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NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons.

Human molecular genetics - 5 Nov 2024

Santangelo Serena, Invernizzi Sabrina, Sorce Marta Nice, Casiraghi Valeria, Peverelli Silvia, Brusati Alberto, Colombrita Claudia, Ticozzi Nicola, Silani Vincenzo, Bossolasco Patrizia, Ratti Antonia

Abstract excerpt

The hexanucleotide G4C2 repeat expansion (HRE) in C9ORF72 gene is the major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leading to both loss- and gain-of-function pathomechanisms. The wide clinical heterogeneity among C9ORF72 patients suggests potential modifying genetic and epigenetic factors. Notably, C9ORF72 HRE often co-occurs with other rare variants in ALS/FTD-associated...

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Share to C9orf72 Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39222049
DOI: 10.1093/hmg/ddae121
PMCID: PMC11540924

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NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons.PMID 39222049Read ↗

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NEK1 haploinsufficiency impairs ciliogenesis in human iPSC-derived motoneurons and brain organoidsSemantic proximity Read ↗

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