Article
Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.
PloS one - 1 Jan 2014
Malikova Jana, Camats Núria, Fernández-Cancio Mónica, Heath Karen, González Isabel, Caimarí María, del Campo Miguel, Albisu Marian, Kolouskova Stanislava, Audí Laura, Flück Christa E
Abstract excerpt
CONTEXT: Human NR5A1/SF-1 mutations cause 46,XY disorder of sex development (DSD) with broad phenotypic variability, and rarely cause adrenal insufficiency although SF-1 is an important transcription factor for many genes involved in steroidogenesis. In addition, the Sf-1 knockout mouse develops obesity with age. Obesity might be mediated through Sf-1 regulating activity of brain-derived neurotrophic factor...
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