CORDIS Project
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This project studies mutations in the TUBB2B gene, which are linked to severe brain malformations. Using advanced cell technologies, the research aims to understand how these mutations affect brain development and the underlying mechanisms of related disorders.
Mutations in TUBB2B are associated with a range of malformations of cortical development: severe structural brain disorders stemming from abnormal cerebral cortex formation.
Functional investigation of TUBB2B mutations will enable us to elucidate distinct pathogenic mechanisms underlying various malformations and advance our understanding of normal brain development.TUBB2B is highly expressed during embryonic brain development.
It encodes a major component of microtubules (MTs), which perform es…
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