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Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associ...

Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associ...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2130793792

Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a

About this item

Full title

Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a

Publisher

United States: Public Library of Science

Journal title

PloS one, 2018-11, Vol.13 (11), p.e0206123-e0206123

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Autosomal-dominant, early-onset DYT1 dystonia is associated with an in-frame deletion of a glutamic acid codon (ΔE) in the TOR1A gene. The gene product, torsinA, is an evolutionarily conserved AAA+ ATPase. The fact that constitutive secretion from patient fibroblasts is suppressed indicates that the ΔE-torsinA protein influences the cellular secret...

Alternative Titles

Full title

Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_2130793792

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2130793792

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0206123

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