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<i>NEK1</i> haploinsufficiency worsens DNA damage but not defective ciliogenesis in <i>C9ORF72</i> patient-derived iPSC-motoneurons

2024-03-12

Abstract excerpt

A hexanucleotide G 4 C 2 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 factors. Notably, C9ORF72 mutations often co-occur with other variants in ALS/FTD-associated genes, suc...

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Literature Corpus work
eed77b18-6d42-5e46-abcf-bc62c3dd6a47
DOI
10.1101/2024.03.07.582752
Open publication

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<i>NEK1</i> haploinsufficiency worsens DNA damage but not defective ciliogenesis in <i>C9ORF72</i> patient-derived iPSC-motoneuronsDOI 10.1101/2024.03.07.582752
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