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Article

Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology.

Nature communications - 20 Apr 2023

Ziff Oliver J, Neeves Jacob, Mitchell Jamie, Tyzack Giulia, Martinez-Ruiz Carlos, Luisier Raphaelle, Chakrabarti Anob M, McGranahan Nicholas, Litchfield Kevin, Boulton Simon J, Al-Chalabi Ammar, Kelly Gavin, Humphrey Jack, Patani Rickie

Abstract excerpt

Amyotrophic Lateral Sclerosis (ALS) causes motor neuron degeneration, with 97% of cases exhibiting TDP-43 proteinopathy. Elucidating pathomechanisms has been hampered by disease heterogeneity and difficulties accessing motor neurons. Human induced pluripotent stem cell-derived motor neurons (iPSMNs) offer a solution; however, studies have typically been limited to underpowered cohorts. Here, we present a...

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Amyotrophic Lateral Sclerosis
Cadaver
Datasets as Topic
Gene Fusion
Genomic Instability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Induced Pluripotent Stem Cells

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PMID: 37080969
DOI: 10.1038/s41467-023-37630-6
PMCID: PMC10119258

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