(Q36573914)

English

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.

scientific article published on 3 December 2015

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1. (English)

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Legius syndrome

1 reference

based on heuristic

inferred from title

Ludwine Messiaen

9

object named as

Ludwine Messiaen

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

author name string

Yasuko Hirata

1

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Hilde Brems

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Mayu Suzuki

3

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Mitsuhiro Kanamori

4

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Masahiro Okada

5

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Rimpei Morita

6

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Isabel Llano-Rivas

7

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Toyoyuki Ose

8

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Eric Legius

10

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Akihiko Yoshimura

11

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

language of work or name

0 references

publication date

3 December 2015

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Journal of Biological Chemistry

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

291

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

7

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

3124-3134

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

How good is automated protein docking?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

The RASopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Review and update of SPRED1 mutations causing Legius syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Legius syndrome in fourteen families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

SPRED 1 mutations in a neurofibromatosis clinic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Regulation of cytokine signaling by the SOCS and Spred family proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Getting a first clue about SPRED functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Spreds are essential for embryonic lymphangiogenesis by regulating vascular endothelial growth factor receptor 3 signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Spreds, inhibitors of the Ras/ERK signal transduction, are dysregulated in human hepatocellular carcinoma and linked to the malignant phenotype of tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

The Sprouty-related protein, Spred-1, localizes in a lipid raft/caveola and inhibits ERK activation in collaboration with caveolin-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

The Sprouty-related protein, Spred, inhibits cell motility, metastasis, and Rho-mediated actin reorganization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

CIS1 interacts with the Y532 of the prolactin receptor and suppresses prolactin-dependent STAT5 activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Molecular cloning of mammalian Spred-3 which suppresses tyrosine kinase-mediated Erk activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Identification of a dominant negative mutant of Sprouty that potentiates fibroblast growth factor- but not epidermal growth factor-induced ERK activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Spred is a Sprouty-related suppressor of Ras signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Mammalian sprouty-1 and -2 are membrane-anchored phosphoprotein inhibitors of growth factor signaling in endothelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Cytokine-inducible SH2 protein-3 (CIS3/SOCS3) inhibits Janus tyrosine kinase by binding through the N-terminal kinase inhibitory region as well as SH2 domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Structural analysis of the GAP-related domain from neurofibromin and its implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

30 September 2017

A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

28 June 2018

The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

28 June 2018

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

21 September 2018

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

21 September 2018

Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

21 September 2018

Sprouty4 deficiency potentiates Ras-independent angiogenic signals and tumor growth.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

21 September 2018

1.15 A crystal structure of the X. tropicalis Spred1 EVH1 domain suggests a fourth distinct peptide-binding mechanism within the EVH1 family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

21 September 2018

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4751360

21 September 2018

Structural differences in the minimal catalytic domains of the GTPase-activating proteins p120GAP and neurofibromin

1 reference

https://pubmed.ncbi.nlm.nih.gov/26635368

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An in vitro assay of beta-galactosidase from yeast

1 reference

https://pubmed.ncbi.nlm.nih.gov/26635368

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M115.703710

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

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