» Articles » PMID: 26945885

NEK1 Mutations in Familial Amyotrophic Lateral Sclerosis

Citing Articles

Circulating blood circular RNA in Parkinson's Disease; from involvement in pathology to diagnostic tools in at-risk individuals.

Beric A, Sun Y, Sanchez S, Martin C, Powell T, Kumar R NPJ Parkinsons Dis. 2024; 10(1):222.

PMID: 39557914 PMC: 11574145. DOI: 10.1038/s41531-024-00839-3.


ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.

Zelina P, de Ruiter A, Kolsteeg C, van Ginneken I, Vos H, Supiot L Acta Neuropathol Commun. 2024; 12(1):144.

PMID: 39227882 PMC: 11373222. DOI: 10.1186/s40478-024-01852-6.


Qki5 safeguards spinal motor neuron function by defining the motor neuron-specific transcriptome via pre-mRNA processing.

Hayakawa-Yano Y, Furukawa T, Matsuo T, Ogasawara T, Nogami M, Yokoyama K Proc Natl Acad Sci U S A. 2024; 121(37):e2401531121.

PMID: 39226364 PMC: 11406248. DOI: 10.1073/pnas.2401531121.


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

Santangelo S, Invernizzi S, Sorce M, Casiraghi V, Peverelli S, Brusati A Hum Mol Genet. 2024; 33(21):1900-1907.

PMID: 39222049 PMC: 11540924. DOI: 10.1093/hmg/ddae121.


Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.

Baumgartner D, Musova Z, Zidkova J, Hedvicakova P, Vlckova E, Joppekova L J Neuromuscul Dis. 2024; 11(5):1035-1048.

PMID: 39058450 PMC: 11380243. DOI: 10.3233/JND-230236.