Article
Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course.
Molecular genetics and metabolism - 1 Dec 2017
Tayebi Nahid, Parisiadou Loukia, Berhe Bahafta, Gonzalez Ashley N, Serra-Vinardell Jenny, Tamargo Raphael J, Maniwang Emerson, Sorrentino Zachary, Fujiwara Hideji, Grey Richard J, Hassan Shahzeb, Blech-Hermoni Yotam N, Chen Chuyu, McGlinchey Ryan, Makariou-Pikis Chrissy, Brooks Mieu, Ginns Edward I, Ory Daniel S, Giasson Benoit I, Sidransky Ellen
Abstract excerpt
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 (SNCAA53T) transgene...
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