Bellosta Paola, Soldano Alessia
Laboratory of Metabolism of Cell Growth and Neuronal Survival, Department of Cellular, Computational and Integrative Biology (CIBio), University of Trento, Trento, Italy.
Department of Medicine, New York University Langone Medical Center, New York, NY, United States.
Front Physiol. 2019 Aug 7;10:987. doi: 10.3389/fphys.2019.00987. eCollection 2019.
Autism Spectrum Disorder (ASD) is a complex group of multi-factorial developmental disorders that leads to communication and behavioral defects. Genetic alterations have been identified in around 20% of ASD patients and the use of genetic models, such as , has been of paramount importance in deciphering the significance of these alterations. In fact, many of the ASD associated genes, such as encode for proteins that have conserved functions in neurons and during synapse development, both in humans and in the fruit fly. is a prominent model in neuroscience due to the conserved genetic networks that control neurodevelopmental processes and to the ease of manipulating its genetics. In the present review we will describe recent advances in the field of ASD with a particular focus on the characterization of genes where the use of has been fundamental to better understand their function.
自闭症谱系障碍（ASD）是一组复杂的多因素发育障碍，会导致沟通和行为缺陷。约20%的ASD患者已被确定存在基因改变，使用诸如[具体模型名称未给出]等基因模型，对于解读这些改变的意义至关重要。事实上，许多与ASD相关的基因，如[具体基因名称未给出]，编码的蛋白质在人类和果蝇的神经元以及突触发育过程中具有保守功能。[具体模型名称未给出]是神经科学中的一个重要模型，因为它具有控制神经发育过程的保守遗传网络，且易于进行基因操作。在本综述中，我们将描述ASD领域的最新进展，特别关注那些使用[具体模型名称未给出]对于更好理解其功能至关重要的基因的特征描述。
