Huntington's Disease: Mechanisms of Pathogenesis and Therapeutic Strategies.
Accepted version
Peer-reviewed
Repository URI
Repository DOI
Change log
Authors
Jimenez-Sanchez, Maria
Licitra, Floriana
Underwood, Benjamin R
Rubinsztein, David C
Abstract
Huntington's disease is a late-onset neurodegenerative disease caused by a CAG trinucleotide repeat in the gene encoding the huntingtin protein. Despite its well-defined genetic origin, the molecular and cellular mechanisms underlying the disease are unclear and complex. Here, we review some of the currently known functions of the wild-type huntingtin protein and discuss the deleterious effects that arise from the expansion of the CAG repeats, which are translated into an abnormally long polyglutamine tract. Finally, we outline some of the therapeutic strategies that are currently being pursued to slow down the disease.
Description
Keywords
Gene Expression Regulation, Humans, Huntingtin Protein, Huntington Disease, Nerve Tissue Proteins, Nuclear Proteins, Trinucleotide Repeats
Journal Title
Cold Spring Harb Perspect Med
Conference Name
Journal ISSN
2157-1422
2157-1422
2157-1422
Volume Title
7
Publisher
Cold Spring Harbor Laboratory
Publisher DOI
Sponsorship
Medical Research Council (MC_G1000734)