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Autophagy in synaptic development,function,and pathology 被引量:8
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作者 Dan-Na Shen Li-Hui Zhang +1 位作者 Er-Qing Wei Yi Yang 《Neuroscience Bulletin》 SCIE CAS CSCD 2015年第4期416-426,共11页
In the nervous system, neurons contact each other to form neuronal circuits and drive behavior, relying heavily on synaptic connections. The proper development and growth of synapses allows functional transmission of ... In the nervous system, neurons contact each other to form neuronal circuits and drive behavior, relying heavily on synaptic connections. The proper development and growth of synapses allows functional transmission of electrical information between neurons or between neurons and muscle fibers. Defects in synapse-formation or development lead to many diseases. Autophagy, a major determinant of protein turnover, is an essential process that takes place in developing synapses. During the induction of autophagy, proteins and cytoplasmic components are encapsulated in autophagosomes, which fuse with lysosomes to form autolysosomes. The cargoes are subsequently degraded and recycled. However, aberrant autophagic activity may lead to synaptic dysfunction, which is a common pathological characteristic in several disorders. Here, we review the current understanding of autophagy in regulating synaptic development and function. In addition, autophagy-related synaptic dysfunction in human diseases is also summarized. 展开更多
关键词 AUTOPHAGY synaptOGENESIS synaptic elimination synaptic function synaptic pathology
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SRPX2基因突变导致神经系统疾病及致病机制研究进展
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作者 罗晓娜 蔡成 《国际儿科学杂志》 2024年第10期669-673,共5页
SRPX2蛋白是与神经系统发育相关的一种分泌型蛋白,尤其在语言发育中起着重要作用。在儿童期,语言发育障碍可严重影响儿童身心发育,且往往与智力发育迟缓伴随存在。目前研究表明SRPX2基因突变在人类中并不多见,该基因位于X染色体上,男性... SRPX2蛋白是与神经系统发育相关的一种分泌型蛋白,尤其在语言发育中起着重要作用。在儿童期,语言发育障碍可严重影响儿童身心发育,且往往与智力发育迟缓伴随存在。目前研究表明SRPX2基因突变在人类中并不多见,该基因位于X染色体上,男性突变患者和女性携带者都可能发病,而疾病严重程度与突变位点并不完全相关。SRPX2与语言发育相关的基因uPAR和FOXP2形成语言通路,影响语言的发育。此外SRPX2基因突变影响大脑皮层神经元迁移以及补体介导的突触消除。目前报道的SRPX2基因突变可导致癫痫、语言发育迟缓、智力发育迟滞、孤独症、小头畸形、多小脑回畸形、听力障碍等。该文对SRPX2在神经系统发育过程中的作用及相关疾病进行综述。 展开更多
关键词 SRPX2基因 语言通路 癫痫 皮层神经元迁移 突触消除
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