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DNA Methylation of α-Synuclein Intron 1 Is Significantly Decreased in the Frontal Cortex of Parkinson’s Individuals with GBA1 Mutations [PDF]

International Journal of Molecular Sciences, 2023
Parkinson’s disease (PD) is a common movement disorder, estimated to affect 4% of individuals by the age of 80. Mutations in the glucocerebrosidase 1 (GBA1) gene represent the most common genetic risk factor for PD, with at least 7–10% of non-Ashkenazi ...
Adam R Smith, David M Richards, Katie Lunnon   +2 more
exaly   +1 more source

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EXPRESSION OF AUTOPHAGY-RELATED GENES IN GBA1 MUTATIONS CARRIERS WITH AND WITHOUT PARKINSON’S DISEASE

X Международная конференция молодых ученых: биоинформатиков, биотехнологов, биофизиков, вирусологов и молекулярных биологов — 2023: Cб. тез., 2023
The molecular mechanisms of the neurodegenerative disease, Parkinson’s disease (PD), associated with mutations in the GBA1 gene (GBA-PD) are unknown. Recent data point to the role of autophagy, in particular of the PI3K/AKT/mTOR pathway, in PD pathogenesis.
A.I. Bezrukova, K.S. Basharova, I.V. Miliukhina, S.N. Pchelina, T.S. Usenko   +4 more
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Autophagy Process in Parkinson’s Disease Depends on Mutations in the GBA1 and LRRK2 Genes

Biochemical Genetics
Parkinson's disease (PD) is a common neurodegenerative disorder characterized by the loss of dopaminergic neurons and abnormal aggregation of the alpha-synuclein protein. Disruption of the autophagy-lysosomal pathway is closely associated with PD pathogenesis.
A I, Bezrukova, K S, Basharova, A K, Emelyanov, A V, Rybakov, I V, Miliukhina, S N, Pchelina, T S, Usenko   +6 more
openaire   +2 more sources

Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients

Blood Cells, Molecules, and Diseases, 2018
Gaucher disease (GD) is caused by the deficient activity of β-glucocerebrosidase due to pathogenic mutations in the GBA1. This gene has a pseudogene (GBAP) with 96% of sequence homology. Recombination (Rec) events in the GBA1 seem to be facilitated by an increased degree of homology and proximity to the GBAP.
Suelen P, Basgalupp, Marina, Siebert, Filippo Pinto E, Vairo, Anisse Marques, Chami, Louise Lapagesse de Camargo, Pinto, Gerson da S, Carvalho, Ida Vanessa D, Schwartz   +6 more
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MTOR-A POTENTIAL THERAPEUTIC TARGET FOR PARKINSON’S DISEASE WITH MUTATIONS IN THE GBA1 GENE

XI Международная конференция молодых ученых: биоинформатиков, биотехнологов, биофизиков, вирусологов, молекулярных биологов и специалистов фундаментальной медицины — 2024 : сб. тез.
The molecular mechanisms of the neurodegenerative disorder Parkinson’s disease (PD) associated with mutations in the GBA1 gene which encodes the lysosomal enzyme glucocerebrosidase (GCase) gene, (GBA1-PD) are unknown. Transcriptome analysis of cellular and animal models with induced parkinsonism and GCase dysfunction, followed by subsequent validation,
A.I. Bezrukova, K.S. Basharova, M.M. Rudenok, G.V. Baydakova, I.V. Miliukhina, E.Y. Zakharova, P.A. Slominsky, S.N. Pchelina, T.S. Usenko   +8 more
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A Global Perspective of GBA1-Related Parkinson’s Disease: A Narrative Review

Genes
Parkinson’s disease (PD) is considered to be the second most prominent neurodegenerative disease and has a global prevalence. Glucocerebrosidase (GBA1) gene mutations represent a significant hereditary risk factor for the development of PD and have a ...
Christos Koros, Anastasia Bougea, Athina-Maria Simitsi   +2 more
exaly   +1 more source

Safety and activity of gene therapy with AAV8 GBA1 (LY-M001)on type I adults gaucher disease

Blood
Abstract Background: Gaucher disease (GD) is a rare autosomal recessive disorder caused by GBA1 mutations, leading to deficient glucocerebrosidase (GCase) activity and accumulation of glucosylceramide (GlcCer) and glucosylsphingosine (Lyso-GL1), resulting in multisystemic involvement.
Yishan Ye, Xueping Luo, Jingwen Li, Yixiong Chen, Qin Lin, He Huang, Weiyan Zheng   +6 more
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Mutations in the GBA1 gene in Spanish population with Parkinson disease and plasma miRNA

Molecular Genetics and Metabolism, 2016
Pilar Alfonso, Javier Gervas, Beatriz Garcia-Rodriguez, Jose-Luis Capablo, Miguel Pocovi, Pilar Giraldo   +5 more
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GBA1 Gene Mutations in α-Synucleinopathies—Molecular Mechanisms Underlying Pathology and Their Clinical Significance

International Journal of Molecular Sciences, 2023
Zuzanna Granek, Julia Barczuk, Natalia Siwecka   +2 more
exaly