Results 151 to 160 of about 3,074 (177)

ZEBRAFISH AS A MODEL OF GLUCOCEREBROSIDASE 1 (GBA1) DEFICIENCY

Journal of Neurology, Neurosurgery & Psychiatry, 2015
ObjectivesTo establish and characterise glucocerebrosidase 1 (GBA1) mutant zebrafish line.BackgroundHomozygous GBA1 mutations (GBA1−/−) cause Gaucher disease (GD), heterozygote GBA1 mutations (GBA+/−) are the most common risk factor for Parkinson's disease (PD).
Marcus Keatinge, Marc DaCosta, Aswin Menke, Yu-Chia Chen, Hai Hoang Bui, Mike O'Neill, Oliver Bandmann   +6 more
openaire   +1 more source

Clinical Studies of GBA1 -associated Parkinsonism: Progress and Challenges

Neurodegenerative Disease Management, 2016
Section of Molecular Neurogenetics, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA *Author for correspondence: Tel.: +1 301 451 0901 or 301 496 0373; Fax: +1 301 402 6438; sidranse@mail.nih.gov Mutations in glucocerebrosidase (GBA1), the gene mutated in the lysosomal storage disorder Gaucher disease ...
Grisel, Lopez, Gianina, Monestime, Ellen, Sidransky   +2 more
openaire   +2 more sources

Lessons and future directions for GBA1-targeting therapies

The Lancet Neurology, 2023
openaire   +2 more sources

Venglustat in GBA1-related Parkinson's disease

The Lancet Neurology
Ari, Zimran, Shoshana, Revel-Vilk, Michal, Becker-Cohen, Majdolen, Istaiti, Arndt, Rolfs   +4 more
openaire   +2 more sources

Mechanisms of GBA1 related PD in hiPSC derived neurons

2018
Parkinson's Disease (PD) is the second most common neurodegenerative disorder after Alzheimers Disease affecting approximately 5% of the population over 80 years of age. The exact mechanisms underlying the disease are not known but environmental as well as genetic factors have been described to contribute to the disease progression.
openaire   +1 more source

Who is at Risk of Parkinson Disease? Refining the Preclinical Phase of GBA1 and LRRK2 Variant Carriers: a Clinical, Biochemical, and Imaging Approach

Current Neurology and Neuroscience Reports, 2023
, Micol Avenali, Elisa Menozzi
exaly  

The biochemical basis of interactions between Glucocerebrosidase and alpha‐synuclein in GBA1 mutation carriers

Journal of Neurochemistry, 2020
, Marco Toffoli
exaly  

Lysosome and Inflammatory Defects in GBA1‐Mutant Astrocytes Are Normalized by LRRK2 Inhibition

Movement Disorders, 2020
Malu Tansey, Nathalie Lengacher, Matthew Lavoie   +2 more
exaly  

Classification of GBA1 Variants in Parkinson's Disease: The GBA1 ‐PD Browser

Movement Disorders, 2023
Cornelis Blauwendraat, Ziv Gan-Or
exaly  

GBA1 deficiency negatively affects physiological α-synuclein tetramers and related multimers

Proceedings of the National Academy of Sciences of the United States of America, 2018
Xiaobo Mao, Seung-Hwan Kwon, Akhilesh Pandey   +2 more
exaly