Alterations of presynaptic proteins in autism spectrum disorderopen access
- Authors
- Yeo, Xin Yi; Lim, Yi Tang; Chae, Woo Ri; Park, Chungwon; Park, Hyokeun; Jung, Sangyong
- Issue Date
- Nov-2022
- Publisher
- FRONTIERS MEDIA SA
- Keywords
- presynaptic proteins; synaptopathy; presynaptic vesicle dynamics; vesicle release machinery; synaptogenesis; autism spectrum disorders (ASD)
- Citation
- FRONTIERS IN MOLECULAR NEUROSCIENCE, v.15
- Journal Title
- FRONTIERS IN MOLECULAR NEUROSCIENCE
- Volume
- 15
- URI
- https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/86655
- DOI
- 10.3389/fnmol.2022.1062878
- ISSN
- 1662-5099
- Abstract
- The expanded use of hypothesis-free gene analysis methods in autism research has significantly increased the number of genetic risk factors associated with the pathogenesis of autism. A further examination of the implicated genes directly revealed the involvement in processes pertinent to neuronal differentiation, development, and function, with a predominant contribution from the regulators of synaptic function. Despite the importance of presynaptic function in synaptic transmission, the regulation of neuronal network activity, and the final behavioral output, there is a relative lack of understanding of the presynaptic contribution to the pathology of autism. Here, we will review the close association among autism-related mutations, autism spectrum disorders (ASD) phenotypes, and the altered presynaptic protein functions through a systematic examination of the presynaptic risk genes relating to the critical stages of synaptogenesis and neurotransmission.
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