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179,180 Deficiency or point mutation of chromodomain helicase DNA-binding protein 7 (CHD7), a chromatin remodeler with adenosine triphosphatase (ATPase) activity, is the causative factor of CHARGE syndrome
First, mechanistic studies should integrate single-cell spatial transcriptomics and mitochondrial metabolomics to map ferroptosis pathways in MSNs and microglia in the basal ganglia and striatum of patients with HD
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