Ariel Chaklai, Abigail O'Neil, Shrey Goel, Nick Margolies, Destine Krenik, Ruby Perez, Kat Kessler, Elizabeth Staltontall, Hong Ki Eric Yoon, Montzerrat Pantoja, Keaton Stagaman, Kristin Kasschau, Vivek Unni, Robert Duvoisin, Thomas Sharpton, Jacob Raber
Heterozygous carriers of the glucocerebrosidase 1 (GBA) L444P Gaucher mutation have an increased risk of developing Parkinson's disease (PD). The GBA mutations result in elevated alpha synuclein (aSyn) levels. Heterozygous mice carrying one allele with the L444P mutation knocked-into the mouse gene show increased aSyn levels and are more sensitive to motor deficits following exposure to the neurotoxin (1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine) MPTP than wild-type mice. Paraquat (PQ), a herbicide, increases PD risk in most studies...
February 23, 2024: Genes