Results 11 to 20 of about 18,064 (218)

The SPID-GBA study [PDF]

Neurology Genetics, 2020
To provide a variant-specific estimate of incidence, penetrance, sex distribution, and association with dementia of the 4 most common Parkinson disease (PD)-associated GBA variants, we analyzed a large cohort of 4,923 Italian unrelated patients with primary degenerative parkinsonism (including 3,832 PD) enrolled in a single tertiary care center and 7 ...
Letizia Straniero, Rosanna Asselta, Salvatore Bonvegna, Valeria Rimoldi, Giada Melistaccio, Giulia Soldà, Massimo Aureli, Matteo Della Porta, Ugo Lucca, Alessio Di Fonzo, Anna Zecchinelli, Gianni Pezzoli, Roberto Cilia, Stefano Duga   +13 more
openaire   +2 more sources

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

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

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

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

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

Association of GBA genotype with motor and cognitive decline in Chinese Parkinson’s disease patients

Frontiers in Aging Neuroscience, 2023
ObjectiveVariants in the glucocerebrosidase (GBA) gene are the most common and significant risk factor for Parkinson’s disease (PD). However, the impact of GBA variants on PD disease progression in the Chinese population remains unclear. This study aimed
Jingru Ren, Gaiyan Zhou, Yajie Wang, Ronggui Zhang, Zhiying Guo, Hao Zhou, Huifen Zheng, Yu Sun, Changyan Ma, Ming Lu, Weiguo Liu   +10 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

Unraveling neurotransmitter changes in de novo GBA-related and idiopathic Parkinson's disease

Neurobiology of Disease, 2023
Background: Presently, neurotransmitter deficits in GBA-related Parkinson's disease (GBA-PD) and relationships with cognitive impairment are poorly understood.
Jingru Ren, Lei Yan, Hao Zhou, Chenxi Pan, Chen Xue, Jun Wu, Weiguo Liu   +6 more
doaj   +1 more source

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