Title |
Protein signatures of oxidative stress response in a patient specific cell line model for autism
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Published in |
Molecular Autism, February 2014
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DOI | 10.1186/2040-2392-5-10 |
Pubmed ID | |
Authors |
Andreas G Chiocchetti, Denise Haslinger, Maximilian Boesch, Thomas Karl, Stefan Wiemann, Christine M Freitag, Fritz Poustka, Burghardt Scheibe, Johann W Bauer, Helmut Hintner, Michael Breitenbach, Josef Kellermann, Friedrich Lottspeich, Sabine M Klauck, Lore Breitenbach-Koller |
Abstract |
Known genetic variants can account for 10% to 20% of all cases with autism spectrum disorders (ASD). Overlapping cellular pathomechanisms common to neurons of the central nervous system (CNS) and in tissues of peripheral organs, such as immune dysregulation, oxidative stress and dysfunctions in mitochondrial and protein synthesis metabolism, were suggested to support the wide spectrum of ASD on unifying disease phenotype. Here, we studied in patient-derived lymphoblastoid cell lines (LCLs) how an ASD-specific mutation in ribosomal protein RPL10 (RPL10[H213Q]) generates a distinct protein signature. We compared the RPL10[H213Q] expression pattern to expression patterns derived from unrelated ASD patients without RPL10[H213Q] mutation. In addition, a yeast rpl10 deficiency model served in a proof-of-principle study to test for alterations in protein patterns in response to oxidative stress. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 25% |
United Kingdom | 1 | 25% |
Unknown | 2 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 50% |
Practitioners (doctors, other healthcare professionals) | 1 | 25% |
Science communicators (journalists, bloggers, editors) | 1 | 25% |
Mendeley readers
Geographical breakdown
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United States | 1 | 2% |
Austria | 1 | 2% |
Unknown | 63 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 15 | 23% |
Student > Ph. D. Student | 11 | 17% |
Student > Master | 10 | 15% |
Student > Doctoral Student | 4 | 6% |
Student > Postgraduate | 4 | 6% |
Other | 14 | 22% |
Unknown | 7 | 11% |
Readers by discipline | Count | As % |
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Agricultural and Biological Sciences | 15 | 23% |
Psychology | 8 | 12% |
Medicine and Dentistry | 5 | 8% |
Neuroscience | 3 | 5% |
Other | 8 | 12% |
Unknown | 11 | 17% |