Article

Lipid metabolic stress in development defines which genetically-susceptible DYT- <i>TOR1A</i> mice develop disease

2020-03-18

Abstract excerpt

<h4>Summary</h4> There has been enormous progress defining the genetic landscape of disease. However, genotypes rarely fully predict neurological phenotypes, and we rarely understand why. TOR1A +/Δgag that causes dystonia with ~30% penetrance is a classic case. Here we show, in inbred mice, that +/Δgag affects embryonic brain lipid metabolism with sex-skewed reduced penetrance. Penetrance is affected by environm...

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Literature Corpus work: 72131d16-7d8f-5417-9c6d-7c4ebe308363
DOI: 10.1101/2020.03.18.997247

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