BACKGROUND The forkhead transcription factor Foxo3 is a master regulator and potent suppressor of primordial follicle activation. Loss of Foxo3 function in the mouse leads to premature ovarian failure (POF) due to global follicle activation. METHODS AND RESULTS Here, we show that the mouse Foxo3 locus is haploinsufficient, and that Foxo3-/+ females… (More)
The hereditary spastic paraplegias (HSPs) are a genetically heterogeneous group of disorders characterised by progressive corticospinal tract degeneration and the development of lower limb spasticity [1, 2]. Autoso-mal-dominant HSP is the most commonly inherited form of the disease and in this group, SPG4 mutations account for *40 % of cases . The SPG4… (More)
There is unfortunately a mistake in the protein notation for one of the SPG4 mutations in Table 1. The c.1253_1255 delAAG mutation was identified in Patient 5. The amino acid change resulting from this deletion is p.Glu418del, not p.E418fsX198. The correct table is given in the following page.