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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