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Table 2 Cell and animal models used in GBA mutation studies

From: Cross-talks among GBA mutations, glucocerebrosidase, and α-synuclein in GBA-associated Parkinson’s disease and their targeted therapeutic approaches: a comprehensive review

Model Model characteristics Reference
Fibroblasts of patients Carriers of heterozygous GBA mutations without or with PD [102]
Fibroblasts of PD patients Heterozygous GBA L444P and N370S mutations [103]
Dopaminergic neurons derived from iPSC (patient midbrain) Carriers of heterozygous GBA variant N370S in twins discordant for PD. [104]
Mouse model Heterozygous GBA variant L444P [105]
SH-SY5Y cells (human α-synuclein) siRNA knockdown of GBA [106]
Mouse GBA knockout [107]
Mouse GBA point mutations (D409H, N370S, D409V, and V394L) [108]
Zebrafish Deletion of 23 bp GBA [109]
Mouse GBA L444P mutation + α-synuclein A53T mutation [90]
NSC and dopaminergic cells derived from the iPSC and fibroblasts of patients Heterozygous GBA N370S mutations [110]
Embryonic fibroblasts from mice GBA heterozygous mutation [111]
  1. ER endoplasmic reticulum; GCase glucocerebrosidase; LIMP2 lysosomal integral membrane protein-2