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Article

siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells.

Human molecular genetics - 15 May 2008

Hewett Jeffrey W, Nery Flávia C, Niland Brian, Ge Pei, Tan Pamela, Hadwiger Philipp, Tannous Bakhos A, Sah Dinah W Y, Breakefield Xandra O

Abstract excerpt

Most cases of the dominantly inherited movement disorder, early onset torsion dystonia (DYT1) are caused by a mutant form of torsinA lacking a glutamic acid residue in the C-terminal region (torsinADeltaE). TorsinA is an AAA+ protein located predominantly in the lumen of the endoplasmic reticulum (ER) and nuclear envelope apparently involved in membrane structure/movement and processing of proteins through the...

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Identifiers

PMID: 18258738
DOI: 10.1093/hmg/ddn032
PMCID: PMC2861568

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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