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Updated: Jul 17, 2026

Generation, Purification, and Characterization of Cell-invasive DISC1 Protein Species
Published on: August 30, 2012
Role of DISC1 in neural development and schizophrenia
Shaun Mackie1, J Kirsty Millar, David J Porteous
1Medical Genetics Section, University of Edinburgh Centre for Molecular Medicine, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.
Abstract:
How can we hope to explain mechanistically the schizophrenic phenotype? Perhaps through the reductionist approach of genetics, which is beginning to yield biological clues. Growing evidence supports the view that the well-established genetic risk factor DISC1 plays an important role in schizophrenia biology by interacting with FEZ1 and NDEL1 during neurodevelopment and with the phosphodiesterase PDE4B in neuronal cell signalling. Thus, DISC1 and its pathways support the neurodevelopmental hypothesis of schizophrenia and provide a mechanistic explanation for the characteristic cognitive deficits. Genetic variants of DISC1 also predispose to related affective (mood) disorders. As a consequence, we can speculate on the mechanisms of DISC1 action and possible routes to treatment for these common, debilitating brain disorders.
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