(Q37378038)

20 August 2017

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia (English)

1 reference

20 August 2017

Juliette Godin

33

0 references

Nadia Bahi-Buisson

Nadia Bahi-Buisson

37

0 references

Karine Poirier

Karine Poirier

14

0 references

Laurent Nguyen

Laurent Nguyen

32

0 references

Gabrielle Rudolf

Gabrielle Rudolf

18

0 references

David Keays

30

0 references

Renzo Guerrini

25

Renzo Guerrini

1 reference

20 August 2017

11

Annapurna Poduri

1 reference

20 August 2017

34

Usha Kini

1 reference

20 August 2017

Alistair T Pagnamenta

7

Alistair T Pagnamenta

1 reference

20 August 2017

Loïc Broix

1

1 reference

20 August 2017

Hélène Jagline

2

1 reference

20 August 2017

Ekaterina Ivanova

3

1 reference

20 August 2017

Stéphane Schmucker

4

1 reference

20 August 2017

Nathalie Drouot

5

1 reference

20 August 2017

Jill Clayton-Smith

6

1 reference

20 August 2017

Kay A Metcalfe

8

1 reference

20 August 2017

Bertrand Isidor

9

1 reference

20 August 2017

Ulrike Walther Louvier

10

1 reference

20 August 2017

Jenny C Taylor

12

1 reference

20 August 2017

Peggy Tilly

13

1 reference

20 August 2017

Yoann Saillour

15

1 reference

20 August 2017

Nicolas Lebrun

16

1 reference

20 August 2017

Tristan Stemmelen

17

1 reference

20 August 2017

Giuseppe Muraca

19

1 reference

20 August 2017

Benjamin Saintpierre

20

1 reference

20 August 2017

Adrienne Elmorjani

21

1 reference

20 August 2017

Deciphering Developmental Disorders study

22

1 reference

20 August 2017

Martin Moïse

23

1 reference

20 August 2017

Nathalie Bednarek Weirauch

24

1 reference

20 August 2017

Anne Boland

26

1 reference

20 August 2017

Robert Olaso

27

1 reference

20 August 2017

Cecile Masson

28

1 reference

20 August 2017

Ratna Tripathy

29

1 reference

20 August 2017

Cherif Beldjord

31

1 reference

20 August 2017

Patrick Nischké

35

1 reference

20 August 2017

Jean-François Deleuze

36

1 reference

20 August 2017

Izabela Sumara

38

1 reference

20 August 2017

Maria-Victoria Hinckelmann

39

1 reference

20 August 2017

Jamel Chelly

40

1 reference

20 August 2017

language of work or name

English

0 references

publication date

3 October 2016

1 reference

20 August 2017

1 reference

20 August 2017

48

1 reference

20 August 2017

11

1 reference

20 August 2017

1349-1358

1 reference

describes a project that uses

20 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5086093/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/ng.3676

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Structural basis of the activation and degradation mechanisms of the E3 ubiquitin ligase Nedd4L

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Malformations of cortical development: clinical features and genetic causes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Reelin controls neuronal positioning by promoting cell-matrix adhesion via inside-out activation of integrin α5β1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Filamin a regulates neural progenitor proliferation and cortical size through Wee1-dependent Cdk1 phosphorylation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Reelin regulates cadherin function via Dab1/Rap1 to control neuronal migration and lamination in the neocortex.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Calcium activates Nedd4 E3 ubiquitin ligases by releasing the C2 domain-mediated auto-inhibition

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Ubiquitin ligase Nedd4L targets activated Smad2/3 to limit TGF-beta signaling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Autoinhibition of the HECT-type ubiquitin ligase Smurf2 through its C2 domain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Human disorders of cortical development: from past to present

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Molecular mechanisms of human hypertension

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Structure of an E6AP-UbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascade

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

C2-domains, structure and function of a universal Ca2+-binding domain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Mash1 activates a cascade of bHLH regulators in olfactory neuron progenitors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Characterization of a novel protein-binding module--the WW domain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Identification of a set of genes with developmentally down-regulated expression in the mouse brain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Cortical development: View from neurological mutants two decades later

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Numbers, time and neocortical neuronogenesis: a general developmental and evolutionary model

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Impaired neuronal positioning and dendritogenesis in the neocortex after cell-autonomous Dab1 suppression.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5086093

3 December 2018

Identifiers

DOI

10.1038/NG.3676

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

27694961

1 reference