Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism
نویسندگان
چکیده
منابع مشابه
Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.
Polyalanine expansion mutations have been identified in eight transcription factors that are associated with a range of congenital disorders. While some of these mutant proteins have been shown to generate cellular aggregates in heterologous cell lines, little is known about the mechanism by which these aggregates cause disease. Here we examine the aggregation and functional properties of the t...
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ژورنال
عنوان ژورنال: Molecular Endocrinology
سال: 2011
ISSN: 0888-8809,1944-9917
DOI: 10.1210/mend.25.3.zmg546