Results 31 to 40 of about 4,639 (191)

Molecular mechanisms of α-synuclein and GBA1 in Parkinson’s disease [PDF]

Cell and Tissue Research, 2017
Parkinson's disease (PD) is a neurodegenerative movement disorder characterized pathologically by the presence of Lewy bodies comprised of insoluble alpha (α)-synuclein. Pathological, clinical and genetic studies demonstrate that mutations in the GBA1 gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase) that is deficient in Gaucher's ...
Iva, Stojkovska, Dimitri, Krainc, Joseph R, Mazzulli   +2 more
openaire   +2 more sources

D409H GBA1 mutation accelerates the progression of pathology in A53T α-synuclein transgenic mouse model

Acta Neuropathologica Communications, 2018
Heterozygous mutations in glucocerebrosidase 1 (GBA1) are a major genetic risk factor for Parkinson’s disease and Dementia with Lewy bodies. Mutations in GBA1 leads to GBA1 enzyme deficiency, and GBA1-associated parkinsonism has an earlier age of onset ...
Donghoon Kim, Heehong Hwang, Seulah Choi, Sang Ho Kwon, Suhyun Lee, Jae Hong Park, SangMin Kim, Han Seok Ko   +7 more
doaj   +1 more source

Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation

Frontiers in Genetics, 2022
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, which produces the glucocerebrosidase (GCase) protein. There are more than 500 mutations reported in GBA1, among which L444P (p.Leu444Pro) and
Jia-ni Guo, Jia-ni Guo, Ming Guan, Nan Jiang, Na Li, Ya-jun Li, Jin Zhang, Duan Ma, Duan Ma   +8 more
doaj   +1 more source

GBA1-dependent membrane glucosylceramide reprogramming promotes liver cancer metastasis via activation of the Wnt/β-catenin signalling pathway

Cell Death and Disease, 2022
The effect of glucosylceramide (GlcCer) reprogramming on liver cancer metastasis remains poorly understood. In this study, we demonstrated that the protein expression of GBA1, which catalyses the conversion of GlcCer to ceramide, was downregulated in ...
Zhidong Qiu, Xuehong Wang, Zebin Yang, Sicong Liao, Wei Dong, Tian Sun, Huixian Wu, Qinqin Zhang, Zhixiong Pan, Sin Man Lam, Guanghou Shui, Junfei Jin   +11 more
doaj   +1 more source

Behavioral Phenotyping in a Murine Model of GBA1-Associated Parkinson Disease [PDF]

International Journal of Molecular Sciences, 2021
Mutations in GBA1, the gene encoding glucocerebrosidase, are common genetic risk factors for Parkinson disease (PD). While the mechanism underlying this relationship is unclear, patients with GBA1-associated PD often have an earlier onset and faster progression than idiopathic PD.
Jenny Do, Gani Perez, Bahafta Berhe, Nahid Tayebi, Ellen Sidransky   +4 more
openaire   +2 more sources

Loss of Lipid Carrier ApoE Exacerbates Brain Glial and Inflammatory Responses after Lysosomal GBA1 Inhibition

Cells, 2023
Tightly regulated and highly adaptive lipid metabolic and transport pathways are critical to maintaining brain cellular lipid homeostasis and responding to lipid and inflammatory stress to preserve brain function and health.
Kyle J. Connolly, Juliette Margaria, Erika Di Biase, Oliver Cooper, Penelope J. Hallett, Ole Isacson   +5 more
doaj   +1 more source

Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload [PDF]

, 2019
Heterozygous mutations of the lysosomal enzyme glucocerebrosidase (GBA1) represent the major genetic risk for Parkinson's disease (PD), while homozygous GBA1 mutations cause Gaucher disease, a lysosomal storage disorder, which may involve severe ...
Szabadkai, G, Massaro, G, Bhosale, G, Plotegher, N, Zambon, F, Duchen, M.R, Guella, G, Rahim, A.A, Waddington, S.N, Ferrazza, R, Perocheau, D   +10 more
core   +1 more source

Tool compounds robustly increase turnover of an artificial substrate by glucocerebrosidase in human brain lysates. [PDF]

PLoS ONE, 2015
Mutations in glucocerebrosidase (GBA1) cause Gaucher disease and also represent a common risk factor for Parkinson's disease and Dementia with Lewy bodies. Recently, new tool molecules were described which can increase turnover of an artificial substrate
Zdenek Berger, Sarah Perkins, Claude Ambroise, Christine Oborski, Matthew Calabrese, Stephen Noell, David Riddell, Warren D Hirst   +7 more
doaj   +1 more source

Epigenomic profile of GBA1 in Parkinson's disease

Parkinsonism & Related Disorders
While genome-wide association studies have identified GBA1 as a key gene contributing to disease severity and cognitive decline in PD, its molecular effects remain poorly understood.We used integrative bulk ATAC-seq across six brain regions from autopsied individuals with PD and varying genetic risk to characterize region- and cell type-specific ...
Eloise Berson, Raphael Zaghroun, Matteo Santoro, Syed Bukhari, David Seong, Chi-Hung Shu, Amalia Perna, Tomin James, Kathleen S. Montine, Geidy E. Serrano, Thomas G. Beach, C. Dirk Keene, Howard Y. Chang, M. Ryan Corces, Brenna Cholerton, Nima Aghaeepour, Thomas J. Montine   +16 more
openaire   +3 more sources

Evolution and clustering of prodromal parkinsonian features in GBA1 carriers [PDF]

Movement Disorders, 2019
AbstractBackgroundFive to 25% of patients with PD carry glucocerebrosidase gene mutations, and 10% to 30% of glucocerebrosidase carriers will develop PD by age 80. Stratification of PD risk in glucocerebrosidase carriers provides an opportunity to target disease‐modifying therapies.ObjectiveCross‐sectional and longitudinal survey of prodromal PD signs ...
Mullin, S, Beavan, M, Bestwick, J, McNeill, A, Proukakis, C, Cox, T, Hughes, D, Mehta, A, Zetterberg, H, Schapira, AHV   +9 more
openaire   +4 more sources