Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression.

doi:10.1016/j.stem.2013.01.008

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Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression.

Cell stem cell - 7 Mar 2013

Reinhardt Peter, Schmid Benjamin, Burbulla Lena F, Schöndorf David C, Wagner Lydia, Glatza Michael, Höing Susanne, Hargus Gunnar, Heck Susanna A, Dhingra Ashutosh, Wu Guangming, Müller Stephan, Brockmann Kathrin, Kluba Torsten, Maisel Martina, Krüger Rejko, Berg Daniela, Tsytsyura Yaroslav, Thiel Cora S, Psathaki Olympia-Ekaterini, Klingauf Jürgen, Kuhlmann Tanja, Klewin Marlene, Müller Heiko, Gasser Thomas, Schöler Hans R, Sterneckert Jared

Abstract excerpt

The LRRK2 mutation G2019S is the most common genetic cause of Parkinson's disease (PD). To better understand the link between mutant LRRK2 and PD pathology, we derived induced pluripotent stem cells from PD patients harboring LRRK2 G2019S and then specifically corrected the mutant LRRK2 allele. We demonstrate that gene correction resulted in phenotypic rescue in differentiated neurons and uncovered expression...

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PMID: 23472874
DOI: 10.1016/j.stem.2013.01.008

Genes

CADPS2
CPNE8
UHRF2
ANXA1
MAP7

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