A Novel PGC-1α Isoform in Brain Localizes to Mitochondria and Associates with PINK1 and VDAC. Joungil Choi, Vera Venkatanaresh Kumar Batchu, Manfred Schubert, Rudolph J. Castellani, James W. Russell. Biochemical and Biophysical Research Communications, Available online 17 May 2013.
Down-regulation of PGC-1α is associated with mitochondrial dysfunction and impaired lipid metabolism in obesity and diabetes both of which increases the risk of neurodegenerative diseases. Down-regulation of PGC-1α also have been reported in Friedreich's ataxia.