Article
Analysis of mitochondrial targeting sequence and coding region polymorphisms of the manganese superoxide dismutase gene in German Parkinson disease patients.
Biochemical and biophysical research communications - 24 Feb 1999
Grasbon-Frodl E M, Kösel S, Riess O, Müller U, Mehraein P, Graeber M B
Abstract excerpt
Two polymorphisms of the MnSOD gene, Ile58Thr and Ala9Val, have been associated with Parkinson disease (PD). The Ile58Thr amino acid exchange affects the stability at the tetrameric interface of the enzyme and reduces the enzymatic activity of MnSOD while the Ala/Val substitution at position -9 of the mitochondrial targeting sequence (MTS) may lead to misdirected intracellular trafficking. We have analyzed 63...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.