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Article

Mutation in the FUS nuclear localisation signal domain causes neurodevelopmental and systemic metabolic alterations.

Disease models & mechanisms - 1 Oct 2023

Ali Zeinab, Godoy-Corchuelo Juan M, Martins-Bach Aurea B, Garcia-Toledo Irene, Fernández-Beltrán Luis C, Nair Remya R, Spring Shoshana, Nieman Brian J, Jimenez-Coca Irene, Bains Rasneer S, Forrest Hamish, Lerch Jason P, Miller Karla L, Fisher Elizabeth M C, Cunningham Thomas J, Corrochano Silvia

Abstract excerpt

Variants in the ubiquitously expressed DNA/RNA-binding protein FUS cause aggressive juvenile forms of amyotrophic lateral sclerosis (ALS). Most FUS mutation studies have focused on motor neuron degeneration; little is known about wider systemic or developmental effects. We studied pleiotropic phenotypes in a physiological knock-in mouse model carrying the pathogenic FUSDelta14 mutation in homozygosity. RNA...

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Identifiers

PMID: 37772684
DOI: 10.1242/dmm.050200
PMCID: PMC10642611

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Mutation in the FUS nuclear localisation signal domain causes neurodevelopmental and systemic metabolic alterations.PMID 37772684Read ↗

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