Article

Inhibition of Lipin lipid phosphatase hyperactivity rescues TorsinA neurological disease

2019-04-16

Abstract excerpt

TOR1A/TorsinA mutations cause poorly explained neurological diseases. A dominantly inherited mutation causes isolated dystonia, while biallelic mutations cause a recessive infant-onset syndrome with cases of lethality. Here we report an unexpected connection between lipid metabolism and these diseases. Lipin phosphatidic acid phosphatase activity was abnormally regulated in TorsinA dystonia patient cells, and in t...

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Literature Corpus work: 5ba921d2-f749-56db-9ee7-3e7e2959e2cb
DOI: 10.1101/606947

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