Mitochondrial Dysfunction Leads to Cortical Under-Connectivity and Cognitive Impairment.
- AnnotationStudy identified a causal molecular mechanism that reflects diminished dosage of a single 22q11 gene-the mitochondrial enzyme thioredoxin-reductase 2 (Txnrd2)-essential for catabolism of reactive oxygen species underlies reduced long-distance projections limited axon and dendrite growth and disrupted mitochondrial and synaptic integrity in layer 2/3 in DiGeorge syndrome.
- CategoriesFunction, Phenotypes & Variants