Proceedings of the 23rd Annual Meeting of the Portuguese Society of Human Genetics

2020 Medicine  
#, * These authors contributed equally. Aims/Context: Machado-Joseph Disease (MJD) is a neurodegenerative disease associated with extensive neuronal death. Defects in brain cholesterol metabolism may contribute to neurodegenerative diseases. Brain cholesterol is almost exclusively synthesized in situ and cannot cross the blood-brainbarrier. To maintain the cholesterol homeostasis, superfluous cholesterol is converted into 24S-hydroxycholesterol by the neuronal enzyme cholesterol 24-hydroxylase
more » ... rol 24-hydroxylase (CYP46A1). The present work evaluated i) whether CYP46A1 levels are reduced in
doi:10.1097/md.0000000000019291 fatcat:c25bb4rhefghdmrnnaw2n6uidm