ArticleMolecular psychiatry2005
A frameshift mutation in Disrupted in Schizophrenia 1 in an American family with schizophrenia and schizoaffective disorder.
Article in Molecular psychiatry, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
102 citing papers in PubMed, 2 syntheses or guidelines pooled it, 222 citations in OpenAlex.
- The impact of Disrupted-in-Schizophrenia 1 (DISC1) on the dopaminergic system: a systematic review.Translational psychiatry · 2017Pooled it
- New genes associated with schizophrenia in neurite formation: a review of cell culture experiments.Molecular psychiatry · 2007Pooled it
- Hyperdynamic microtubule-based structural changes in Monocyte-Derived-Neuronal-like cells from patients with schizophrenia.Schizophrenia (Heidelberg, Germany) · 2026Article
- The schizophrenia associated protein DISC1 forms a multivalent tetrameric hub via conserved UVR dimers.Nature communications · 2026Article
- Common Genomic and Proteomic Alterations Related to Disturbed Neural Oscillatory Activity in Schizophrenia.International journal of molecular sciences · 2025Review
- Tracing the aggregation pathway of the scaffold protein DISC1: Structural implications for chronic mental illnesses.Journal of structural biology: X · 2025Article
- Refining antipsychotic treatment strategies in schizophrenia: discovery of genetic biomarkers for enhanced drug response prediction.Molecular psychiatry · 2025Article
- Genetics of human brain development.Nature reviews. Genetics · 2024Review
- Exposure to the antiretroviral drug dolutegravir impairs structure and neurogenesis in a forebrain organoid model of human embryonic cortical development.Frontiers in molecular neuroscience · 2024Article
- Evidence of DISC1 as an arsenic binding protein and implications regarding its role as a translational activator.Frontiers in molecular biosciences · 2023Article
- Current advancements of modelling schizophrenia using patient-derived induced pluripotent stem cells.Acta neuropathologica communications · 2022Review
- Pathological oligodendrocyte precursor cells revealed in human schizophrenic brains and trigger schizophrenia-like behaviors and synaptic defects in genetic animal model.Molecular psychiatry · 2022Article
- Combining fMRI and DISC1 gene haplotypes to understand working memory-related brain activity in schizophrenia.Scientific reports · 2022Article
- Recent Reports on Redox Stress-Induced Mitochondrial DNA Variations, Neuroglial Interactions, and NMDA Receptor System in Pathophysiology of Schizophrenia.Molecular neurobiology · 2022Review
- Conformational heterogeneity coupled with β-fibril formation of a scaffold protein involved in chronic mental illnesses.Translational psychiatry · 2021Article
- Mutations in DISC1 alter IPNeuronal signaling · 2021Review
- Association of lncRNA with regulatory molecular factors in brain and their role in the pathophysiology of schizophrenia.Metabolic brain disease · 2021Review
- Mitophagy in Human Diseases.International journal of molecular sciences · 2021Review
- Pharmacological rescue in patient iPSC and mouse models with a rare DISC1 mutation.Nature communications · 2021Article
- Modeling neurological disorders using brain organoids.Seminars in cell & developmental biology · 2021Review
42 more citing papers are in PubMed but not listed here.
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6 authors at 3 institutions in 1 country.
Funding
Abstract
In a large Scottish pedigree, a balanced translocation t(1;11)(q42.1;q14.3) segregates with major mental illness, including schizophrenia, bipolar disorder, and recurrent major depression. The translocation is predicted to result in the loss of the C-terminal region of the protein product of Disrupted In SChizophrenia 1 (DISC1), a gene located on 1q42.1. Since this initial discovery, DISC1 has been functionally implicated in several processes, including neurodevelopment. Based on the genetic and functional evidence that DISC1 may be associated with schizophrenia, we sequenced portions of DISC1 in 28 unrelated probands with schizophrenia and six unrelated probands with schizoaffective disorder, ascertained as part of a large sibpair study. We detected a 4 bp deletion at the extreme 3' end of exon 12 in a proband with schizophrenia. The mutation was also present in a sib with schizophrenia, a sib with schizoaffective disorder, and the unaffected father, while the mutation was not detected in 424 control individuals. The mutation is predicted to cause a frameshift and encode a truncated protein with nine abnormal C-terminal amino acids. The truncated transcript is detectable, but at a reduced level, in lymphoblastoid cell lines from three of four mutation carriers. These findings are consistent with the possibility that mutations in the DISC1 gene can increase the risk for schizophrenia and related disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.