Genomics

Dataset Information

118

Homo sapiens


ABSTRACT: Modeling the mutational and phenotypic landscapes of Pelizaeus-Merzbacher Disease using human iPSC-derived oligodendrocytes

ORGANISM(S): Homo sapiens  

PROVIDER: PRJNA378661 | ENA |

REPOSITORIES: ENA

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Publications

Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.

Nevin Zachary S ZS   Factor Daniel C DC   Karl Robert T RT   Douvaras Panagiotis P   Laukka Jeremy J   Windrem Martha S MS   Goldman Steven A SA   Fossati Valentina V   Hobson Grace M GM   Tesar Paul J PJ  

American journal of human genetics 20170330 4


Pelizaeus-Merzbacher disease (PMD) is a pediatric disease of myelin in the central nervous system and manifests with a wide spectrum of clinical severities. Although PMD is a rare monogenic disease, hundreds of mutations in the X-linked myelin gene proteolipid protein 1 (PLP1) have been identified in humans. Attempts to identify a common pathogenic process underlying PMD have been complicated by an incomplete understanding of PLP1 dysfunction and limited access to primary human oligodendrocytes.  ...[more]

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