinating Enzyme Interaction Landscape

(2009) Mathew E. Sowa et al.   CELL

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