KIF2A deficiency causes early-onset neurodegeneration

Significance In this paper, we describe an additional function for KIF2A in the postnatal brain and provide evidence that KIF2A-related pathologies result from defects in neuronal connectivity and early-onset neurodegeneration rather than from impaired neurogenesis as commonly assumed. We conditionally deleted KIF2A from progenitors, nascent and mature cortical neurons and showed that this protein is key for maturation and maintenance of neurons. KIF2A deficiency altered microtubule dynamics and intracellular transport and compromised neuronal connectivity and survival. Our results shed light on the mechanisms by which KIF2A mutations cause brain diseases.

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