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

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.

Protocol

Complex I activity assay

This protocol is part of a Collection of protocols (dx.doi.org/10.17504/protocols.io.8epv593dng1b/v1) for the paper “Glucocerebrosidase, a Parkinson´s disease-associated protein, is imported into mitochondria and regulates complex I assembly and function” (https://doi.org/10.21203/rs.3.rs-1521848/v1).

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.

Protocol

Plasmid-reprogramming of human fibroblasts

This protocol details about plasmid-reprogramming of human fibroblasts.

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

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

Preprint: Although the E326K variant is one of the most common GBA variants associated with PD, there is limited understanding of its biochemical effects. Here, the authors characterize homozygous and heterozygous E326K variants in human fibroblasts.

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

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.

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.

Bioinformatics

Single cell analysis of iPSC-derived midbrain organoids

The following script was used for analysis of gene corrected (GC) versus GBA1 mutant (MUT) midbrain organoids. The purpose was to combine, filter, integrate, and identify clusters and differentially expressed genes sets.

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.

Article

Glucocerebrosidase 1 and leucine-rich repeat kinase 2 in Parkinson disease and interplay between the two genes

Review: This review focuses on the endolysosomal pathway roles of GBA and LRRK2, highlighting the role and activity of Rab GTPases as LRRK2 substrates.