22q11 缺失综合征中的线粒体功能。
Mitochondrial Function in 22q11 Deletion Syndrome.
机构信息
Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI, USA; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI, USA.
Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI, USA; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI, USA; Hassenfeld Child Health Innovation Institute, Brown University, Providence, RI, USA.
出版信息
Neuron. 2019 Jun 19;102(6):1089-1091. doi: 10.1016/j.neuron.2019.05.052.
Copy number variant disorders arise from altering the dosage of multiple contiguous genes. In this issue of Neuron, Fernandez et al. (2019) identify haploinsufficiency of mitochondrial Txnrd2 as an important contributor to the hypo-cortico-cortical connectivity of 22q11 deletion syndrome.
拷贝数变异疾病是由多个相邻基因的剂量改变引起的。在本期《神经元》中，Fernandez 等人（2019）发现线粒体 Txnrd2 的杂合不足是 22q11 缺失综合征皮质下连接减少的一个重要原因。
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