Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia.

CONCLUSIONS: TorsinA with S287Y damages the structure of the cell nucleus and may be a novel pathogenic mutation that causes isolated dystonia.
PMID: 32243914 [PubMed - as supplied by publisher]

Source: Neurobiology of Disease - March 30, 2020 Category: Neurology Authors: Xu L, Yang Z, Li W, Luo Z, Zhang C, Huang X, Ma S, Long Y, Chu Y, Qian Y, Wang X, Sun H Tags: Neurobiol Dis Source Type: research