Results 41 to 50 of about 4,309 (206)

A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene

npj Parkinson's Disease, 2023
Several heterozygous variants of the glucocerebrosidase gene (GBA1) have been reported to increase the risk of Parkinson’s disease (PD) and dementia with Lewy bodies (DLB).
Jussi O. T. Sipilä, Laura Kytövuori, Tuomas Rauramaa, Hugo Rauhamaa, Valtteri Kaasinen, Kari Majamaa   +5 more
doaj   +1 more source

AAV-PHP.B-Mediated Global-Scale Expression in the Mouse Nervous System Enables GBA1 Gene Therapy for Wide Protection from Synucleinopathy [PDF]

Molecular Therapy, 2017
The lack of technology for direct global-scale targeting of the adult mouse nervous system has hindered research on brain processing and dysfunctions. Currently, gene transfer is normally achieved by intraparenchymal viral injections, but these injections target a restricted brain area.
Morabito G, Giannelli SG, Ordazzo G, Bido S, Castoldi V, Indrigo M, Cabassi T, Cattaneo S, Luoni M, Cancellieri C, Sessa A, Bacigaluppi M, Taverna S, Leocani L, Lanciego JL, Broccoli V   +15 more
openaire   +4 more sources

Differential gene expression in cells from Fabry and Gaucher diseases: cell reprogramming and culture aging [PDF]

, 2020
Gene expression varies deeply, even in the same individual’s cells, depending on stress factors, cell aging, gene variants or gene and cell manipulation In this work, gene expression can be seen to shift in many genes, using fibroblasts from donors with
Amaral, Olga, Ribeiro, Diogo, Santos, Renato   +2 more
core  

Bacterial β-Glucosidase Reveals the Structural and Functional Basis of Genetic Defects in Human Glucocerebrosidase 2 (GBA2) [PDF]

, 2016
Human glucosylcerebrosidase 2 (GBA2) of the CAZy family GH116 is responsible for the breakdown of glycosphingolipids on the cytoplasmic face of the endoplasmic reticulum and Golgi apparatus.
Anupong Tankrathok, Chomphunuch Songsiriritthigul, Genji Kurisu, Gideon J. Davies, Hideaki Tanaka, Imogen Breen, James R. Ketudat Cairns, Liang Wu, Matern H., Otwinowski Z., Ratana Charoenwattanasatien, Risa Mutoh, Salila Pengthaisong, Sompong Sansenya, Spencer J. Williams, Yanling Hua   +15 more
core   +3 more sources

A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene

Stem Cell Research, 2022
Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases caused by mutation of glucocerebrosidase (GBA1) gene. GD patients develop symptoms in various organs of the body; however, the underlying mechanisms causing pathology are still elusive.
Tanapat Pornsukjantra, Kitsada Kangboonruang, Pirut Tong-Ngam, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Alisa Tubsuwan, Kanit Bhukhai, Nithi Asavapanumas   +9 more
openaire   +3 more sources

Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models [PDF]

, 2016
GBA gene mutations are the greatest cause of Parkinson disease (PD). GBA encodes the lysosomal enzyme glucocerebrosidase (GCase) but the mechanisms by which loss of GCase contributes to PD remain unclear.
Beavan, M, Chau, K-Y, Gegg, ME, Sanchez-Martinez, A, Schapira, AHV, Whitworth, AJ   +5 more
core   +1 more source

Delineating pathological pathways in a chemically-induced mouse model of Gaucher disease [PDF]

, 2016
Great interest has been shown in understanding the pathology of Gaucher disease (GD), due to the recently discovered genetic relationship with Parkinson's disease. For such studies, suitable animal models of GD are required.
Eilam, R, Futerman, AH, Kenwood, BM, Klein, AD, Massaro, G, Merrill, AH, Meshcheriakova, A, Rahim, AA, Vardi, A, Vitner, EB, Yaacobi, C, Zigdon, H   +11 more
core   +1 more source

Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease [PDF]

, 2018
K
Batta, Gyula, Bozó, Tamás, Kellermayer, Miklós, Kovács, Tamás, Mészár, Zoltán Mihály, Nagy, Péter, Soltész, Lilla, Szöllősi, János   +7 more
core   +2 more sources

Dermal Phospho-Alpha-Synuclein Deposition in Patients With Parkinson's Disease and Mutation of the Glucocerebrosidase Gene

Frontiers in Neurology, 2018
Heterozygous mutations in the glucocerebrosidase gene (GBA1) represent the most common genetic risk factor for Parkinson's disease (PD) and are histopathologically associated with a widespread load of alpha-synuclein in the brain.
Kathrin Doppler, Kathrin Brockmann, Annahita Sedghi, Isabel Wurster, Jens Volkmann, Wolfgang H. Oertel, Claudia Sommer   +6 more
doaj   +1 more source

Generation and characterization of induced pluripotent stem cells from a Parkinson’s disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations

Stem Cell Research, 2023
We describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a Parkinson’s disease (PD) patient carrying the p.G2019S mutation in the LRRK2 gene and the p.N409S mutation in the GBA1 gene.
Christiane Oleksy, François Massart, Stefano Goldwurm, Alessia Arado, Giuseppe Arena, Ibrahim Boussaad, Rejko Krüger   +6 more
doaj   +1 more source