Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form (Q36497120)

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English	Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form	scientific article

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scholarly article

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3 February 2020

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form (English)

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3 February 2020

2

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3 February 2020

Eleonora Lamantea

4

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3 February 2020

author name string

Roberta Biancheri

1

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3 February 2020

Laura Denegri

3

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3 February 2020

Francesca Pinto

5

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3 February 2020

Federica Lanza

6

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3 February 2020

Mariasavina Severino

7

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3 February 2020

Mirella Filocamo

8

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3 February 2020

publication date

6 June 2012

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3 February 2020

European Journal of Human Genetics

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3 February 2020

21

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3 February 2020

1

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3 February 2020

34-39

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3 February 2020

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.93

0 references

Ongoing and future developments at the Universal Protein Resource

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30 September 2017

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

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30 September 2017

Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533259

30 September 2017

Structure of the connexin 26 gap junction channel at 3.5 A resolution

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30 September 2017

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533259

30 September 2017

Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533259

30 September 2017

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533259

30 September 2017

Molecular modeling and mutagenesis of gap junction channels

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533259

30 September 2017

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533259

30 September 2017

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533259

30 September 2017

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

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Coot: model-building tools for molecular graphics

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30 September 2017

Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533259

30 September 2017

UCSF Chimera--a visualization system for exploratory research and analysis

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30 September 2017

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533259

30 September 2017

A possible role for pi-stacking in the self-assembly of amyloid fibrils

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A conserved tyrosine residue (Y601) in transmembrane domain 5 of the human thyrotropin receptor serves as a molecular switch to determine G-protein coupling.

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Comparative protein modelling by satisfaction of spatial restraints

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30 September 2017

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

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21 January 2018

Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease

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21 January 2018

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

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https://api.crossref.org/works/10.1038%2FEJHG.2012.93

21 January 2018

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

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21 January 2018

Specificity in transmembrane helix-helix interactions mediated by aromatic residues.

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https://api.crossref.org/works/10.1038%2FEJHG.2012.93

21 January 2018

Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533259

21 September 2018

Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.93

21 January 2018

Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/22669416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2012.93

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22669416%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22669416%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

1 reference

Europe PubMed Central

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3 February 2020

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