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Mutations in Hevin/Sparcl1 and risk of autism spectrum disorder
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作者 Takumi Taketomi Fuminori Tsuruta 《Neural Regeneration Research》 SCIE CAS CSCD 2023年第7期1499-1500,共2页
Hevin/Sparcl1(hereafter referred to as Hevin)is an extracellular matrix protein encoded by the SPARCL1 gene.Recently,it has been revealed that Hevin has various functions,such as synapse formation,neuronal migration,i... Hevin/Sparcl1(hereafter referred to as Hevin)is an extracellular matrix protein encoded by the SPARCL1 gene.Recently,it has been revealed that Hevin has various functions,such as synapse formation,neuronal migration,inflammation,and angiogenesis(Gongidi et al.,2004;Naschberger et al.,2016;Singh et al.,2016;Liu et al.,2021).In addition,genome-wide association studies uncovered de novo and familial mutations of the SPARCL1 gene associated with a risk for autism spectrum disorder(ASD)(De Rubeis et al.,2014).However,the relationship between ASD-associated Hevin mutant and cellular phenotype has not been clarified.Recently,we have reported that ASD-associated mutation in Hevin reduces secretion efficiency and induces endoplasmic reticulum(ER)stress caused by structural instability(Taketomi et al.,2022).In this perspective,we discuss the relationship between the molecular functions of Hevin and ASD risk(Figure 1A).Also,we introduce our recent findings that link ASD-associated Hevin mutant to the cellular phenotype of ASD. 展开更多
关键词 INFLAMMATION SPECTRUM
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Exploring genes that control microglial heterogeneity and transition
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作者 Tomomi Okajima Fuminori Tsuruta 《Neural Regeneration Research》 SCIE CAS CSCD 2021年第12期2397-2398,共2页
Microglia,which comprise approximately 10%of total cells in the brain,are the resident immune cells in the central nervous system and contribute to maintaining the brain homeostasis through monitoring their microenvir... Microglia,which comprise approximately 10%of total cells in the brain,are the resident immune cells in the central nervous system and contribute to maintaining the brain homeostasis through monitoring their microenvironment(Kettenmann et al.,2011).Recent studies have reported that microglia also regulate neural circuit formation after birth.The functional transition in microglia has been considered to correlate with their morphological changes over time. 展开更多
关键词 al. HOMEOSTASIS transition
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Microglial dynamics during brain development
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作者 tomomi okajima fuminori tsuruta 《Neural Regeneration Research》 SCIE CAS CSCD 2018年第2期222-223,共2页
Microglia are the resident immune cells of the central nervous system (CNS), In the normal state, microglia have a ramified shape and con- tinuously survey the conditions of the brain.
关键词 Microglial dynamics during brain development
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