【2h】

Neurexins

机译:神经毒素

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摘要

The neurexin family of cell adhesion proteins consists of three members in vertebrates and has homologs in several invertebrate species. In mammals, each neurexin gene encodes an α-neurexin in which the extracellular portion is long, and a β-neurexin in which the extracellular portion is short. As a result of alternative splicing, both major isoforms can be transcribed in many variants, contributing to distinct structural domains and variability. Neurexins act predominantly at the presynaptic terminal in neurons and play essential roles in neurotransmission and differentiation of synapses. Some of these functions require the formation of trans-synaptic complexes with postsynaptic proteins such as neuroligins, LRRTM proteins or cerebellin. In addition, rare mutations and copy-number variations of human neurexin genes have been linked to autism and schizophrenia, indicating that impairments of synaptic function sustained by neurexins and their binding partners may be relevant to the pathomechanism of these debilitating diseases.
机译:细胞粘附蛋白的神经毒素家族由脊椎动物中的三个成员组成,并且在几种无脊椎动物中具有同系物。在哺乳动物中,每个神经毒素基因编码其中细胞外部分长的α-神经毒素和其中细胞外部分短的β-神经毒素。作为选择性剪接的结果,两种主要的同工型均可转录成许多变体,从而有助于形成独特的结构域和可变性。神经毒素主要在神经元的突触前末端起作用,并在神经传递和突触分化中起重要作用。这些功能中的某些功能需要与突触后蛋白(例如神经胶蛋白,LRRTM蛋白或小脑蛋白)形成反突触复合物。此外,人类神经毒素基因的罕见突变和拷贝数变异与自闭症和精神分裂症有关,这表明神经毒素及其结合伴侣持续的突触功能受损可能与这些使人衰弱的疾病的发病机制有关。

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