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Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALS

19 May 2025

Abstract excerpt

Mutations in FUS and TARDBP cause amyotrophic lateral sclerosis (ALS), but the precise mechanisms of selective motor neuron degeneration remain unresolved. To address if pathomechanisms are shared across mutations and related to either gain- or loss-of-function, we performed single-cell RNA sequencing across isogenic induced pluripotent stem cell-derived neuron types, harbouring FUS P525L, FUS R495X, TARDBP M337V...

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Amyotrophic Lateral Sclerosis Research
Neurogenetic and Muscular Disorders Research

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 40389397
DOI: 10.1038/s41467-025-59679-1

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