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Catalog
ASAP is committed to accelerating the pace of discovery and informing a path to a cure for Parkinson’s disease through collaboration, research-enabling resources, and data sharing. We’ve created this catalog to showcase the research outputs and tools developed by ASAP-funded programs.
Protocol
Collection of protocols for paper: “Glucocerebrosidase, a Parkinson´s disease-associated protein, is imported into mitochondria and regulates complex I assembly and function”
This is a collection of protocols used in a recent pre-print by the Deleidi Lab, Team Schapira. You can access pre-print at https://doi.org/10.21203/rs.3.rs-1521848/v1
Teams
Protocol
Collection of protocols of Team Deleidi used in the publication: “LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson’s disease”
Collection of protocols of Team Deleidi used in the publication: “LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson’s disease.”
Teams
Article
Response to: “Is Gauchian genotyping of GBA1 variants reliable?”
Preprint: To understand the cause of these discrepancies, the team reviewed their data, and concluded that they are misinterpreting Gauchian results in 8 of the 11 discrepant samples, and incorrectly using Gauchian to analyze low-coverage 1kGP samples.
Lab Resource
x4 GBA plasmids
The below plasmids are deposited and available via Addgene: https://www.addgene.org/Anthony_Schapira/. These have been used in publication: 10.1093/hmg/ddac233
188580 WT GBA pcDNA3.1 GBA (Homo sapiens)
188581 E326K GBA pcDNA3.1 GBA (Homo sapiens)
188582 L444P GBA pcDNA3.1 GBA (Homo sapiens)
188583 N370S GBA pcDNA3.1 GBA (Homo sapiens)
Teams
Article
Sex distribution of GBA1 variant carriers with dementia with Lewy Bodies and Parkinson’s disease
Sex distribution of GBA1 variant carriers with dementia with Lewy Bodies and Parkinson’s disease.
Article
Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregation
Publication: In this study, the lipid membrane composition of fibroblasts isolated from control subjects, patients with idiopathic Parkinson’s disease and Parkinson’s disease patients carrying the L444P GBA mutation (PD-GBA) was assayed using shotgun lipidomics. Findings suggest that L44P GBA mutations have a distinctly altered membrane lipid profile. View original preprint.
Teams
Article
Neuronal hyperactivity–induced oxidant stress promotes in vivo α-synuclein brain spreading
Published: This study investigated the relationship between neuronal activity and interneuronal transfer of α-synuclein, a Parkinson-associated protein, and elucidated mechanisms underlying this relationship.
Teams
Article
Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease
Review: This review compares GBA1 and LRRK2-associated PD, and highlights possible genotype-phenotype associations for GBA1 and LRRK2 separately, based on biochemical consequences of single variants.
Teams
Dataset
The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines
The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines. Associated with publication 10.1101/2022.06.01.494130.
Teams
Protocol
Validation of genotyping method for L444P mice ear-clips
The genotyping is used to identify if mice are heterozygote (hetero) or Wild-Type (WT). The aim of the work is to validate the digestion method, and PCR program, the PCR primers, and the interpretation of the results. Associated with publication: doi: 10.1093/brain/awx221.
Teams
Protocol
Midbrain-like Organoids generation from hiPSCs
Protocol for generating midbrain organoids from human iPSCs. In this protocol we describe the differentiation of human induced pluripotent stem cells (hiPSCs) into human midbrain-like organoids (hMLOs). This protocol has been developed based from several published protocols.
Teams
Teams
Article
GBA Variants and Parkinson Disease: Mechanisms and Treatments
Review: The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase). Around 5–15% of PD patients have mutations in the GBA gene. This review discusses the pathways associated with GBA-PD and highlights potential treatments which may act to target GCase and prevent neurodegeneration.
Teams
Protocol
Soluble and insoluble A-SYN fractionation
Soluble/insoluble alpha-synuclein fractionation is a technique used to separate different forms of the alpha-synuclein protein based on their solubility properties.
Teams