Mitochondrial Function in 22q11 Deletion Syndrome
- PMID: 31220439
- DOI: 10.1016/j.neuron.2019.05.052
Mitochondrial Function in 22q11 Deletion Syndrome
Abstract
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.
Keywords: 22q11 deletion; CNV; ROS; Txnrd2; copy number variant; cortico-cortical connectivity; mitochondria; reactive oxygen species.
Copyright © 2019 Elsevier Inc. All rights reserved.
Comment on
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Mitochondrial Dysfunction Leads to Cortical Under-Connectivity and Cognitive Impairment.Neuron. 2019 Jun 19;102(6):1127-1142.e3. doi: 10.1016/j.neuron.2019.04.013. Epub 2019 May 9. Neuron. 2019. PMID: 31079872 Free PMC article.
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