(Q35204565)

7 August 2017

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

1 reference

chromosomal deletion syndrome

7 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1720927

8 November 2022

author name string

W. H. Raskind

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1720927

8 November 2022

C. A. Williams

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1720927

8 November 2022

L. D. Hudson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1720927

8 November 2022

T. D. Bird

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1720927

8 November 2022

language of work or name

English

0 references

publication date

1 December 1991

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1720927/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1720927

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1720927/?tool=EBI

8 November 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1720927

https://europepmc.org/articles/PMC1686465

8 November 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1720927

https://europepmc.org/articles/PMC1686465?pdf=render

8 November 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1720927

American Journal of Human Genetics

8 November 2022

published in

1 reference

7 August 2017

49

1 reference

7 August 2017

6

1 reference

7 August 2017

1355-1360

1 reference

Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mutant mouse

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686465

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686465

Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686465

Report of the committee on the genetic constitution of the X chromosome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686465

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686465

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686465

Myelin proteolipid protein gene structure and its regulation of expression in normal and jimpy mutant mice

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686465

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686465

A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus-merzbacher disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686465

X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686465

A single nucleotide difference in the gene for myelin proteolipid protein defines the jimpy mutation in mouse.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686465

An AG----GG transition at a splice site in the myelin proteolipid protein gene in jimpy mice results in the removal of an exon.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686465

Pelizaeus-Merzbacher disease

26 September 2018

1 reference

12 December 2020

Conservative amino acid substitution in the myelin proteolipid protein of jimpymsd mice

1 reference

12 December 2020

Lipophilin (PLP) gene in X-linked myelin disorders

1 reference

12 December 2020

Arrest of proteolipid transport through the Golgi apparatus in Jimpy brain

1 reference

12 December 2020

Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis

1 reference

12 December 2020

Identifiers

PMCID

1686465

1 reference

7 August 2017

1 reference