Article
An mtDNA mutant mouse demonstrates that mitochondrial deficiency can result in autism endophenotypes.
Proceedings of the National Academy of Sciences of the United States of America - 9 Feb 2021
Yardeni Tal, Cristancho Ana G, McCoy Almedia J, Schaefer Patrick M, McManus Meagan J, Marsh Eric D, Wallace Douglas C
Abstract excerpt
Autism spectrum disorders (ASDs) are characterized by a deficit in social communication, pathologic repetitive behaviors, restricted interests, and electroencephalogram (EEG) aberrations. While exhaustive analysis of nuclear DNA (nDNA) variation has revealed hundreds of copy number variants (CNVs) and loss-of-function (LOF) mutations, no unifying hypothesis as to the pathophysiology of ASD has yet emerged. Based...
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