Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia
出版年份 2016 全文链接
标题
Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia
作者
关键词
-
出版物
NATURE GENETICS
Volume 48, Issue 11, Pages 1349-1358
出版商
Springer Nature
发表日期
2016-10-04
DOI
10.1038/ng.3676
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now