Ferguson-Bonni neurodevelopmental syndrome (FERBON) is an autosomal recessive intellectual disability syndrome caused by mutations in ANAPC7. ANAPC7 encodes APC7, a core component of the E3 ubiquitin ligase anaphase promoting complex. It has been suggested that APC7 is required for the development of the mammalian brain.
Ferguson CJ, Urso O, Bodrug T, Gassaway BM, Watson ER, Prabu JR, Lara-Gonzalez P, Martinez-Chacin RC, Wu DY, Brigatti KW, Puffenberger EG, Taylor CM, Haas-Givler B, Jinks RN, Strauss KA, Desai A, Gabel HW, Gygi SP, Schulman BA, Brown NG, Bonni A
タイトル
APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
