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

GBA variants increase the risk of Parkinson’s disease (PD) by 10 times. The GBA 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 studied the biochemical characteristics of...

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Detalles Bibliográficos
Autores principales: Grigor’eva, Elena V., Kopytova, Alena E., Yarkova, Elena S., Pavlova, Sophia V., Sorogina, Diana A., Malakhova, Anastasia A., Malankhanova, Tuyana B., Baydakova, Galina V., Zakharova, Ekaterina Y., Medvedev, Sergey P., Pchelina, Sofia N., Zakian, Suren M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10002967/
https://www.ncbi.nlm.nih.gov/pubmed/36901867
http://dx.doi.org/10.3390/ijms24054437