(Q35074267)

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Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

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scholarly article

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Europe PubMed Central

PubMed publication ID

6 August 2017

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

6

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Europe PubMed Central

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6 August 2017

David N. Cooper

17

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Europe PubMed Central

PubMed publication ID

6 August 2017

Antonio Percesepe

object named as

Antonio Percesepe

13

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object named as

Andrea Rossi

15

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Graziella Uziel

7

object named as

Graziella Uziel

1 reference

Europe PubMed Central

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6 August 2017

4

object named as

Matthew Mort

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Europe PubMed Central

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6 August 2017

Catherine Vaurs-Barrière

object named as

Catherine Vaurs-Barrière

16

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ORCID Public Data File 2021

author name string

Serena Grossi

1

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Stefano Regis

2

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Europe PubMed Central

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6 August 2017

Roberta Biancheri

3

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Europe PubMed Central

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6 August 2017

Susanna Lualdi

5

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Europe PubMed Central

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6 August 2017

Odile Boespflug-Tanguy

8

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Europe PubMed Central

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6 August 2017

Alessandro Simonati

9

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Europe PubMed Central

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6 August 2017

Fabio Corsolini

10

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Europe PubMed Central

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6 August 2017

Ercan Demir

11

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6 August 2017

Valentina Marchiani

12

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6 August 2017

Franco Stanzial

14

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6 August 2017

Mirella Filocamo

18

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6 August 2017

publication date

16 June 2011

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Europe PubMed Central

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6 August 2017

Orphanet Journal of Rare Diseases

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6 August 2017

6

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Europe PubMed Central

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6 August 2017

40

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Europe PubMed Central

PubMed publication ID

6 August 2017

https://scigraph.springernature.com/pub.10.1186/1750-1172-6-40

0 references

A map of human genome variation from population-scale sequencing

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8 July 2018

De novo rates and selection of large copy number variation

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8 July 2018

Genomic rearrangements in inherited disease and cancer

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Genomic features defining exonic variants that modulate splicing

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In silico functional profiling of human disease-associated and polymorphic amino acid substitutions

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Automated inference of molecular mechanisms of disease from amino acid substitutions.

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Myelin proteomics: molecular anatomy of an insulating sheath

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8 July 2018

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease

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The mechanism of human nonhomologous DNA end joining

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8 July 2018

Inference of splicing regulatory activities by sequence neighborhood analysis

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8 July 2018

Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis

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8 July 2018

Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease

1 reference

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8 July 2018

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

1 reference

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8 July 2018

The mammalian unfolded protein response

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8 July 2018

PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2

1 reference

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8 July 2018

Insertion of mutant proteolipid protein results in missorting of myelin proteins.

1 reference

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8 July 2018

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

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8 July 2018

Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy

1 reference

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8 July 2018

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

1 reference

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8 July 2018

Oligodendrocytes expressing exclusively the DM20 isoform of the proteolipid protein gene: myelination and development

1 reference

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8 July 2018

The pathobiology of myelin mutants reveal novel biological functions of the MBP and PLP genes.

1 reference

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8 July 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

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8 July 2018

Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain

1 reference

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8 July 2018

Lines of murine oligodendroglial precursor cells immortalized by an activated neu tyrosine kinase show distinct degrees of interaction with axons in vitro and in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125326

8 July 2018

Individual exons encode the integral membrane domains of human myelin proteolipid protein

1 reference

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8 July 2018

The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125326

8 July 2018

Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin

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8 July 2018

Approach to identification of a point mutation in apo B100 gene by means of a PCR-mediated site-directed mutagenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125326

8 July 2018

Major myelin proteolipid: the 4-alpha-helix topology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125326

8 July 2018

Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125326

8 July 2018

Proteolipid protein (PLP) of CNS myelin: positions of free, disulfide-bonded, and fatty acid thioester-linked cysteine residues and implications for the membrane topology of PLP

1 reference

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8 July 2018

Evolution of myelin proteolipid proteins: gene duplication in teleosts and expression pattern divergence.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-40

21 January 2018

Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-40

21 January 2018

The Human Gene Mutation Database: 2008 update

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21 January 2018

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes

1 reference

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21 January 2018

PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125326

27 September 2018

Embryonic expression of the soma-restricted products of the myelin proteolipid gene in motor neurons and muscle

1 reference

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27 September 2018

Standardizing mutation nomenclature: why bother?

1 reference

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27 September 2018

A proteolipid protein-specific pre-mRNA (Ppm-1) contains intron 3 and is up-regulated during myelination in the CNS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125326

27 September 2018

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125326

27 September 2018

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-40

21 January 2018

Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-40

21 January 2018

A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/21679407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/21679407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/21679407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assembly of CNS myelin in the absence of proteolipid protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/21679407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adhesive properties of proteolipid protein are responsible for the compaction of CNS myelin sheaths

1 reference

https://pubmed.ncbi.nlm.nih.gov/21679407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/21679407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-6-40

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

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