ArticleMolecular psychiatry2009
Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression.
Article in Molecular psychiatry, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.
- The Potential Use of Peripheral Blood Mononuclear Cells as Biomarkers for Treatment Response and Outcome Prediction in Psychiatry: A Systematic Review.Molecular diagnosis & therapy · 2021Pooled it
- Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder.Autism research : official journal of the International Society for Autism Research · 2023Trial
- The molecular footprint of valproic acid in human hippocampal organoid.Molecular neurobiology · 2026Article
- Phosphoproteomic profiling reveals reversal of dysregulated kinase signaling by nitric oxide inhibition in the Shank3 mouse model of autism.Scientific reports · 2026Article
- Protein Kinase C at the Crossroad of Mutations, Cancer, Targeted Therapy and Immune Response.Biology · 2023Review
- RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder.Scientific reports · 2023Article
- Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population.Journal of autism and developmental disorders · 2022Article
- Environmental Epigenetics of Diesel Particulate Matter Toxicogenomics.International journal of environmental research and public health · 2020Article
- Genetics of structural and functional brain changes in autism spectrum disorder.Translational psychiatry · 2020Review
- Tourette Syndrome Risk Genes Regulate Mitochondrial Dynamics, Structure, and Function.Frontiers in psychiatry · 2020Article
- Developmental protein kinase C hyper-activation results in microcephaly and behavioral abnormalities in zebrafish.Translational psychiatry · 2018Article
- Hippocampal expression of a virus-derived protein impairs memory in mice.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Genetic signatures of heroin addiction.Medicine · 2016Article
- Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects.Journal of neurodevelopmental disorders · 2016Article
- SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking.Translational psychiatry · 2014Article
- Eupolyphaga sinensis walker displays inhibition on hepatocellular carcinoma through regulating cell growth and metastasis signaling.Scientific reports · 2014Article
- Epigenetic effect of testosterone in the behavior of C. elegans. A clue to explain androgen-dependent autistic traits?Frontiers in cellular neuroscience · 2014Article
- Genome-wide association study of autistic-like traits in a general population study of young adults.Frontiers in human neuroscience · 2013Article
- Epigenetics and autism.Autism research and treatment · 2013Review
- Interrogation of brain miRNA and mRNA expression profiles reveals a molecular regulatory network that is perturbed by mutant huntingtin.Journal of neurochemistry · 2012Article
Corrections and comments
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Authors and funding
15 authors at 11 institutions in 3 countries.
Funding
Abstract
Protein kinase C enzymes play an important role in signal transduction, regulation of gene expression and control of cell division and differentiation. The fsI and betaII isoenzymes result from the alternative splicing of the PKCbeta gene (PRKCB1), previously found to be associated with autism. We performed a family-based association study in 229 simplex and 5 multiplex families, and a postmortem study of PRKCB1 gene expression in temporocortical gray matter (BA41/42) of 11 autistic patients and controls. PRKCB1 gene haplotypes are significantly associated with autism (P<0.05) and have the autistic endophenotype of enhanced oligopeptiduria (P<0.05). Temporocortical PRKCB1 gene expression was reduced on average by 35 and 31% for the PRKCB1-1 and PRKCB1-2 isoforms (P<0.01 and <0.05, respectively) according to qPCR. Protein amounts measured for the PKCbetaII isoform were similarly decreased by 35% (P=0.05). Decreased gene expression characterized patients carrying the 'normal' PRKCB1 alleles, whereas patients homozygous for the autism-associated alleles displayed mRNA levels comparable to those of controls. Whole genome expression analysis unveiled a partial disruption in the coordinated expression of PKCbeta-driven genes, including several cytokines. These results confirm the association between autism and PRKCB1 gene variants, point toward PKCbeta roles in altered epithelial permeability, demonstrate a significant downregulation of brain PRKCB1 gene expression in autism and suggest that it could represent a compensatory adjustment aimed at limiting an ongoing dysreactive immune process. Altogether, these data underscore potential PKCbeta roles in autism pathogenesis and spur interest in the identification and functional characterization of PRKCB1 gene variants conferring autism vulnerability.
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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.