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A sequence variant in human KALRN impairs protein function and coincides with reduced cortical thickness
Mutations of the human KALRN gene are implicated in schizophrenia. Here, Russell et al.identify a genetic variant of this gene in a schizophrenia patient and his sibling diagnosed with major depressive disorder and substance abuse, and find that this is associated with reduced cortical volume and thickness.
- Theron A. Russell
- , Katherine D. Blizinsky
- & Peter Penzes
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Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology
The Wdfy3gene has been associated with autism spectrum disorders in children. Here, the authors examine two separate mutant alleles of this gene in mice and identify its role in cortical neurogenesis, reproducing pathological changes characteristic of the disorder.
- Lori A. Orosco
- , Adam P. Ross
- & Konstantinos S Zarbalis
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Loss of neuronal 3D chromatin organization causes transcriptional and behavioural deficits related to serotonergic dysfunction
It is becoming increasingly clear that the three-dimensional organization of chromatin within the nucleus plays a role in regulating gene expression. Here, Ito et al.demonstrate that the disruption of chromocenter clustering in mature neuronal cells results in specific transcriptional and behavioural defects in mice.
- Satomi Ito
- , Adriana Magalska
- & Angel Barco
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| Open AccessThe impact of the metabotropic glutamate receptor and other gene family interaction networks on autism
The autism spectrum disorders are complex genetic traits characterized by various neurodevelopmental deficits. Here, the authors analyse defective gene family interaction networks in autism cases and healthy controls and identify potential gene family interactions that may contribute to autism aetiology.
- Dexter Hadley
- , Zhi-liang Wu
- & Hakon Hakonarson
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| Open AccessProtein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism
Autism spectrum disorder (ASD) is a complex genetic trait that encompasses a range of neurodevelopmental disorders. Here, the authors clone brain-expressed alternatively-spliced isoforms of ASD risk factors and construct a network of protein interactions that provides further insight into the disease aetiology.
- Roser Corominas
- , Xinping Yang
- & Lilia M. Iakoucheva
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Genome-wide association study reveals two new risk loci for bipolar disorder
Bipolar disorder (BD) is a severe mood disorder, which has been shown to have a large genetic component. Here the authors identify two previously unreported BD risk loci and provide further insights into the biological mechanisms underlying BD development.
- Thomas W. Mühleisen
- , Markus Leber
- & Sven Cichon
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| Open AccessGenome-wide association study implicates NDST3 in schizophrenia and bipolar disorder
Schizophrenia and bipolar disorder are important psychiatric disorders with overlapping genetic components. Here, the authors identify and replicate a genome-wide significant risk locus for the two disorders, and suggest a role for NDST3in severe psychiatric disease.
- Todd Lencz
- , Saurav Guha
- & Ariel Darvasi
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Functional evaluation of autism-associated mutations in NHE9
Mutations in the gene that encodes the endosomal cation/proton antiporter NHE9 are implicated in neuropsychiatric disorders. In this study, the authors screen autism-associated variants in the human population and identify specific variants of NHE9 that are characterized by a loss of function in astrocytes.
- Kalyan C. Kondapalli
- , Anniesha Hack
- & Rajini Rao
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| Open AccessHypothalamic proteoglycan syndecan-3 is a novel cocaine addiction resilience factor
The lateral hypothalamus is implicated in drug reward and addiction. Chen and colleagues find that in the lateral hypothalamus of mice, the proteoglycan syndecan-3 negatively regulates cocaine-seeking behaviour by modulating the effects of glial cell line-derived neurotrophic factor.
- Jihuan Chen
- , Vez Repunte-Canonigo
- & Pietro Paolo Sanna
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| Open AccessUncoupling of the endocannabinoid signalling complex in a mouse model of fragile X syndrome
Fragile X syndrome is a major genetic cause of autism and is caused by loss of the fragile X mental retardation protein. In a mouse model of fragile X syndrome, Junget al. show that an absence of neuronal endocannabinoid signalling is responsible for the neurophysiological and behavioural defects.
- Kwang-Mook Jung
- , Marja Sepers
- & Olivier J. Manzoni