GBA1-and LRRK2-directed Treatments: The Way Forward
Parkinsonism & Related DisordersThere is an urgent need to identify drug targets for disease modification in Parkinson's Disease (PD). In this mini-review we highlight the reasons genetically-defined drug targets show great promise. Specifically, clinical trials targeting the glucocerebrosidase-1 (GBA1) and leucine-rich repeat kinase 2 (LRRK2) genes are underway.
Gadi Maayan Eshed, Roy N. Alcalay
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A Global Perspective of GBA1-Related Parkinson’s Disease: A Narrative Review
GenesParkinson’s disease (PD) is considered to be the second most prominent neurodegenerative disease and has a global prevalence. Glucocerebrosidase (GBA1) gene mutations represent a significant hereditary risk factor for the development of PD and have a profound impact on the motor and cognitive progression of the disease.
Christos Koros +2 more
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ZEBRAFISH AS A MODEL OF GLUCOCEREBROSIDASE 1 (GBA1) DEFICIENCY
Journal of Neurology, Neurosurgery & Psychiatry, 2015ObjectivesTo 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 +6 more
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Clinical Studies of GBA1 -associated Parkinsonism: Progress and Challenges
Neurodegenerative Disease Management, 2016Section 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 +2 more
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Lessons and future directions for GBA1-targeting therapies
The Lancet Neurology, 2023openaire +2 more sources
Mechanisms of GBA1 related PD in hiPSC derived neurons
2018Parkinson'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.
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Venglustat in GBA1-related Parkinson's disease
The Lancet NeurologyAri, Zimran +4 more
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Lysosome and Inflammatory Defects in GBA1‐Mutant Astrocytes Are Normalized by LRRK2 Inhibition
Movement Disorders, 2020Jianjun Chang +2 more
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Classification of GBA1 Variants in Parkinson's Disease: The GBA1 ‐PD Browser
Movement Disorders, 2023Ziv Gan-Or, Cornelis Blauwendraat
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