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Article

NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons.

Stem cell research - 1 Jul 2018

Higelin Julia, Catanese Alberto, Semelink-Sedlacek Lena Luisa, Oeztuerk Sertap, Lutz Anne-Kathrin, Bausinger Julia, Barbi Gotthold, Speit Günter, Andersen Peter M, Ludolph Albert C, Demestre Maria, Boeckers Tobias M

Abstract excerpt

Mutations in genes coding for proteins involved in DNA damage response (DDR) and repair, such as C9orf72 and FUS (Fused in Sarcoma), are associated with neurodegenerative diseases and lead to amyotrophic lateral sclerosis (ALS). Heterozygous loss-of-function mutations in NEK1 (NIMA-related kinase 1) have also been recently found to cause ALS. NEK1 codes for a multifunctional protein, crucially involved in mitotic...

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Source

Identifiers

PMID: 29929116
DOI: 10.1016/j.scr.2018.06.005

Genes

NEK1
FUS

Variants

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