Article
DISC1 variants 37W and 607F disrupt its nuclear targeting and regulatory role in ATF4-mediated transcription.
Human molecular genetics - 15 Jun 2012
Malavasi Elise L V, Ogawa Fumiaki, Porteous David J, Millar J Kirsty
Abstract excerpt
Disrupted-In-Schizophrenia 1 (DISC1), a strong genetic candidate for psychiatric illness, encodes a multicompartmentalized molecular scaffold that regulates interacting proteins with key roles in neurodevelopment and plasticity. Missense DISC1 variants are associated with the risk of mental illness and with brain abnormalities in healthy carriers, but the underlying mechanisms are unclear. We examined the effect...
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