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

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)

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.”

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.

Article

Evaluation of an adapted semi-automated DNA extraction for human salivary shotgun metagenomics

Preprint: This study demonstrates that the authors’ semi-automated protocol is suitable for shotgun metagenomic analysis, while allowing for a better sample treatment logistic with reduced technical variability and without compromising the structure of the oral microbiome.

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.

 

Article

The activities of LRRK2 and GCase are positively correlated in clinical biospecimens and experimental models of Parkinson’s disease

Recent work suggests that LRRK2 kinase activity can modulate glucocerebrosidase (GCase) function. The authors investigated the relationship between LRRK2 and GBA1 by assessing GCase activity and found a positive correlation between the activities of LRRK2 and GCase in different cellular and ex vivo models. This is a preprint.

Article

LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson’s disease

Published: Recent work suggests that LRRK2 kinase activity can modulate glucocerebrosidase (GCase) function. The authors investigated the relationship between LRRK2 and GBA1 by assessing GCase activity and found a positive correlation between the activities of LRRK2 and GCase in different cellular and ex vivo models. View original preprint.

Article

The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines

Published: The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines, (x6) GBA het and hom mutant fibroblasts. View original preprint.

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.

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.