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Output 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.
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Reply to: Is Gauchian genotyping of GBA1 variants reliable?
Summarizing a study by N. Tayebi et al. in Communications Biology, published in 2025.
Severe GBA1 variants drive the GBA-PD clinical phenotype: implications for counselling and clinical trials
Variants in the GBA1 gene are common genetic risk factors for Parkinson's disease. A study compared clinical phenotypes in GBA-PD and idiopathic PD patients, finding that only severe GBA-PD cases show a more severe clinical profile.
Exploring the relationship between GBA1 host genotype and gut microbiome in the GBA1L444P/WT mouse model: Implications for Parkinson disease pathogenesis
Heterozygous *GBA1* variants are common in Parkinson's disease. This study found no significant impact of the *GBA1* L444P variant on gut microbiome composition in mice, suggesting other factors may contribute to disease penetrance.
(x6) GBA heterozygous and homozygous mutant fibroblast lines available to share
Cell lines deposited at ATCC used in a publication (10.1093/hmg/ddac233) include UCL-CTRL001, UCL-CTRL002, UCL-CTRL003, UCL-YCTRL001, UCL-E001K, UCL-N001S, and UCL-N002S, each with specific RRIDs.
R Code used in “Sex-Specific Microglial Responses to Glucocerebrosidase Inhibition: Relevance to GBA1-Linked Parkinson’s Disease”
R Code used in "sex-specific microglial responses to glucocerebrosidase inhibition: Relevance to GBA1-linked Parkinson’s disease."
Post-fibrillization nitration of alpha-synuclein abolishes its seeding activity and pathology formation in primary neurons and in vivo
Increasing evidence points to post-translational modifications (PTMs) as key regulators of alpha-synuclein (α-Syn) function in health and disease. However, whether these PTMs occur before or after α-Syn pathology formation and their role in…
Indirect Proximity Ligation Assay (PLA) – Brightfield
The authors describe the PLA protocol that is routinely used in the laboratory to detect nitrated alpha-synuclein and nitration of mitochondrial enzymes such as SOD2 and the mitochondrial complex 1 subunit NDUFB8.
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 fibroblasts.
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. This is part of a…
STC-1 cell culture
Cell culture of STC-1 mouse enteroendocrine cells.
Immunohistochemistry using paraffin embedded tissue
Immunohistochemistry using paraffin embedded tissue
qPCR of α-synuclein, TNF and NF-κβ
A procedure for quantitative real time reverse transcription PCR of α-synuclein, TNF, and NF-κβ.
Generation of induced pluripotent stem cells and gene correction
iPSC generation and gene correction (CRISPR-CAS9) 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 preprint by the Deleidi Lab, Team Schapira. You can access pre-print at https://doi.org/10.21203/rs.3.rs-1521848/v1
R code for paper Phenotype of GBA1 variants in individuals with and without Parkinson disease: the RAPSODI study
This is the R code used to produce the results described in the paper "Phenotype of GBA1 variants in individuals with and without Parkinson’s disease: The RAPSODI study"