The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome

KIF1A is a microtubule-dependent motor protein responsible for fast anterograde transport of synaptic vesicle precursors in neurons. Pathogenic variants in KIF1A have been associated with a wide spectrum of neurological disorders. Here, we report a patient presenting a severe neurodevelopmental diso...

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Detalles Bibliográficos
Autores principales: Aguilera, Cinthia, Hümmer, Stefan, Masanas, Marc, Gabau, Elisabeth, Guitart, Miriam, Jeyaprakash, A. Arockia, Segura, Miguel F., Santamaria, Anna, Ruiz, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8187576/
https://www.ncbi.nlm.nih.gov/pubmed/34121983
http://dx.doi.org/10.3389/fnins.2021.618098

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8187576/
https://www.ncbi.nlm.nih.gov/pubmed/34121983
http://dx.doi.org/10.3389/fnins.2021.618098

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