Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease (Q28854289)

28 February 2017

title

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease (English)

1 reference

28 February 2017

1 reference

Antonio Espert

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Laia Pedrola

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Francesc Palau

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Teresa Valdés-Sánchez

1 reference

28 February 2017

Maribel Sánchez-Piris

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28 February 2017

Erich E. Sirkowski

1 reference

28 February 2017

Steven S. Scherer

1 reference

28 February 2017

Isabel Fariñas

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28 February 2017

publication date

1 April 2008

1 reference

Journal of Cellular and Molecular Medicine

28 February 2017

published in

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28 February 2017

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28 February 2017

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28 February 2017

page(s)

679–689

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Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase

28 February 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

CMT4A: identification of a Hispanic GDAP1 founder mutation

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

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

16 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

16 March 2017

https://api.crossref.org/works/10.1111%2FJ.1582-4934.2007.00158.X

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

Mitochondrial fusion and fission in mammals

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

Mitochondrial dynamics in mammals

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

Disease mechanisms in inherited neuropathies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570022

Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes

3 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1582-4934.2007.00158.X

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1582-4934.2007.00158.X

Physical and Genetic Mapping of the CMT4A Locus and Exclusion of PMP-2 as the Defect in CMT4A

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1582-4934.2007.00158.X

Autosomal recessive forms of Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/18021315

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prevalence of hereditary motor and sensory neuropathy in Cantabria

1 reference

https://pubmed.ncbi.nlm.nih.gov/18021315

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

p75-deficient trigeminal sensory neurons have an altered response to NGF but not to other neurotrophins

1 reference

https://pubmed.ncbi.nlm.nih.gov/18021315

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1582-4934.2007.00158.X

1 reference

28 February 2017

0 references

1 reference