Non-synonymous variants in the AMACR gene are associated with schizophrenia.

@article{Bespalova2010NonsynonymousVI,
  title={Non-synonymous variants in the AMACR gene are associated with schizophrenia.},
  author={Irina N. Bespalova and Martina Durner and Benjamin P Ritter and Gary W. Angelo and Enrique Rossy-Fullana and Jos{\'e} R Carri{\'o}n-Baralt and James Schmeidler and Jeremy M. Silverman},
  journal={Schizophrenia research},
  year={2010},
  volume={124 1-3},
  pages={208-15}
}
BACKGROUND The AMACR gene is located in the schizophrenia susceptibility locus on chromosome 5p13, previously identified in a large Puerto Rican pedigree of Spanish origin. The AMACR-encoded protein is an enzyme involved in the metabolism of branched-chain fatty and bile acids. The enzyme deficiency causes structural and functional brain changes, and disturbances in fatty acid and oxidative phosphorylation pathways observed in individuals with schizophrenia. Therefore, AMACR is both a… CONTINUE READING
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Finemapping of the 5p13 locus linked to schizophrenia and schizotypal personality disorder in a Puerto Rican family

  • I. N. Bespalova, G. W. Angelo, +5 authors J. M. Silverman
  • Psychiatr. Genet
  • 2005
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