Search Results - "Sorogina, Diana A"

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

“…variants increase the risk of Parkinson's disease (PD) by 10 times. The gene encodes the lysosomal enzyme glucocerebrosidase (GCase). The p.N370S substitution…”
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Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson's Disease by Kopytova, Alena E, Rychkov, George N, Cheblokov, Alexander A, Grigor'eva, Elena V, Nikolaev, Mikhail A, Yarkova, Elena S, Sorogina, Diana A, Ibatullin, Farid M, Baydakova, Galina V, Izyumchenko, Artem D, Bogdanova, Daria A, Boitsov, Vitali M, Rybakov, Akim V, Miliukhina, Irina V, Bezrukikh, Vadim A, Salogub, Galina N, Zakharova, Ekaterina Y, Pchelina, Sofya N, Emelyanov, Anton K

“…Mutations in the gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), cause Gaucher disease (GD) and are the most common genetic risk factor for…”
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Generation of induced pluripotent stem cell line, ICGi034-A, by reprogramming peripheral blood mononuclear cells from a patient with Parkinson’s disease associated with GBA mutation by Grigor'eva, Elena V., Drozdova, Elena S., Sorogina, Diana A., Malakhova, Anastasia A., Pavlova, Sofia V., Vyatkin, Yuri V., Khabarova, Elena A., Rzaev, Jamil A., Medvedev, Sergey P., Zakian, Suren M.

“…Mutation in the glucocerebrosidase encoding gene (GBA) is one of the most frequent genetic cause of Parkinson's disease. ICGi034-A induced pluripotent stem…”
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Generation of induced pluripotent stem cell line, ICGi033-A, by reprogramming peripheral blood mononuclear cells from a patient with Huntington's disease by Grigor'eva, Elena V., Malakhova, Anastasia A., Sorogina, Diana A., Pavlova, Sofia V., Malankhanova, Tuyana B., Abramycheva, Natalia Yu, Klyushnikov, Sergey A., Illarioshkin, Sergey N., Zakian, Suren M.

“…Huntington's disease (HD) is a hereditary autosomal dominant neurodegenerative disease caused by the polyglutamine stretch expansion in the huntingtin (HTT)…”
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Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S IGBA/I Variant Carriers with and without Parkinson’s Disease by 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

“…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…”
Get full text