- Huntingtin: here, there, everywhere!
Huntingtin: here, there, everywhere!
Journal of Huntington's disease (2013-01-01)
Cristovao Marques Sousa, Sandrine Humbert
PMID25062728
要旨
Huntingtin is the protein mutated in Huntington disease, a dominant inherited neurodegenerative disorder. Huntingtin is ubiquitously expressed throughout the body, however its role outside the central nervous system has been overlooked. This review focuses on the peripheral distribution of huntingtin. It also highlights that huntingtin has central cellular functions, the importance of which may extend beyond the nervous system. Because of the breadth of huntingtin expression and functions, mutant huntingtin undoubtedly causes peripheral disturbances and may be involved in other non neuronal pathologies.