(Q34980848)

5 August 2017

Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice (English)

1 reference

5 August 2017

Thibault Ganay

1

1 reference

5 August 2017

Alexia Boizot

2

1 reference

5 August 2017

Renaud Burrer

3

1 reference

5 August 2017

Jean Paul Chauvin

4

1 reference

5 August 2017

Pascale Bomont

5

1 reference

5 August 2017

12 April 2011

1 reference

Molecular Neurodegeneration

5 August 2017

1 reference

5 August 2017

6

1 reference

5 August 2017

25

1 reference

describes a project that uses

5 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3094382/fullTextXML

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1186/1750-1326-6-25

0 references

cites work

Neuronal intermediate filaments and neurodegenerative disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Phenotypic variability in giant axonal neuropathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Giant axonal neuropathy: clinical and genetic study in six cases.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Functions of intermediate filaments in neuronal development and disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

BTB proteins are substrate-specific adaptors in an SCF-like modular ubiquitin ligase containing CUL-3.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Identification of seven novel mutations in the GAN gene.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Giant axonal neuropathy: normal protein composition of neurofilaments

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Giant axonal neuropathy: Intermediate filament aggregates in cultured skin fibroblasts

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Giant axonal neuropathy. A review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Giant axonal neuropathy: clinical, electrophysiologic, and neuropathologic features in two siblings.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Giant axonal neuropathy in 2 siblings: a generalized disorder of intermediate filaments

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

Giant Axonal Neuropathy—A Generalized Disorder of Cytoplasmic Microfilament Formation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094382

A case of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments.

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1326-6-25

Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1326-6-25

Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1326-6-25

Clinical and genetic studies in a Chinese family with giant axonal neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1326-6-25

Targeting of protein ubiquitination by BTB–Cullin 3–Roc1 ubiquitin ligases

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1326-6-25

The BTB protein MEL-26 is a substrate-specific adaptor of the CUL-3 ubiquitin-ligase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1326-6-25

Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1326-6-25

Age-dependent acrylamide neurotoxicity in mice: morphology, physiology, and function

21 January 2018

1 reference

12 December 2020

Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization

1 reference

12 December 2020

Abnormalities of the axonal cytoskeleton in giant axonal neuropathy

1 reference

12 December 2020

Giant axonal neuropathy

1 reference

12 December 2020

Giant axonal neuropathy--a unique case with segmental neurofilamentous masses

1 reference

12 December 2020

Clinical and molecular findings in patients with giant axonal neuropathy (GAN)

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1326-6-25

1 reference

Dimensions Publication ID

5 August 2017

1026175227

0 references

Fatcat ID

release_mniwka3lxbdkxmpmwebbvzkmcm

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mniwka3lxbdkxmpmwebbvzkmcm

24 November 2022

mapped directly with Wikidata item

PMCID

3094382

1 reference

5 August 2017

1 reference