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

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...

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Detalles Bibliográficos
Autores principales: Mitchell, Sara B., Iwabuchi, Sadahiro, Kawano, Hiroyuki, Yuen, Tsun Ming Tom, Koh, Jin-Young, Ho, K. W. David, Harata, N. Charles
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221310/
https://www.ncbi.nlm.nih.gov/pubmed/30403723
http://dx.doi.org/10.1371/journal.pone.0206123

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221310/
https://www.ncbi.nlm.nih.gov/pubmed/30403723
http://dx.doi.org/10.1371/journal.pone.0206123

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