Discovering significant breakthroughs in fibrosis.
ORPHAN POLY-Q NEURODEGENERATIVE DISEASE (POLY-Q DISEASES)
Cell/tissue damage response pathways play a role in the nervous system, notably in several rare progressive neuro-degenerative diseases such as Huntington’s, Machado-Joseph, and Lewy Body. Poly-Q diseases are a family of currently incurable and mostly autosomal dominant neurodegenerative diseases. These diseases result from mutations causing expansion of trinucleotide (CAG) repeat region of genes. Calpains are known to inhibit autophagy by clearing key proteins that are burdened by toxic gain-of-function and aggregation properties believed to lead to disease.
Weber, 2014, Biomed Res Intl. 2014: 701758.
Menzies, 2015, Cell Death Differ. 22(3): 433–444.