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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Principais autores:	Riccardo Zocchi, Emanuele Bellacchio, Michela Piccione, Raffaella Scardigli, Valentina D’Oria, Stefania Petrini, Kristin Baranano, Enrico Bertini, Antonella Sferra
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Frontiers Media S.A. 2023-06-01
סדרה:	Frontiers in Cellular Neuroscience
נושאים:	tubulin microtubule tubulinopathies TUBA1A mutation gene
גישה מקוונת:	https://www.frontiersin.org/articles/10.3389/fncel.2023.1162363/full
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