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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, M...

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Autores principales: Wu, Xingxuan, Li, Zheng, Wang, Zhao-Qi, Xu, Xingzhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436222/
https://www.ncbi.nlm.nih.gov/pubmed/37599996
http://dx.doi.org/10.3389/fnins.2023.1242448
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author Wu, Xingxuan
Li, Zheng
Wang, Zhao-Qi
Xu, Xingzhi
author_facet Wu, Xingxuan
Li, Zheng
Wang, Zhao-Qi
Xu, Xingzhi
author_sort Wu, Xingxuan
collection PubMed
description 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.
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spelling pubmed-104362222023-08-19 The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM Wu, Xingxuan Li, Zheng Wang, Zhao-Qi Xu, Xingzhi Front Neurosci Neuroscience 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. Frontiers Media S.A. 2023-08-03 /pmc/articles/PMC10436222/ /pubmed/37599996 http://dx.doi.org/10.3389/fnins.2023.1242448 Text en Copyright © 2023 Wu, Li, Wang and Xu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Wu, Xingxuan
Li, Zheng
Wang, Zhao-Qi
Xu, Xingzhi
The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM
title The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM
title_full The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM
title_fullStr The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM
title_full_unstemmed The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM
title_short The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM
title_sort neurological and non-neurological roles of the primary microcephaly-associated protein aspm
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436222/
https://www.ncbi.nlm.nih.gov/pubmed/37599996
http://dx.doi.org/10.3389/fnins.2023.1242448
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