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Article

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

Biological chemistry Hoppe-Seyler - 1 Dec 1990

Weimbs T, Dick T, Stoffel W, Boltshauser E

Abstract excerpt

A group of inherited neurological disorders are the X-chromosome linked dysmyelinoses, in which myelin membranes of the CNS are missing or perturbed due to a strongly reduced number of differentiated oligodendrocytes. In animal dysmyelinoses (jimpy mouse, msd-mouse, md rat, shaking pup) mutations of the main integral myelin membrane protein, proteolipid protein, have been identified. Pelizaeus-Merzbacher disease...

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Identifiers

PMID: 1708672
DOI: 10.1515/bchm3.1990.371.2.1175

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

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A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis.PMID 1708672Read ↗

A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

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

Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene.Semantic proximity Read ↗

Current concepts of PLP and its role in the nervous system.Semantic proximity Read ↗

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

A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

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

Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.Semantic proximity Read ↗

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.Semantic proximity Read ↗

A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.Semantic proximity Read ↗

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