Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import

Loss-of-function variants in NIMA-related kinase 1 (NEK1) constitute a major genetic cause of amyotrophic lateral sclerosis (ALS), accounting for 2 to 3% of all cases. However, how NEK1 mutations cause motor neuron (MN) dysfunction is unknown. Using mass spectrometry analyses for NEK1 interactors an...

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Detalles Bibliográficos
Autores principales: Mann, Jacob R., McKenna, Elizabeth D., Mawrie, Darilang, Papakis, Vasileios, Alessandrini, Francesco, Anderson, Eric N., Mayers, Ryan, Ball, Hannah E., Kaspi, Evan, Lubinski, Katherine, Baron, Desiree M., Tellez, Liana, Landers, John E., Pandey, Udai B., Kiskinis, Evangelos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2023
Materias:
Biomedicine and Life Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10431718/
https://www.ncbi.nlm.nih.gov/pubmed/37585529
http://dx.doi.org/10.1126/sciadv.adi5548

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