A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme

Recently, by whole exome sequencing of schizophrenia (SCZ) patients, we identified a subject that was homozygous for a novel missense substitution (c.391 A > G) in the glutamate acid decarboxylase 1 (GAD1) gene. GAD1 encodes for GAD67 enzyme, catalyzing the production of gamma-aminobutyric acid (...

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發表在:Sci Rep
Main Authors: Magri, Chiara, Giacopuzzi, Edoardo, La Via, Luca, Bonini, Daniela, Ravasio, Viola, Elhussiny, Mohammed E. A., Orizio, Flavia, Gangemi, Fabrizio, Valsecchi, Paolo, Bresciani, Roberto, Barbon, Alessandro, Vita, Antonio, Gennarelli, Massimo
格式: Artigo
語言:Inglês
出版: Nature Publishing Group UK 2018
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6195539/
https://ncbi.nlm.nih.gov/pubmed/30341396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-33924-8
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