期刊
MOLECULAR NEUROBIOLOGY
卷 44, 期 1, 页码 83-92出版社
SPRINGER
DOI: 10.1007/s12035-011-8192-2
关键词
Aspartate-glutamate carrier; Autism; Autistic disorder; Calcium signaling; Mitochondria; SLC25A12
资金
- Italian Ministry for University, Scientific Research and Technology [2006058195, 2008BACT54_002, RBIN04PHZ7_001]
- Italian Ministry of Health [RFPS-2007-5-640174]
- Autism Speaks Foundation (Princeton, NJ)
- Autism Research Institute (San Diego, CA)
- Fondazione Gaetano e Mafalda Luce (Milan, Italy)
- Autism Aids Onlus (Naples, Italy)
Autism spectrum disorder (ASD) is a severe, complex neurodevelopmental disorder characterized by impairments in reciprocal social interaction and communication, and restricted and stereotyped patterns of interests and behaviors. Recent evidence has unveiled an important role for calcium (Ca2+) signaling in the pathogenesis of ASD. Postmortem studies of autistic brains have pointed toward abnormalities in mitochondrial function as possible downstream consequences of altered Ca2+ signaling, abnormal synapse formation, and dysreactive immunity. SLC25A12, an ASD susceptibility gene, encodes the Ca2+-regulated mitochondrial aspartate-glutamate carrier, isoform 1 (AGC1). AGC1 is an important component of the malate/aspartate shuttle, a crucial system supporting oxidative phosphorylation and adenosine triphosphate (ATP) production. Here, we review the physiological roles of AGC1, its links to calcium homeostasis, and its involvement in autism pathogenesis.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据