Results 11 to 20 of about 17,871 (218)

Indonesian EFL teachers

Journal on English as a Foreign Language, 2023
Many studies indicated a genre-based approach (GBA) as an effective method in English foreign language (EFL) teaching and GBA is also integrated into the English teaching curriculum.
Nurfadilah Nadjib, Anita Triastuti
doaj   +1 more source

Cognition as a mediator for gait and balance impairments in GBA-related Parkinson’s disease

npj Parkinson's Disease, 2022
The extent to which the heterogeneity of gait and balance problems in PD may be explained by genetic variation is unknown. Variants in the glucocerebrosidase (GBA) gene are the strongest known genetic risk factor for PD and are associated with greater ...
Rosie Morris, Douglas N. Martini, Katrina Ramsey, Valerie E. Kelly, Katrijn Smulders, Amie Hiller, Kathryn A. Chung, Shu-Ching Hu, Cyrus P. Zabetian, Kathleen L. Poston, Ignacio F. Mata, Karen L. Edwards, Jodi Lapidus, Brenna Cholerton, Thomas J. Montine, Joseph F. Quinn, Fay Horak   +16 more
doaj   +1 more source

Fibroblasts from idiopathic Parkinson’s disease exhibit deficiency of lysosomal glucocerebrosidase activity associated with reduced levels of the trafficking receptor LIMP2

Molecular Brain, 2021
Lysosomal dysfunction is a central pathway associated with Parkinson’s disease (PD) pathogenesis. Haploinsufficiency of the lysosomal hydrolase GBA (encoding glucocerebrosidase (GCase)) is one of the largest genetic risk factors for developing PD ...
Ria Thomas, Elizabeth B. Moloney, Zachary K. Macbain, Penelope J. Hallett, Ole Isacson   +4 more
doaj   +1 more source

Viable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein. [PDF]

PLoS Genetics, 2015
Homozygous mutations in the glucocerebrosidase (GBA) gene result in Gaucher disease (GD), the most common lysosomal storage disease. Recent genetic studies have revealed that GBA mutations confer a strong risk for sporadic Parkinson's disease (PD).
Norihito Uemura, Masato Koike, Satoshi Ansai, Masato Kinoshita, Tomoko Ishikawa-Fujiwara, Hideaki Matsui, Kiyoshi Naruse, Naoaki Sakamoto, Yasuo Uchiyama, Takeshi Todo, Shunichi Takeda, Hodaka Yamakado, Ryosuke Takahashi   +12 more
doaj   +1 more source

Reduced expression of neurogenesis genes as biomarkers of Parkinson's disease associated with mutations in the GBA gene: validation of the data analysis of transcriptome study

Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, 2022
The objective of the study was to validate our previous results obtained during the transcriptome analysis of the primary culture of peripheral blood macrophages in patients with Parkinson's disease associated with mutations in the GBA gene (GBA-PD) in ...
A. I. Bezrukova, K. S. Basharova, I. V. Miliukhina, A. A. Timofeeva, K. A. Senkevich, S. N. Pchelina, T. S. Usenko   +6 more
doaj   +1 more source

Subthalamic Peak Beta Ratio Is Asymmetric in Glucocerebrosidase Mutation Carriers With Parkinson's Disease: A Pilot Study

Frontiers in Neurology, 2021
Introduction: Up to 27% of individuals undergoing subthalamic nucleus deep brain stimulation (STN-DBS) have a genetic form of Parkinson's disease (PD).
Fabian J. David, Miranda J. Munoz, Jay L. Shils, Michael W. Pauciulo, Philip T. Hale, William C. Nichols, Mitra Afshari, Sepehr Sani, Leo Verhagen Metman, Daniel M. Corcos, Gian D. Pal, Gian D. Pal   +11 more
doaj   +1 more source

Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease

Molecular Neurodegeneration, 2022
Background Genetic mutations in beta-glucocerebrosidase (GBA) represent the major genetic risk factor for Parkinson’s disease (PD). GBA participates in both the endo-lysosomal pathway and the immune response, two important mechanisms involved in the ...
Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine, Katia de Paiva Lopes, Jack Humphrey, Amanda Allan, Madison Parks, Brooklyn Henderson, Kelly Astudillo, Charalambos Argyrou, Maojuan Zhuang, Tamjeed Sikder, J. Oriol Narcis, Shilpa Dilip Kumar, William Janssen, Allison Sowa, Giacomo P. Comi, Alessio Di Fonzo, John F. Crary, Steven J. Frucht, Towfique Raj   +21 more
doaj   +1 more source

A NOVEL SYNTHETIC AND RECOMBINANT GLUCOCEREBROSIDASE FOR GAUCHER DISEASE: IN SILICO MOLECULAR EVOLUTION AND GENE THERAPY APPROACHES TO ENHANCE ENZYME ACTIVITY

Hematology, Transfusion and Cell Therapy, 2023
Background: Gaucher disease (GD) is a rare lysosomal storage disease caused by pathogenic variants in the glucocerebrosidase gene (GBA1) resulting in a markedly decreased activity of the lysosomal enzyme b-glucocerebrosidase (GCase).
LLS Figueiredo, LEB Souza, MD Orellana, DT Covas, F Lichtenstein, V Siciliano, KJ Abraham, R Weiss, SL Gerson, AM Fontes   +9 more
doaj   +1 more source

Nrf2/NOX2 Pathway Dysregulation and Oxidative Stress Biomarkers in Gaucher Disease-Associated Parkinsonism: Insights Into a Potential Therapeutic Target. [PDF]

J Cell Mol Med
ABSTRACT Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder, yet its underlying genetic and molecular mechanisms remain incompletely understood. Variants in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase, are not only responsible for Gaucher disease (GD) but also represent a significant genetic risk factor ...
Ardizzone A, Lanza M, Capra AP, Casili G, Bulzomì M, Luca F, Paterniti I, Campolo M, Esposito E.   +8 more
europepmc   +2 more sources

α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism

Molecular Neurodegeneration, 2018
Background Mutations in glucocerebrosidase (GBA) cause Gaucher disease (GD) and increase the risk of developing Parkinson’s disease (PD) and Dementia with Lewy Bodies (DLB).
Seung Pil Yun, Donghoon Kim, Sangjune Kim, SangMin Kim, Senthilkumar S. Karuppagounder, Seung-Hwan Kwon, Saebom Lee, Tae-In Kam, Suhyun Lee, Sangwoo Ham, Jae Hong Park, Valina L. Dawson, Ted M. Dawson, Yunjong Lee, Han Seok Ko   +14 more
doaj   +1 more source