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

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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Bibliographic Details
Main Authors: Cinthia Aguilera, Stefan Hümmer, Marc Masanas, Elisabeth Gabau, Miriam Guitart, A. Arockia Jeyaprakash, Miguel F. Segura, Anna Santamaria, Anna Ruiz
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Neuroscience
Subjects:
NESCAV syndrome
KIF1A
kinesin
microtubule
motility
ATPase
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2021.618098/full

Internet

https://www.frontiersin.org/articles/10.3389/fnins.2021.618098/full

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