(Q38309247)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487800%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy (English)

1 reference

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7 March 2020

0 references

6

1 reference

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7 March 2020

Benoit Funalot

2

1 reference

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7 March 2020

Olivia Boyer

3

1 reference

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7 March 2020

Corinne Antignac

8

1 reference

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7 March 2020

author name string

Stéphane Mathis

1

1 reference

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7 March 2020

Catherine Lacroix

4

1 reference

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7 March 2020

Pascale Marcorelles

5

1 reference

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7 March 2020

Laurence Richard

7

1 reference

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7 March 2020

Jean-Michel Vallat

9

1 reference

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7 March 2020

publication date

1 March 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487800%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neuropathology & Experimental Neurology

7 March 2020

published in

1 reference

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7 March 2020

volume

73

1 reference

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7 March 2020

issue

3

1 reference

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7 March 2020

page(s)

223-233

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Epidemiology of peripheral neuropathy

7 March 2020

cites work

1 reference

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Charcot-Marie-Tooth disease subtypes and genetic testing strategies

21 January 2018

1 reference

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Charcot-Marie-Tooth disease: an update

21 January 2018

1 reference

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INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

INF2 is an endoplasmic reticulum-associated formin protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

On and around microtubules: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

Immunocytological studies of L-MAG expression regulation during myelination of embryonic brain cell cocultures

21 January 2018

1 reference

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Differential interactions of the formins INF2, mDia1, and mDia2 with microtubules

21 January 2018

1 reference

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An actin-dependent step in mitochondrial fission mediated by the ER-associated formin INF2

21 January 2018

1 reference

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Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

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Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

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An update on nerve biopsy

21 January 2018

1 reference

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Role of formins in actin assembly: nucleation and barbed-end association

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

Formin INF2 regulates MAL-mediated transport of Lck to the plasma membrane of human T lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

Review of the mechanism of processive actin filament elongation by formins

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

Filopodia: molecular architecture and cellular functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

The role of formins in filopodia formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

Rho activation of mDia formins is modulated by an interaction with inverted formin 2 (INF2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

The formin INF2 regulates basolateral-to-apical transcytosis and lumen formation in association with Cdc42 and MAL2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

Novel roles of formin mDia2 in lamellipodia and filopodia formation in motile cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

21 January 2018

1 reference

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A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

Inverted formin 2 regulates actin dynamics by antagonizing Rho/diaphanous-related formin signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

The function of RhoGTPases in axon ensheathment and myelination

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

The actin-severing protein cofilin is downstream of neuregulin signaling and is essential for Schwann cell myelination

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

The geometry of peripheral myelin sheaths during their formation and growth in rat sciatic nerves

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

Myosin II has distinct functions in PNS and CNS myelin sheath formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

N-WASp is required for Schwann cell cytoskeletal dynamics, normal myelin gene expression and peripheral nerve myelination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

The polarity protein Par-3 directly interacts with p75NTR to regulate myelination

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

Polarity proteins in glial cell functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000047

Pals1 is a major regulator of the epithelial-like polarization and the extension of the myelin sheath in peripheral nerves

21 January 2018

1 reference

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Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

21 January 2018

1 reference

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10.1097/NEN.0000000000000047

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487800%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference