Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia

Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia

Microtubules are dynamic cytoskeletal structures involved in several cellular functions, such as intracellular trafficking, cell division and motility. More than other cell types, neurons rely on the proper functioning of microtubules to conduct their activities and achieve complex morphologies. Pat...

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Bibliographic Details
Main Authors: Riccardo Zocchi, Emanuele Bellacchio, Michela Piccione, Raffaella Scardigli, Valentina D’Oria, Stefania Petrini, Kristin Baranano, Enrico Bertini, Antonella Sferra
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Cellular Neuroscience
Subjects:
tubulin
microtubule
tubulinopathies
TUBA1A
mutation
gene
Online Access:https://www.frontiersin.org/articles/10.3389/fncel.2023.1162363/full

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