The DOI matches its Crossref record; 41 of the 44 references it cites were found in a registry or an index.
mRNA and Protein Levels for GABAAα4, α5, β1 and GABABR1 Receptors are Altered in Brains from Subjects with Autism
Open accessAbstract
We have shown altered expression of gamma-aminobutyric acid A (GABA(A)) and gamma-aminobutyric acid B (GABA(B)) receptors in the brains of subjects with autism. In the current study, we sought to verify our western blotting data for GABBR1 via qRT-PCR and to expand our previous work to measure mRNA and protein levels of 3 GABA(A) subunits previously associated with autism (GABRalpha4; GABRalpha5; GABRbeta1). Three GABA receptor subunits demonstrated mRNA and protein level concordance in superior frontal cortex (GABRalpha4, GABRalpha5, GABRbeta1) and one demonstrated concordance in cerebellum (GABBetaR1). These results provide further evidence of impairment of GABAergic signaling in autism.
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“In cerebellum, concordant reductions have been observed in mRNA and protein levels for GABAB R1 receptor in subjects with autism [130].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [130]
In the citing paper
“Additionally, other studies have reported reduced GABAA [129, 130] and GABAB [124, 130] receptor density and system activity in the brains of autistic patients.”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [130]
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Cites
Diagnostic and Statistical Manual of Mental Disorders
Williams, J. B. W., & First, M. B. (2013) · Oxford University Press eBooks · doi:10.1093/acrefore/9780199975839.013.104 · Cited by 109,845
Diagnostic and Statistical Manual of Mental Disorders
American Psychiatric Association (2022) · doi:10.1176/appi.books.9780890425787 · Cited by 23,476
International Union of Pharmacology: Approaches to the Nomenclature of Voltage-Gated Ion Channels
Catterall, W. A., Chandy, K. G., Clapham, D. E., Gutman, G. A., Hofmann, F., Harmar, A. J., Abernethy, D. R., & Spedding, M. (2003) · Pharmacological Reviews · doi:10.1124/pr.55.4.5 · Cited by 7,126
GABAB receptors function as a heteromeric assembly of the subunits GABABR1 and GABABR2
JONES, K. A., Borowsky, B., Tamm, J. A., Craig, D. A., Durkin, M. M., Dai, M., Yao, W.-J., Johnson, M., Gunwaldsen, C., Huang, L., et al. (1998) · Nature · doi:10.1038/25348 · Cited by 1,081
Olsen, R. W., & Sieghart, W. (2008) · Pharmacological Reviews · doi:10.1124/pr.108.00505 · Cited by 1,064
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
Matsuura, T., Sutcliffe, J. S., Fang, P., Galjaard, R. H., Jiang, Y., Benton, C. S., Rommens, J. M., & Beaudet, A. L. (1997) · Nature Genetics · doi:10.1038/ng0197-74 · Cited by 858
Tuchman, R. F., & Rapin, I. (2002) · The Lancet Neurology · doi:10.1016/s1474-4422(02)00160-6 · Cited by 727
Fatemi, S. H., Halt, A. R., Stary, J. M., Kanodia, R., Schulz, S. C., & Realmuto, G. R. (2002) · Biological Psychiatry · doi:10.1016/s0006-3223(02)01430-0 · Cited by 500
Self-citationGABAA Receptor Downregulation in Brains of Subjects with Autism
Fatemi, S. H., Reutiman, T. J., Folsom, T. D., & Thuras, P. D. (2009) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-008-0646-7 · Cited by 439
Self-citationSamaco, R. C., Hogart, A., & LaSalle, J. M. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddi045 · Cited by 425
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Advancing the understanding of autism disease mechanisms through genetics
de la Torre-Ubieta, L., Won, H., Stein, J. L., & Geschwind, D. H. (2016) · Nature Medicine · doi:10.1038/nm.4071 · Cited by 827
Zoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009886 · Cited by 797
Consensus Paper: Pathological Role of the Cerebellum in Autism
Fatemi, S. H., Aldinger, K. A., Ashwood, P., Bauman, M. L., Blaha, C. D., Blatt, G. J., Chauhan, A., Chauhan, V., Dager, S. R., Dickson, P. E., et al. (2012) · The Cerebellum · doi:10.1007/s12311-012-0355-9 · Cited by 723
Self-citationGABAergic Interneurons Shape the Functional Maturation of the Cortex
Le Magueresse, C., & Monyer, H. (2013) · Neuron · doi:10.1016/j.neuron.2013.01.011 · Cited by 425
Selimbeyoglu, A., Kim, C. K., Inoue, M., Lee, S. Y., Hong, A. S. O., Kauvar, I., Ramakrishnan, C., Fenno, L. E., Davidson, T. J., Wright, M., et al. (2017) · Science Translational Medicine · doi:10.1126/scitranslmed.aah6733 · Cited by 326
Metadata
- Authors
- Fatemi, S. H., Reutiman, T. J., Folsom, T. D., Rooney, R. J., Patel, D. H., & Thuras, P. D.
- Affiliations
- University of Minnesota (US)
- Corresponding author
- Fatemi, S. Hossein
- Venue
- Journal of Autism and Developmental Disorders
- Published
- 2010-01-12
- Volume
- 40
- Issue
- 6
- Pages
- 743-750
- ISSN
- 0162-3257 (ISSN-L)
- 1573-3432
- PMC
- PMC2865581
- OpenAlex
- W2005822031
- Cited by
- 182
- References
- 44
- Citations by year
- 2026: 5 · 2025: 2 · 2024: 7 · 2023: 11 · 2022: 12 · 2021: 7 · 2020: 9 · 2019: 9 · 2018: 5 · 2017: 13 · 2016: 14 · 2015: 16 · 2014: 16 · 2013: 20 · 2012: 14
- FWCI
- 10.86
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Autism and Developmental Disorders (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Parkinson Foundation
- Parkinson's Foundation
- National Institutes of Health
- National Institute of Mental Health (R24MH068855)
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD052074)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, GABAA receptor, GABAB receptors, GABBR1, gene expression, mRNA levels, protein abundance, GABAergic neurotransmission, superior frontal cortex, cerebellum
- MeSH terms
- Adult, Autistic Disorder, Brain Chemistry, Cerebellum, Electrophoresis, Polyacrylamide Gel, Female, Humans, Male, Middle Aged, Receptors, GABA-A, RNA, Messenger, Blotting, Western, Receptors, GABA-B, Reverse Transcriptase Polymerase Chain Reaction, Young Adult
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