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Mechanistic Insight into the Pathology of Polyalanine Expansion Disorders Revealed by a Mouse Model for X Linked Hypopituitarism

Polyalanine expansions in transcription factors have been associated with eight distinct congenital human diseases. It is thought that in each case the polyalanine expansion causes misfolding of the protein that abrogates protein function. Misfolded proteins form aggregates when expressed in vitro;...

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Detalles Bibliográficos
Autores principales: Hughes, James, Piltz, Sandra, Rogers, Nicholas, McAninch, Dale, Rowley, Lynn, Thomas, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591313/
https://www.ncbi.nlm.nih.gov/pubmed/23505376
http://dx.doi.org/10.1371/journal.pgen.1003290