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

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.

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)

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.

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).

Dataset

Data set of the manuscript “Neuronal hyperactivity-induced oxidant stress promotes in vivo a-synuclein brain spreading”

Data set of the manuscript “Neuronal hyperactivity-induced oxidant stress promotes in vivo a-synuclein brain spreading”.

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.

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.

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.