Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.

doi:10.1038/s41467-024-46695-w

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Article

Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.

Nature communications - 20 Mar 2024

Funes Salome, Jung Jonathan, Gadd Del Hayden, Mosqueda Michelle, Zhong Jianjun, Shankaracharya, Unger Matthew, Stallworth Karly, Cameron Debra, Rotunno Melissa S, Dawes Pepper, Fowler-Magaw Megan, Keagle Pamela J, McDonough Justin A, Boopathy Sivakumar, Sena-Esteves Miguel, Nickerson Jeffrey A, Lutz Cathleen, Skarnes William C, Lim Elaine T, Schafer Dorothy P, Massi Francesca, Landers John E, Bosco Daryl A

Abstract excerpt

Microglia play a pivotal role in neurodegenerative disease pathogenesis, but the mechanisms underlying microglia dysfunction and toxicity remain to be elucidated. To investigate the effect of neurodegenerative disease-linked genes on the intrinsic properties of microglia, we studied microglia-like cells derived from human induced pluripotent stem cells (iPSCs), termed iMGs, harboring mutations in profilin-1...

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Identifiers

PMID: 38509062
DOI: 10.1038/s41467-024-46695-w
PMCID: PMC10954694

Genes

PFN1

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