Signaling pathways and the cerebral cavernous malformations proteins: lessons from structural biology. (Q37722299)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24287896%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

Signaling pathways and the cerebral cavernous malformations proteins: lessons from structural biology (English)

1 reference

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2 March 2020

1 reference

1

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2 March 2020

2

Titus J Boggon

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2 March 2020

publication date

29 November 2013

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Cellular and Molecular Life Sciences

2 March 2020

published in

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2 March 2020

volume

71

1 reference

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2 March 2020

issue

10

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2 March 2020

page(s)

1881-1892

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https://scigraph.springernature.com/pub.10.1007/s00018-013-1532-9

2 March 2020

exact match

0 references

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations

23 August 2017

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Sorting nexin 17, a non-self-assembling and a PtdIns(3)P high class affinity protein, interacts with the cerebral cavernous malformation related protein KRIT1

23 August 2017

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Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.

23 August 2017

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Genetics of cerebral cavernous malformations

23 August 2017

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CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis

23 August 2017

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Nuclear translocation of integrin cytoplasmic domain-associated protein 1 stimulates cellular proliferation.

23 August 2017

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Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations

23 August 2017

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YSK1 is activated by the Golgi matrix protein GM130 and plays a role in cell migration through its substrate 14-3-3zeta

23 August 2017

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Mutations within the MGC4607 gene cause cerebral cavernous malformations

23 August 2017

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Rac-MEKK3-MKK3 scaffolding for p38 MAPK activation during hyperosmotic shock.

23 August 2017

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Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations

23 August 2017

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Disruption of focal adhesions by integrin cytoplasmic domain-associated protein-1 alpha

23 August 2017

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KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein

23 August 2017

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KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis

23 August 2017

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Molecular basis for interaction between Icap1 alpha PTB domain and beta 1 integrin

23 August 2017

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Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation

23 August 2017

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Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1

23 August 2017

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Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene

23 August 2017

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Cloning of the murine Krit1 cDNA reveals novel mammalian 5' coding exons

23 August 2017

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Structural basis of the membrane-targeting and unmasking mechanisms of the radixin FERM domain

23 August 2017

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Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)

23 August 2017

1 reference

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Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

23 August 2017

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Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22

23 August 2017

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ICAP-1, a novel beta1 integrin cytoplasmic domain-associated protein, binds to a conserved and functionally important NPXY sequence motif of beta1 integrin

23 August 2017

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The MutT proteins or "Nudix" hydrolases, a family of versatile, widely distributed, "housecleaning" enzymes

23 August 2017

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A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans

23 August 2017

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Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21

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Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Cerebral cavernous malformations: from genes to proteins to disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Ccm1 regulates microvascular morphogenesis during angiogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Cerebral cavernous malformations as a disease of vascular permeability: from bench to bedside with caution

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

The pathogenetic features of cerebral cavernous malformations: a comprehensive review with therapeutic implications

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein 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=3999170

CCM2 mediates death signaling by the TrkA receptor tyrosine kinase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Cerebral cavernous malformation 2 protein promotes smad ubiquitin regulatory factor 1-mediated RhoA degradation in endothelial cells

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Cell adhesion: a FERM grasp of the tail sorts out integrins

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Interaction of the integrin beta1 cytoplasmic domain with ICAP-1 protein

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Focal defects in single-celled tubes mutant for Cerebral cavernous malformation 3, GCKIII, or NSF2.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Calcium and calmodulin-dependent serine/threonine protein kinase type II (CaMKII)-mediated intramolecular opening of integrin cytoplasmic domain-associated protein-1 (ICAP-1α) negatively regulates β1 integrins.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Tissue-specific conditional CCM2 knockout mice establish the essential role of endothelial CCM2 in angiogenesis: implications for human cerebral cavernous malformations

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

EndMT contributes to the onset and progression of cerebral cavernous malformations

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Structure-function analysis of core STRIPAK Proteins: a signaling complex implicated in Golgi polarization.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Krit1 modulates beta 1-integrin-mediated endothelial cell proliferation

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Proteomic identification of the cerebral cavernous malformation signaling complex

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Interaction between krit1 and malcavernin: implications for the pathogenesis of cerebral cavernous malformations.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Genotype-phenotype correlations in cerebral cavernous malformations patients.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

santa and valentine pattern concentric growth of cardiac myocardium in the zebrafish

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Germ-cell loss extends C. elegans life span through regulation of DAF-16 by kri-1 and lipophilic-hormone signaling.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

Competition for talin results in trans-dominant inhibition of integrin activation

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999170

[131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies]

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24287896

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A gene responsible for cavernous malformations of the brain maps to chromosome 7q

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24287896

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sorting nexin 17 prevents lysosomal degradation of β1 integrins by binding to the β1-integrin tail

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24287896

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00018-013-1532-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24287896%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24287896%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference