(Q41182431)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8696336%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

title

A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8696336%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8696336%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

author name string

Lazzarini RA

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8696336%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

language of work or name

English

0 references

publication date

1 August 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8696336%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8696336%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8696336%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8696336%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

page(s)

422-428

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8696336%20AND%20SRC:MED&resulttype=core&format=json

Quality control in the secretory pathway

17 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

Misfolded major histocompatibility complex class I molecules accumulate in an expanded ER-Golgi intermediate compartment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

Quality control in the secretory pathway: retention of a misfolded viral membrane glycoprotein involves cycling between the ER, intermediate compartment, and Golgi apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

Degradation of CFTR by the ubiquitin-proteasome pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

Multiple proteolytic systems, including the proteasome, contribute to CFTR processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

Nucleotide sequences of two mRNAs for rat brain myelin proteolipid protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

The oligodendrocyte and its many cellular processes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

Transgenic mouse model for central nervous system demyelination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

Dysmyelination in transgenic mice resulting from expression of class I histocompatibility molecules in oligodendrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

Posttranslational association of immunoglobulin heavy chain binding protein with nascent heavy chains in nonsecreting and secreting hybridomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

The initial events in myelin synthesis: orientation of proteolipid protein in the plasma membrane of cultured oligodendrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

Genetics of Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studies

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

The rumpshaker mutation in spastic paraplegia

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Intracellular transport and sorting of the oligodendrocyte transmembrane proteolipid protein.

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Regulation of protein export from the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Hypomyelinated mutant mice: description of jpmsd and comparison with jp and qk on their present genetic backgrounds

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Developmental expression of major myelin protein genes in the CNS of X-linked hypomyelinating mutant rumpshaker.

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Paralytic tremor (pt) rabbit: a sex-linked mutation affecting proteolipid protein-gene expression

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Paralytic tremor (pt): a new allele of the proteolipid protein gene in rabbits.

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Proteolipid/DM-20 proteins bearing the paralytic tremor mutation in peripheral nerves and transfected Cos-7 cells

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Proteolipid protein interactions in transfectants: implications for myelin assembly

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Protein oligomerization in the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Degradation of proteins within the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Immunocytochemical demonstration of the transport of myelin proteolipids through the Golgi apparatus

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Arrest of proteolipid transport through the Golgi apparatus in Jimpy brain

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

'Shaking pups': a disorder of central myelination in the spaniel dog. III. Quantitative aspects of glia and myelin in the spinal cord and optic nerve

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Ultrastructure of the central nervous system in a myelin deficient rat.

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Rumpshaker mouse: a new X-linked mutation affecting myelination: evidence for a defect in PLP expression

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

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

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Pelizaeus-Merzbacher disease: classical or connatal?

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Pelizaeus-Merzbacher disease: clinical and nosological study

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

The DM20 protein of myelin: intracellular and surface expression patterns in transfectants

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Purification and characterization of human lysosomal membrane glycoproteins

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Monoclonal antibodies against myelin proteolipid protein: identification and characterization of two major determinants

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Major Myelin proteolipid: the 4-alpha-helix topology

1 reference

https://api.crossref.org/works/10.1038%2FNG0896-422

7 January 2021

Identifiers

DOI

10.1038/NG0896-422

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8696336%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

17 October 2019

1048993748

0 references

Fatcat ID

release_ev3x4zgoxzfxvni2ivjjkz6ity

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ev3x4zgoxzfxvni2ivjjkz6ity

24 November 2022

mapped directly with Wikidata item

1 reference