(Q39455001)

12 September 2017

title

Misalignment of PLP/DM20 transmembrane domains determines protein misfolding in Pelizaeus-Merzbacher disease (English)

1 reference

12 September 2017

main subject

transmembrane protein

0 references

3

Klaus-Armin Nave

2 references

12 September 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623585&resulttype=core&format=json

15 May 2020

author name string

Ajit Singh Dhaunchak

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623585&resulttype=core&format=json

15 May 2020

David R Colman

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623585&resulttype=core&format=json

15 May 2020

language of work or name

English

0 references

publication date

1 October 2011

1 reference

12 September 2017

published in

Journal of Neuroscience

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623585&resulttype=core&format=json

15 May 2020

volume

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623585&resulttype=core&format=json

15 May 2020

issue

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623585&resulttype=core&format=json

15 May 2020

page(s)

14961-14971

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623585&resulttype=core&format=json

Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

15 May 2020

cites work

1 reference

12 December 2020

Membrane protein folding and stability: physical principles

1 reference

12 December 2020

Setting the standards: quality control in the secretory pathway

1 reference

12 December 2020

The evolution of lipophilin genes from invertebrates to tetrapods: DM-20 cannot replace proteolipid protein in CNS myelin.

1 reference

12 December 2020

TNFRSF1A mutations and autoinflammatory syndromes

1 reference

12 December 2020

Functional rescue of the nephrogenic diabetes insipidus-causing vasopressin V2 receptor mutants G185C and R202C by a second site suppressor mutation

1 reference

12 December 2020

Quality control of transmembrane domain assembly in the tetraspanin CD82

1 reference

12 December 2020

Diverse trafficking abnormalities of connexin32 mutants causing CMTX

1 reference

12 December 2020

Quality control in the endoplasmic reticulum

1 reference

12 December 2020

Role of calnexin in the glycan-independent quality control of proteolipid protein

1 reference

12 December 2020

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

12 December 2020

Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations

1 reference

12 December 2020

Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency.

1 reference

12 December 2020

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

1 reference

12 December 2020

Disease-associated mutations cause premature oligomerization of myelin proteolipid protein in the endoplasmic reticulum.

1 reference

12 December 2020

Neuron to glia signaling triggers myelin membrane exocytosis from endosomal storage sites

1 reference

12 December 2020

SNAREs--engines for membrane fusion

1 reference

12 December 2020

Perturbed interactions of mutant proteolipid protein/DM20 with cholesterol and lipid rafts in oligodendroglia: implications for dysmyelination in spastic paraplegia.

1 reference

12 December 2020

Novel alternatively spliced endoplasmic reticulum retention signal in the cytoplasmic loop of Proteolipid Protein-1.

1 reference

12 December 2020

A common mechanism of PLP/DM20 misfolding causes cysteine-mediated endoplasmic reticulum retention in oligodendrocytes and Pelizaeus-Merzbacher disease

1 reference

12 December 2020

VMA11, a novel gene that encodes a putative proteolipid, is indispensable for expression of yeast vacuolar membrane H(+)-ATPase activity

1 reference

12 December 2020

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease

1 reference

12 December 2020

The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein.

1 reference

12 December 2020

Modulation of the oligomerization of myelin proteolipid protein by transmembrane helix interaction motifs

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of thiol groups and a disulfide crosslink site in bovine myelin proteolipid protein

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

A human glial hybrid cell line differentially expressing genes subserving oligodendrocyte and astrocyte phenotype

1 reference

12 December 2020

A proteolipid protein gene family: expression in sharks and rays and possible evolution from an ancestral gene encoding a pore-forming polypeptide

1 reference

12 December 2020

Neuropathology and genetics of Pelizaeus-Merzbacher disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Conservation of topology, but not conformation, of the proteolipid proteins of the myelin sheath

1 reference

12 December 2020

Monoclonal antibody O10 defines a conformationally sensitive cell-surface epitope of proteolipid protein (PLP): evidence that PLP misfolding underlies dysmyelination in mutant mice.

1 reference

12 December 2020

A mouse cytomegalovirus glycoprotein, gp34, forms a complex with folded class I MHC molecules in the ER which is not retained but is transported to the cell surface

1 reference

12 December 2020

Phenotypic severity of murine Plp mutants reflects in vivo and in vitro variations in transport of PLP isoproteins

1 reference

12 December 2020

Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mouse models of myelin diseases

1 reference

12 December 2020

10.1523/JNEUROSCI.2097-11.2011

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623585&resulttype=core&format=json

15 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623585&resulttype=core&format=json

15 May 2020

1 reference