Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy (Q36553011)

14 August 2017

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

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14 August 2017

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10

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14 August 2017

Michael E Shy

1

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author name string

Grace Hobson

2

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14 August 2017

Manisha Jain

3

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14 August 2017

Odile Boespflug-Tanguy

4

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14 August 2017

James Garbern

5

1 reference

14 August 2017

Karen Sperle

6

1 reference

14 August 2017

Wen Li

7

1 reference

14 August 2017

Alex Gow

8

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14 August 2017

Diana Rodriguez

9

1 reference

14 August 2017

Pedro Mancias

11

1 reference

14 August 2017

Karen Krajewski

12

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14 August 2017

Richard Lewis

13

1 reference

14 August 2017

John Kamholz

14

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14 August 2017

1 March 2003

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14 August 2017

1 reference

14 August 2017

53

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14 August 2017

3

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14 August 2017

354-365

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Multiple splice isoforms of proteolipid M6B in neurons and oligodendrocytes.

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Molecular pathways of oligodendrocyte apoptosis revealed by mutations in the proteolipid protein gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Alternative pre-mRNA splicing: the logic of combinatorial control

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

RNA processing and human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Exon recognition in vertebrate splicing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

The proteolipid protein gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Structure and expression of proteolipid protein in the peripheral nervous system

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Proteolipid protein is necessary in peripheral as well as central myelin.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Immunocytochemical localization of BiP to the rough endoplasmic reticulum: evidence for protein sorting by selective retention

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Myelin-specific proteolipid protein is expressed in myelinating Schwann cells but is not incorporated into myelin sheaths

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

DM-20 mRNA Is Expressed During the Embryonic Development of the Nervous System of the Mouse

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Selective expression of DM-20, an alternatively spliced myelin proteolipid protein gene product, in developing nervous system and in nonglial cells

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

A PLP splicing abnormality is associated with an unusual presentation of PMD.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Orientation of myelin proteolipid protein in the oligodendrocyte cell membrane.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4744322

Schwann cells stimulated to proliferate in the absence of neurons retain full functional capability

21 September 2018

1 reference

12 December 2020

Post-transcriptional regulation of thyroid hormone receptor expression by cis-acting sequences and a naturally occurring antisense RNA

1 reference

12 December 2020

Proteolipid DM-20 predominates over PLP in peripheral nervous system

1 reference

12 December 2020

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Proteolipid protein mRNA stability is regulated by axonal contact in the rodent peripheral nervous system

1 reference

12 December 2020

PELIZAEUS-MERZBACHER DISEASE. A STUDY IN NOSOLOGY

1 reference

12 December 2020

A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.10466

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

12601703

1 reference