Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.

Cellular and molecular life sciences : CMLS - 1 Jan 2007

Garbern J Y

Abstract excerpt

Pelizaeus-Merzbacher disease (PMD) and the allelic spastic paraplegia type 2 (SPG2) arise from mutations in the X-linked gene encoding myelin proteolipid protein (PLP). Analysis of mutations affecting PLP, the major protein in central nervous system myelin, has revealed previously unsuspected roles for myelinating glia in maintaining the integrity of the nervous system. The disease spectrum for PMD and SPG2 is...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Axons
Share to Central Nervous System
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Myelin Proteolipid Protein

Share to Myelin Sheath

Share to Neuroglia

Share to Neurons

Share to Pelizaeus-Merzbacher Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 17115121
DOI: 10.1007/s00018-006-6182-8
PMCID: PMC11136140

Genes

PLP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.PMID 17115121Read ↗

Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene.Semantic proximity Read ↗

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Neuropathology and genetics of Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes.Semantic proximity Read ↗

Neurogenetics of Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system.Semantic proximity Read ↗

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.Semantic proximity Read ↗

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease, easily misdiagnosed as cerebral palsy: a report of a three-generation family.Semantic proximity Read ↗

Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.