(Q37423081)

20 August 2017

Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1. (English)

1 reference

Pelizaeus-Merzbacher disease

20 August 2017

1 reference

3

Randall L Woltjer

1 reference

20 August 2017

Anders A F Sima

1

1 reference

20 August 2017

Christopher R Pierson

2

1 reference

20 August 2017

Grace M Hobson

4

1 reference

20 August 2017

Jeffrey A Golden

5

1 reference

20 August 2017

William J Kupsky

6

1 reference

20 August 2017

Galen M Schauer

7

1 reference

20 August 2017

Thomas D Bird

8

1 reference

20 August 2017

Robert P Skoff

9

1 reference

20 August 2017

James Y Garbern

10

1 reference

20 August 2017

27 June 2009

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20 August 2017

Acta Neuropathologica

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20 August 2017

118

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20 August 2017

4

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20 August 2017

531-539

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Evolution of a neuroprotective function of central nervous system myelin

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Biology of oligodendrocyte and myelin in the mammalian central nervous system

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Late-onset neurodegeneration in mice with increased dosage of the proteolipid protein gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Axonal transection in the lesions of multiple sclerosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Genetics of Pelizaeus-Merzbacher disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes: implications for Pelizaeus-Merzbacher disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Proteolipid protein is necessary in peripheral as well as central myelin

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Early lesion of Pelizaeus-Merzbacher disease: electron microscopic and biochemical study

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Axonal swellings and degeneration in mice lacking the major proteolipid of myelin

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Immune cells contribute to myelin degeneration and axonopathic changes in mice overexpressing proteolipid protein in oligodendrocytes

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3876935

Electrophysiologic observations in the classical form of Pelizaeus-Merzbacher disease

2 October 2018

1 reference

12 December 2020

Axonal swellings in jimpy mice: does lack of myelin cause neuronal abnormalities?

1 reference

12 December 2020

Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease

1 reference

12 December 2020

Proteolipid DM-20 predominates over PLP in peripheral nervous system

1 reference

12 December 2020

Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene

1 reference

12 December 2020

Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease

1 reference

12 December 2020

Neuropathology and genetics of Pelizaeus-Merzbacher disease

1 reference

12 December 2020

Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus

1 reference

12 December 2020

Assembly of CNS myelin in the absence of proteolipid protein

1 reference

12 December 2020

Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease

1 reference

12 December 2020

The myelin proteolipid protein gene modulates apoptosis in neural and non-neural tissues

1 reference

12 December 2020

PLP overexpression perturbs myelin protein composition and myelination in a mouse model of Pelizaeus-Merzbacher disease

1 reference

12 December 2020

Proteolipid protein gene modulates viability and phenotype of neurons

1 reference

12 December 2020

Pelizaeus-Merzbacher disease

1 reference

12 December 2020

10.1007/S00401-009-0562-8

Identifiers

DOI

1 reference

release_zqywuyhe4nfkhmxqcqhpgopro4

20 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zqywuyhe4nfkhmxqcqhpgopro4

24 November 2022

mapped directly with Wikidata item

1 reference

20 August 2017

PubMed publication ID

19562355

1 reference