Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis...
Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia
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England: eLife Sciences Publications Ltd
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English
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England: eLife Sciences Publications Ltd
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The most common cause of early onset primary dystonia, a neuromuscular disease, is a glutamate deletion (ΔE) at position 302/303 of TorsinA, a AAA+ ATPase that resides in the endoplasmic reticulum. While the function of TorsinA remains elusive, the ΔE mutation is known to diminish binding of two TorsinA ATPase activators: lamina-associated protein...
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Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia
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TN_cdi_doaj_primary_oai_doaj_org_article_590bf7627f754e85bd29c6686a901af3
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_590bf7627f754e85bd29c6686a901af3
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ISSN
2050-084X
E-ISSN
2050-084X
DOI
10.7554/eLife.17983
