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

Autor: 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.

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 mel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::88e4ae19eb6f7f4a8d593606f8c3e472

Excess LINC complexes impair brain morphogenesis in a mouse model of recessive TOR1A disease.

Autor: Dominguez Gonzalez B; VIB & KU Leuven Centre for Brain & Disease Research, Campus Gasthuisberg, 3000 Leuven, Belgium.; Department of Neurosciences, Campus Gasthuisberg, KU Leuven, 3000 Leuven, Belgium., Billion K; VIB & KU Leuven Centre for Brain & Disease Research, Campus Gasthuisberg, 3000 Leuven, Belgium.; Department of Neurosciences, Campus Gasthuisberg, KU Leuven, 3000 Leuven, Belgium., Rous S; VIB & KU Leuven Centre for Brain & Disease Research, Campus Gasthuisberg, 3000 Leuven, Belgium.; Department of Neurosciences, Campus Gasthuisberg, KU Leuven, 3000 Leuven, Belgium., Pavie B; VIB & KU Leuven Centre for Brain & Disease Research, Campus Gasthuisberg, 3000 Leuven, Belgium.; VIB Bio Imaging Core, Campus Gasthuisberg, 3000 Leuven, Belgium., Lange C; DFG-Research Center and Cluster of Excellence for Regenerative Therapies (CRTD), Technische Universität Dresden, Fetscherstr. 105, D-01307, Dresden, Germany., Goodchild R; VIB & KU Leuven Centre for Brain & Disease Research, Campus Gasthuisberg, 3000 Leuven, Belgium.; Department of Neurosciences, Campus Gasthuisberg, KU Leuven, 3000 Leuven, Belgium.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2018 Jun 15; Vol. 27 (12), pp. 2154-2170.