Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S <i>GBA</i> Variant Carriers with and without Parkinson’s Disease

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S <i>GBA</i> Variant Carriers with and without Parkinson’s Disease

<i>GBA</i> variants increase the risk of Parkinson’s disease (PD) by 10 times. The <i>GBA</i> gene encodes the lysosomal enzyme glucocerebrosidase (GCase). The p.N370S substitution causes a violation of the enzyme conformation, which affects its stability in the cell. We stud...

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Bibliographic Details
Main Authors: Elena V. Grigor’eva, Alena E. Kopytova, Elena S. Yarkova, Sophia V. Pavlova, Diana A. Sorogina, Anastasia A. Malakhova, Tuyana B. Malankhanova, Galina V. Baydakova, Ekaterina Y. Zakharova, Sergey P. Medvedev, Sofia N. Pchelina, Suren M. Zakian
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:International Journal of Molecular Sciences
Subjects:
induced pluripotent stem cells
neural differentiation
dopaminergic neurons
glucocerebrosidase
mutation in the <i>GBA</i> gene
asymptomatic mutation carrier
Online Access:https://www.mdpi.com/1422-0067/24/5/4437

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https://www.mdpi.com/1422-0067/24/5/4437

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