Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

(2015) Laura A. Jansen et al.   BRAIN

Proper Level of Cytosolic Disabled-1, Which Is Regulated by Dual Nuclear Translocation Pathways, Is Important for Cortical Neuronal Migration

(2015) Takao Honda et al.   CEREBRAL CORTEX

NEDD4: The founding member of a family of ubiquitin-protein ligases

(2015) Natasha Anne Boase et al.   GENE

NEDD4-2 (NEDD4L): The ubiquitin ligase for multiple membrane proteins

(2015) Pranay Goel et al.   GENE

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

(2015) Ghayda M Mirzaa et al.   LANCET NEUROLOGY

PI3K/mTORC2 regulates TGF-β/Activin signalling by modulating Smad2/3 activity via linker phosphorylation

(2015) Jason S. L. Yu et al.   Nature Communications

Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex

(2015) Uk Yeol Moon et al.   Cell Reports

Malformations of cortical development: clinical features and genetic causes

(2014) Renzo Guerrini et al.   LANCET NEUROLOGY

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

(2014) Michel Kielar et al.   NATURE NEUROSCIENCE

Ubiquitin E3 ligase Nedd4-1 acts as a downstream target of PI3K/PTEN-mTORC1 signaling to promote neurite growth

(2014) H.-E. Hsia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural Basis of the Activation and Degradation Mechanisms of the E3 Ubiquitin Ligase Nedd4L

(2014) Albert Escobedo et al.   STRUCTURE

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

(2013) Valerio Conti et al.   BRAIN

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

(2013) Karine Poirier et al.   NATURE GENETICS

A developmental and genetic classification for malformations of cortical development: update 2012

(2012) A. James Barkovich et al.   BRAIN

Filamin A Regulates Neural Progenitor Proliferation and Cortical Size through Wee1-Dependent Cdk1 Phosphorylation

(2012) G. Lian et al.   JOURNAL OF NEUROSCIENCE

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

Reelin Controls Neuronal Positioning by Promoting Cell-Matrix Adhesion via Inside-Out Activation of Integrin α5β1

(2012) Katsutoshi Sekine et al.   NEURON

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A

(2011) Aurelie Carabalona et al.   HUMAN MOLECULAR GENETICS

The Outermost Region of the Developing Cortical Plate Is Crucial for Both the Switch of the Radial Migration Mode and the Dab1-Dependent "Inside-Out" Lamination in the Neocortex

(2011) K. Sekine et al.   JOURNAL OF NEUROSCIENCE

Reelin Regulates Cadherin Function via Dab1/Rap1 to Control Neuronal Migration and Lamination in the Neocortex

(2011) Santos J. Franco et al.   NEURON

Calcium Activates Nedd4 E3 Ubiquitin Ligases by Releasing the C2 Domain-mediated Auto-inhibition

(2010) Jian Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A human polymorphism affects NEDD4L subcellular targeting by leading to two isoforms that contain or lack a C2 domain

(2009) Nicholas F Garrone et al.   BMC CELL BIOLOGY

Ubiquitin Ligase Nedd4L Targets Activated Smad2/3 to Limit TGF-β Signaling

(2009) Sheng Gao et al.   MOLECULAR CELL

Regulation of Nedd4-2 self-ubiquitination and stability by a PY motif located within its HECT-domain

(2008) M. Christine Bruce et al.   BIOCHEMICAL JOURNAL

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia

(2008) Russell J. Ferland et al.   HUMAN MOLECULAR GENETICS