Codon modification of Tuba1a alters mRNA levels and causes a severe neurodevelopmental phenotype in mice

Abstract The tubulinopathies are an umbrella of rare diseases that result from mutations in tubulin genes and are frequently characterised by severe brain malformations. The characteristics of a given disease reflect the expression pattern of the transcript, the function of a given tubulin gene, and...

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Bibliographic Details
Main Authors: Ines Leca, Alexander William Phillips, Lyubov Ushakova, Thomas David Cushion, David Anthony Keays
Format: Article
Language:English
Published: Nature Portfolio 2023-01-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-023-27782-2