Results 171 to 180 of about 4,309 (206)

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
openaire   +1 more source

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
openaire   +2 more sources

ALTERATION OF BIOCHEMICAL PARAMETERS OF LYSOSOMAL ACTIVITY UPON INHIBITION OF LRRK2 KINASE ACTIVITY IN CELL LINES FROM PATIENTS WITH PARKINSON’S DISEASE ASSOCIATED WITH MUTATIONS IN THE GBA1 GENE

X Международная конференция молодых ученых: биоинформатиков, биотехнологов, биофизиков, вирусологов и молекулярных биологов — 2023: Cб. тез., 2023
The prospect of using LRRK2 inhibitors as treatment strategy for Parkinson’s disease (PD) associated with mutations in the gene GBA1 (GBA-PD), encoding the lysosomal enzyme glucocerebrosidase (GCase) is currently being discussed. We assessed the effectiveness of the LRRK2 kinase activity inhibitor MLi-2 in restoring GCase functions and the effect on ...
K.S. Basharova, A.I. Bezrukova, E.V. Grigor’eva, G.V. Baydakova, S.V. Pavlova, I.V. Miliukhina, S.P. Medvedev, E.Yu. Zakharova, S.N. Pchelina, T.S. Usenko   +9 more
openaire   +1 more source

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
openaire   +1 more source

Synaptic dysfunction and dysregulation of extracellular matrix-related genes in dopaminergic neurons derived from Parkinson’s disease sporadic patients and withGBA1mutations

2023
AbstractParkinson’s disease (PD) is a neurodegenerative disease with both genetic and sporadic origins. In this study, we investigated the electrophysiological properties, synaptic activity, and gene expression differences in dopaminergic (DA) neurons derived from induced pluripotent stem cells (iPSCs) of healthy controls, sporadic PD (sPD) patients ...
Idan Rosh, Utkarsh Tripathi, Yara Hussein, Wote Amelo Rike, Andreea Manole, Diogo Cordeiro, Henry Houlden, Jurgen Winkler, Fred Gage, Shani Stern   +9 more
openaire   +1 more source

The annotation and function of the Parkinson’s and Gaucher disease-linked geneGBA1has been concealed by its protein-coding pseudogeneGBAP1

2022
ABSTRACTThe human genome contains numerous duplicated regions, such as parent-pseudogene pairs, causing sequencing reads to align equally well to either gene. The extent to which this ambiguity complicates transcriptomic analyses is currently unknown. This is concerning as many parent genes have been linked to disease, includingGBA1,causally linked to ...
Emil K. Gustavsson, Siddharth Sethi, Yujing Gao, Jonathan W. Brenton, Sonia García-Ruiz, David Zhang, Raquel Garza, Regina H. Reynolds, James R. Evans, Zhongbo Chen, Melissa Grant-Peters, Hannah Macpherson, Kylie Montgomery, Rhys Dore, Anna I. Wernick, Charles Arber, Selina Wray, Sonia Gandhi, Julian Esselborn, Cornelis Blauwendraat, Christopher H. Douse, Anita Adami, Diahann A.M. Atacho, Antonina Kouli, Annelies Quaegebeur, Roger A. Barker, Elisabet Englund, Frances Platt, Johan Jakobsson, Nicholas W. Wood, Henry Houlden, Harpreet Saini, Carla F. Bento, John Hardy, Mina Ryten   +34 more
openaire   +1 more source

Cancer epigenetics in clinical practice

Ca-A Cancer Journal for Clinicians, 2023
Veronica Davalos, Manel Esteller
exaly