Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes

Pelizaeus-Merzbacher disease (PMD) is a form of X-linked leukodystrophy caused by mutations in the proteolipid protein 1 (PLP1) gene. Although PLP1 proteins with missense mutations have been shown to accumulate in the rough endoplasmic reticulum (ER) in disease model animals and cell lines transfect...

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Autors principals: Numasawa-Kuroiwa, Yuko, Okada, Yohei, Shibata, Shinsuke, Kishi, Noriyuki, Akamatsu, Wado, Shoji, Masanobu, Nakanishi, Atsushi, Oyama, Manabu, Osaka, Hitoshi, Inoue, Ken, Takahashi, Kazutoshi, Yamanaka, Shinya, Kosaki, Kenjiro, Takahashi, Takao, Okano, Hideyuki
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2014
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4050482/
https://ncbi.nlm.nih.gov/pubmed/24936452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.stemcr.2014.03.007
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