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

Cascalho, A; Foroozandeh, J; Hennebel, L; Swerts, J; Klein, C; Rous, S; Gonzalez, BD; Pisani, A; Meringolo, M; Gallego, SF; Verstreken, P; Seibler, P; Goodchild, RE

Goodchild, RE (corresponding author), VIB KU Leuven Ctr Brain & Dis Res, Leuven, Belgium.

BRAIN, 2020; 143 (): 1746

Abstract

TOR1A/TorsinA mutations cause two incurable diseases: a recessive congenital syndrome that can be lethal, and a dominantly-inherited childhood-onset d......

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