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The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM

Primary microcephaly (MCPH), is a neurological disorder characterized by small brain size that results in numerous developmental problems, including intellectual disability, motor and speech delays, and seizures. Hitherto, over 30 MCPH causing genes ( MCPHs ) have been identified. Among these MCPHs...

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Bibliographic Details
Published in:Frontiers in neuroscience 2023-08, Vol.17, p.1242448-1242448
Main Authors: Wu, Xingxuan, Li, Zheng, Wang, Zhao-Qi, Xu, Xingzhi
Format: Article
Language:English
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Summary:Primary microcephaly (MCPH), is a neurological disorder characterized by small brain size that results in numerous developmental problems, including intellectual disability, motor and speech delays, and seizures. Hitherto, over 30 MCPH causing genes ( MCPHs ) have been identified. Among these MCPHs , MCPH5 , which encodes abnormal spindle-like microcephaly-associated protein (ASPM), is the most frequently mutated gene. ASPM regulates mitotic events, cell proliferation, replication stress response, DNA repair, and tumorigenesis. Moreover, using a data mining approach, we have confirmed that high levels of expression of ASPM correlate with poor prognosis in several types of tumors. Here, we summarize the neurological and non-neurological functions of ASPM and provide insight into its implications for the diagnosis and treatment of MCPH and cancer.
ISSN:1662-453X
1662-4548
1662-453X
DOI:10.3389/fnins.2023.1242448