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Article

Excess Lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia.

Brain : a journal of neurology - 1 Jun 2020

Cascalho Ana, Foroozandeh Joyce, Hennebel Lise, Swerts Jef, Klein Christine, Rous Stef, Dominguez Gonzalez Beatriz, Pisani Antonio, Meringolo Maria, Gallego Sandra F, Verstreken Patrik, Seibler Philip, Goodchild Rose E

Abstract excerpt

TOR1A/TorsinA mutations cause two incurable diseases: a recessive congenital syndrome that can be lethal, and a dominantly-inherited childhood-onset dystonia (DYT-TOR1A). TorsinA has been linked to phosphatidic acid lipid metabolism in Drosophila melanogaster. Here we evaluate the role of phosphatidic acid phosphatase (PAP) enzymes in TOR1A diseases using induced pluripotent stem cell-derived neurons from...

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PMID: 32516804
DOI: 10.1093/brain/awaa139

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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