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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.
Pseudogenes limit the identification of novel common transcripts generated by their parent genes
Preprint: Genetic analyses are often complicated by genomic sequences with high sequence similarity. Here, the authors examined the role of pseudogenes on transcriptomic analyses using GB1 and GBAP1 as examples.
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ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2
Published: The authors present ggtranscript, an R package that provides a fast and flexible method to visualize and compare transcripts from long-read sequences. This tool is an extension of ggplot2. View original preprint.
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Genome-wide determinants of mortality and clinical progression in Parkinson’s disease – Summary statistics (Dataset)
Summary statistics from “Genome-wide determinants of mortality and clinical progression in Parkinson’s disease”. medRxiv: https://www.medrxiv.org/content/10.1101/2022.07.07.22277297v1
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Code for making forest plots for top GWAS loci
This repository contains the script used to create forest plots for top loci [part of code for the PD progression survival GWAS to mortality, Hoehn and Yahr stage 3 or greater (H&Y3+), and dementia].
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In Silico analysis links the NSL complex to Parkinson’s disease and the mitochondria – protein-protein interaction data to functional enrichment analysis
This bioinformatics approach has been taken to investigate the interactome of the NSL complex, to unpick its relevance to Parkinson’s disease progression. The mitochondrial interactome of the NSL complex has been built, mining 3 separate repositories: PINOT, HIPPIE, and MIST, for curated, literature-derived protein-protein interaction (PPI) data.
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Serum neurofilament light as a biomarker for prognosis in patients with newly diagnosed Parkinson’s disease
Published: Disease progression in PD patients is variable, but blood biomarkers may be useful. The authors evaluated serum neurofilament light (NfL) as a potential prognostic biomarker for PD. They found that serum NfL provided an objective measure of neurodegeneration in PD patients. View original preprint.
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A step forward for LRRK2 inhibitors in Parkinson’s disease
Review: A discussion on learnings from phase 1 clinical trial for kinase inhibitors targeting LRRK2 that can provide the foundations for moving towards testing the efficacy of LRRK2 kinase inhibition in Parkinson’s disease.
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katiekellyucl/W-PPI-NA-NSL-complex: v1.0.0. W-PPI-NA/NSL_complex
Software for in Silico analysis linking the NSL complex to Parkinson’s disease and the mitochondria (protein-protein interaction data to functional enrichment analysis).
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The Emerging Role of LRRK2 in Tauopathies
Review: Authors review the emerging evidence and discuss the potential impact of LRRK2 dysfunction on tau aggregation, lysosomal function, and endocytosis and exocytosis.
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Glucosylceramidase Beta (GBA) Genotyping
This protocol has been adapted from the PRoBaND Clinical Consortium (incorporating methods described by Neuman et al., 2009 and Stone et al., 2000) and has been used for all publications for PRoBaND / Tracking Parkinson’s describing clinical data and outcomes with respect to GBA status.
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PARK15/FBXO7 is dispensable for PINK1/Parkin-dependent mitophagy in iNeuron and HeLa cell systems
Preprint: Previous studies have proposed a role for FBXO7 in promoting Parkin-dependent mitophagy. Here, the authors argue against a general role for FBXO7 in Parkin-dependent mitophagy and point to the need for additional studies to define how FBXO7 mutations promote parkinsonian-pyramidal syndrome.
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Sample Collection and Measurement of Serum Neurofilament Light (NfL)
This protocol details the steps for the preparation of serum from human blood samples and the measurement of NfL concentration using the NF-Light Advantage kit on the HD-X Analyzer (Quanterix, Billerica, MA).
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SNP Genotyping and ApoE Genotyping
This protocol details the steps for DNA extraction from a human blood sample, quality control, and SNP and APOE genotyping. The protocol has been adapted from the PRoBaND SNP Genotyping and ApoE Genotyping Protocol
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