Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course
N Tayebi, L Parisiadou, B Berhe, AN Gonzalez… - Molecular genetics and …, 2017 - Elsevier
Mutations in GBA1 encountered in Gaucher disease are a leading risk factor for Parkinson
disease and associated Lewy body disorders. Many GBA1 mutation carriers, especially
those with severe or null GBA1 alleles, have earlier and more progressive parkinsonism. To
model the effect of partial glucocerebrosidase deficiency on neurological progression in
vivo, mice with a human A53T α-synuclein (SNCA A53T) transgene were crossed with
heterozygous null gba mice (gba+/−). Survival analysis of 84 mice showed that in …
disease and associated Lewy body disorders. Many GBA1 mutation carriers, especially
those with severe or null GBA1 alleles, have earlier and more progressive parkinsonism. To
model the effect of partial glucocerebrosidase deficiency on neurological progression in
vivo, mice with a human A53T α-synuclein (SNCA A53T) transgene were crossed with
heterozygous null gba mice (gba+/−). Survival analysis of 84 mice showed that in …