Protein palmitoylation in neuronal development and synaptic plasticity

Y Fukata, M Fukata - Nature Reviews Neuroscience, 2010 - nature.com
Protein palmitoylation, a classical and common lipid modification, regulates diverse aspects
of neuronal protein trafficking and function. The reversible nature of palmitoylation provides …

Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder

EL Dempster, R Pidsley, LC Schalkwyk… - Human molecular …, 2011 - academic.oup.com
Studies of the major psychoses, schizophrenia (SZ) and bipolar disorder (BD), have
traditionally focused on genetic and environmental risk factors, although more recent work …

A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay

S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci… - Nature …, 2010 - nature.com
We report the identification of a recurrent, 520-kb 16p12. 1 microdeletion associated with
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases …

Exome sequencing supports a de novo mutational paradigm for schizophrenia

B Xu, JL Roos, P Dexheimer, B Boone, B Plummer… - Nature …, 2011 - nature.com
Despite its high heritability, a large fraction of individuals with schizophrenia do not have a
family history of the disease (sporadic cases). Here we examined the possibility that rare de …

The role of genetics in the etiology of schizophrenia

PV Gejman, AR Sanders, J Duan - Psychiatric Clinics, 2010 - psych.theclinics.com
This article introduces the reader to the genetics of schizophrenia: its background; the status
of a variety of genetic findings; new developments (which are many since the last review) 1; …

22q11. 2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia

M Karayiorgou, TJ Simon, JA Gogos - Nature Reviews Neuroscience, 2010 - nature.com
Recent studies are beginning to paint a clear and consistent picture of the impairments in
psychological and cognitive competencies that are associated with microdeletions in …

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease

A Goriely, AOM Wilkie - The American Journal of Human Genetics, 2012 - cell.com
Advanced paternal age has been associated with an increased risk for spontaneous
congenital disorders and common complex diseases (such as some cancers, schizophrenia …

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

D Pinto, K Darvishi, X Shi, D Rajan, D Rigler… - Nature …, 2011 - nature.com
We have systematically compared copy number variant (CNV) detection on eleven
microarrays to evaluate data quality and CNV calling, reproducibility, concordance across …

Population analysis of large copy number variants and hotspots of human genetic disease

A Itsara, GM Cooper, C Baker, S Girirajan, J Li… - The American Journal of …, 2009 - cell.com
Copy number variants (CNVs) contribute to human genetic and phenotypic diversity.
However, the distribution of larger CNVs in the general population remains largely …

Neurodevelopmental disorders associated with PSD-95 and its interaction partners

AM Levy, P Gomez-Puertas, Z Tümer - International Journal of Molecular …, 2022 - mdpi.com
The postsynaptic density (PSD) is a massive protein complex, critical for synaptic strength
and plasticity in excitatory neurons. Here, the scaffolding protein PSD-95 plays a crucial role …