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 …
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
Studies of the major psychoses, schizophrenia (SZ) and bipolar disorder (BD), have
traditionally focused on genetic and environmental risk factors, although more recent work …
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
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 …
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases …
Exome sequencing supports a de novo mutational paradigm for schizophrenia
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 …
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; …
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
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 …
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 …
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
We have systematically compared copy number variant (CNV) detection on eleven
microarrays to evaluate data quality and CNV calling, reproducibility, concordance across …
microarrays to evaluate data quality and CNV calling, reproducibility, concordance across …
Population analysis of large copy number variants and hotspots of human genetic disease
Copy number variants (CNVs) contribute to human genetic and phenotypic diversity.
However, the distribution of larger CNVs in the general population remains largely …
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 …
and plasticity in excitatory neurons. Here, the scaffolding protein PSD-95 plays a crucial role …