Article
Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A.
Cell reports - 24 Dec 2019
Marchesin Valentina, Pérez-Martí Albert, Le Meur Gwenn, Pichler Roman, Grand Kelli, Klootwijk Enriko D, Kesselheim Anne, Kleta Robert, Lienkamp Soeren, Simons Matias
Abstract excerpt
HNF4A is a nuclear hormone receptor that binds DNA as an obligate homodimer. While all known human heterozygous mutations are associated with the autosomal-dominant diabetes form MODY1, one particular mutation (p.R85W) in the DNA-binding domain (DBD) causes additional renal Fanconi syndrome (FRTS). Here, we find that expression of the conserved fly ortholog dHNF4 harboring the FRTS mutation in Drosophila...
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