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Article

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.

Journal of human genetics - 1 Sept 2012

Shimojima Keiko, Inoue Takahito, Imai Yuki, Arai Yasuhiro, Komoike Yuta, Sugawara Midori, Fujita Takako, Ideguchi Hiroshi, Yasumoto Sawa, Kanno Hitoshi, Hirose Shinichi, Yamamoto Toshiyuki

Abstract excerpt

Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder characterized by dysmyelination of the central nervous system (CNS). We identified a rare partial duplication of the proteolipid protein 1 gene (PLP1) in a patient with PMD. To assess the underlying effect of this duplication, we examined PLP1 expression in induced pluripotent stem (iPS) cells generated from the patient's fibroblasts....

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Source

Identifiers

PMID: 22695888
DOI: 10.1038/jhg.2012.71

Genes

PLP1
KLF4
MYC
SOX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.PMID 22695888Read ↗

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Generation of the human induced pluripotent stem cell line (ZJUi005-A) from a patient with Pelizaeus-Merzbacher disease (PMD) carrying a novel hemizygous mutation in PLP1 gene.Semantic proximity Read ↗

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Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.Semantic proximity Read ↗

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