Results 21 to 30 of about 11,713 (255)

Putaminal Recombinant Glucocerebrosidase Delivery with Magnetic Resonance–Guided Focused Ultrasound in Parkinson's Disease: A Phase I Study

Movement Disorders, 2022
GBA1 mutation is the most common genetic risk factor for Parkinson's disease (PD). Replacement of the lysosomal enzyme glucocerebrosidase (GCase) slows neurodegeneration in PD models and may be a promising disease‐modifying therapy in patients with PD ...
Y. Meng, Christopher B. Pople, Yuexi Huang, R. Jones, J. Ottoy, Maged Goubran, Lais M Oliveira, B. Davidson, L. Lawrence, A. Lau, A. Bethune, P. Maralani, A. Abrahão, C. Hamani, K. Hynynen, Suneil K. Kalia, N. Lipsman, L. Kalia   +17 more
semanticscholar   +1 more source

Diagnosis and management of hematological manifestations of gaucher disease: Insights from Saudi Arabia

Journal of Applied Hematology, 2021
Gaucher disease (GD) is a lysosomal storage disorder that occurs due to an inherited inborn error of metabolism. GD manifested due to the deficient activity of the glucocerebrosidase enzyme that results in the accumulation of the harmful ...
Tarek Owaidah, Fahad Alabbas, Iman Alhazmi, Hussain Al Saeed, Saud Balelah, Ghaleb ElYamany, Ohoud Kashari, Mohamad Qari, Mahasen Saleh, Sherif Roushdy, Marwan ElBagoury   +10 more
doaj   +1 more source

Glucocerebrosidase Mutations in Parkinson Disease

Journal of Parkinson's Disease, 2017
Following the discovery of a higher than expected incidence of Parkinson Disease (PD) in Gaucher disease, a lysosomal storage disorder, mutations in the glucocerebrocidase (GBA) gene, which encodes a lysosomal enzyme involved in sphingolipid degradation were explored in the context of idiopathic PD.
Grace C. O’Regan, Ruth‐Mary deSouza, Roberta Balestrino, Anthony H.V. Schapira   +3 more
openalex   +5 more sources

Photoswitchable inhibitors of human β-glucocerebrosidase [PDF]

Organic & Biomolecular Chemistry, 2022
Towards human GCase activity enhancement by means of light responsive inhibitors.
Maria Giulia Davighi, Francesca Clemente, Camilla Matassini, Francesca Cardona, Mogens Brøndsted Nielsen, Andrea Goti, Amelia Morrone, Paolo Paoli, Martina Cacciarini   +8 more
openaire   +3 more sources

Gaucher Disease Type 1, A Rare Disease: A Single Center-Experience

Journal of Contemporary Medicine, 2021
Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to be very effective in reversing the risk of hepato-splenomegaly, cytopenia, osteopenia and reducing the risk of avasculer osteo necrosis, especially in ...
Ayşe Selimoğlu, Bengü Macit, Fatma İlknur Varol, Şükrü Güngör   +3 more
doaj   +1 more source

Lewy Body–like Inclusions in Human Midbrain Organoids Carrying Glucocerebrosidase and α‐Synuclein Mutations

Annals of Neurology, 2021
We utilized human midbrain‐like organoids (hMLOs) generated from human pluripotent stem cells carrying glucocerebrosidase gene (GBA1) and α‐synuclein (α‐syn; SNCA) perturbations to investigate genotype‐to‐phenotype relationships in Parkinson disease ...
J. Jo, Lin Yang, Hoang-Dai Tran, Weonjin Yu, A. Sun, Ya Yin Chang, Byung Chul Jung, Seung-Jae Lee, T. Y. Saw, B. Xiao, A. T. Khoo, L. Yaw, J. Xie, Hidayat Lokman, W. Ong, Grace Gui-Yin Lim, K. Lim, E. Tan, H. Ng, H. S. Je   +19 more
semanticscholar   +1 more source

Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease

Frontiers in Cell and Developmental Biology, 2020
Parkinson disease, the second most common movement disorder, is a complex neurodegenerative disorder hallmarked by the accumulation of alpha-synuclein, a neural-specific small protein associated with neuronal synapses. Mutations in the glucocerebrosidase
Tae-Un Han, Richard Sam, Ellen Sidransky
doaj   +1 more source

Gaucher disease type 2 (case report)

Русский журнал детской неврологии, 2020
The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the ...
D. R. Shagieva, R. V. Magzhanov, A. R. Rakhmatullin, E. V. Sayfullina, R. G. Musin   +4 more
doaj   +1 more source

Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease

Frontiers in Neurology, 2022
Variants in the GBA1 and LRRK2 genes are the most common genetic risk factors associated with Parkinson disease (PD). Both genes are associated with lysosomal and autophagic pathways, with the GBA1 gene encoding for the lysosomal enzyme ...
Laura J. Smith, Laura J. Smith, Chiao-Yin Lee, Chiao-Yin Lee, Elisa Menozzi, Elisa Menozzi, Anthony H. V. Schapira, Anthony H. V. Schapira   +7 more
doaj   +1 more source

Cross-talks among GBA mutations, glucocerebrosidase, and α-synuclein in GBA-associated Parkinson’s disease and their targeted therapeutic approaches: a comprehensive review

Translational Neurodegeneration, 2021
Current therapies for Parkinson’s disease (PD) are palliative, of which the levodopa/carbidopa therapy remains the primary choice but is unable to modulate the progression of neurodegeneration.
T. Behl, G. Kaur, O. Frățilă, C. Buhas, C. Judea-Pusta, N. Negrut, C. Bustea, S. Bungău   +7 more
semanticscholar   +1 more source