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

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 phosphatid...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2020-06, Vol.143 (6), p.1746-1765
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Brain - pathology Disease Models, Animal Dystonia - genetics Dystonia - metabolism Female Humans Male Mice Mice, Inbred C57BL Mice, Knockout Molecular Chaperones - genetics Molecular Chaperones - metabolism Mutation Neurons - metabolism Phosphatidate Phosphatase - genetics Phosphatidate Phosphatase - metabolism Phosphatidate Phosphatase - physiology
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