Teresa V. Naismith

Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier (2006)

Kock, Norman, Naismith, Teresa V., Boston, Heather E., Ozelius, Laurie J., Corey, David P., Breakefield, Xandra O., ...

Four naturally occurring sequence variations have been found in the coding region of the DYT1 gene encoding torsinA. One of these, a 3 bp (ΔGAG) deletion, underlies dominantly inherited cases...

Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier (2006)

Kock, Norman, Naismith, Teresa V., Boston, Heather E., Ozelius, Laurie J., Corey, David P., Breakefield, Xandra O., ...

Four naturally occurring sequence variations have been found in the coding region of the DYT1 gene encoding torsinA. One of these, a three base pair (ΔGAG) deletion, underlies dominantly inherited...

TorsinA in the nuclear envelope

Naismith, Teresa V., Heuser, John E., Breakefield, Xandra O., Hanson, Phyllis I.

Early-onset torsion dystonia, a CNS-based movement disorder, is usually associated with a single amino acid deletion (ΔE302/303) in the protein torsinA. TorsinA is an AAA+ ATPase in the endoplasmic...

TorsinA in the nuclear envelope

Naismith, Teresa V., Heuser, John E., Breakefield, Xandra O., Hanson, Phyllis I.

Early-onset torsion dystonia, a CNS-based movement disorder, is usually associated with a single amino acid deletion (ΔE302/303) in the protein torsinA. TorsinA is an AAA+ ATPase in the endoplasmic...

LULL1 Retargets TorsinA to the Nuclear Envelope Revealing an Activity That Is Impaired by the DYT1 Dystonia Mutation

Vander Heyden, Abigail B., Naismith, Teresa V., Snapp, Erik L., Hodzic, Didier, Hanson, Phyllis I.

TorsinA (TorA) is an AAA+ ATPase in the endoplasmic reticulum (ER) lumen that is mutated in early onset DYT1 dystonia. TorA is an essential protein in mice and is thought to function in the nuclear...