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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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Main Authors: Hughes, James, Piltz, Sandra, Rogers, Nicholas, McAninch, Dale, Rowley, Lynn, Thomas, Paul
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2013
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3591313/
https://ncbi.nlm.nih.gov/pubmed/23505376
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003290
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