Ziegler 2012 Mitochondrion
| Ziegler CG, Peng M, Falk MJ, Polyak E, Tsika E, Ischiropoulos H, Bakalar D, Blendy JA, Gasser DL (2012) Parkinson's disease-like neuromuscular defects occur in prenyl diphosphate synthase subunit 2 (Pdss2) mutant mice. Mitochondrion 12:248-57. |
Ziegler CG, Peng M, Falk MJ, Polyak E, Tsika E, Ischiropoulos H, Bakalar D, Blendy JA, Gasser DL (2012) Mitochondrion
Abstract: The Pdss2 gene product is needed for the isoprenylation of benzoquinone to generate coenzyme Q (CoQ). A fatal kidney disease occurs in mice that are homozygous for a missense mutation in Pdss2, which can be recapitulated in conditional Pdss2 knockouts targeted to glomerular podocytes. We now report that homozygous missense mutants also demonstrate significant neuromuscular deficits, as validated by behavioral and coordination assays, and these deficits are recapitulated in conditional Pdss2 knockouts targeted to dopaminergic neurons. Both conditional knockout and missense mutant mice demonstrate deficiencies in tyrosine hydroxylase-positive neurons in the substantia nigra, implicating a pathology similar to sporadic Parkinson's disease (PD). • Keywords: Parkinson's disease, Pdss2 knockout
• O2k-Network Lab: US PA Philadelphia Falk MJ
Labels: MiParea: Respiration, Genetic knockout;overexpression
Pathology: Parkinson's
Organism: Mouse Tissue;cell: Nervous system Preparation: Permeabilized tissue
HRR: Oxygraph-2k
