The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

• Ngā kaituhi matua: Qi Liu (Author), Zongrui Shen (Author), Hong Pan (Author), Shunfei Ma (Author), Fu Xiong (Author), Fei He (Author)
• Hōputu: Pukapuka
• I whakaputaina: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

Gaucher disease (GD, ORPHA355) is a rare autosomal recessive genetic disease caused by mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase). Here, we report a patient with GD who carried the heterozygous c.1240G > C (p.Val414Leu) mutation and the heterozygous pathogeni...