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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.
Article
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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Evaluation Of The Rims2 Locus As A Risk Locus For Parkinson’s Disease Dementia
Preprint: Genome-wide association studies have identified several risk loci for PD, providing insights into the mechanisms of disease initiation. Previously, the RIMS2 locus was identified as a determinant of dementia in PD. The authors evaluated 2536 individuals evaluated it, but found no association between RIMS2 and development of PD-related dementia.
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Combining biomarkers for prognostic modeling of 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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Diabetes and neuroaxonal damage in Parkinson’s disease
Published: Those living with both PD and type 2 diabetes can present with more severe motor and cognitive symptoms. The authors investigated whether more severe neuroaxonal injury in PD patients was the cause. They confirmed these findings and found these patients had higher serum neurofilament light levels. View original preprint.
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Association between the LRP1B and APOE loci and the development of Parkinson’s disease dementia
Published: Dementia is an important feature of late-stage PD. The authors used an unbiased, genome-wide approach to identify genetic polymorphisms that associate with faster development of dementia in PD patients. They identified four genetic regions that are associated with progression to dementia in PD, including APOE and three previously unknown regions. View original preprint (https://www.medrxiv.org/content/10.1101/2022.05.23.22275465v1).
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Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at Chr16q11.2 and on the MAPT H1 allele
Published: Genome-wide association studies have increased our understanding of PD by identifying genetic variants. The authors used a mitophagy screening assay to evaluate the functional significance of these variants and found two new regulators of PINK-dependent mitophagy, KAT8, and KANSL1. View original preprint.
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ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2
Published: Parkinson’s disease likely reflects a complex interaction among genetic and environmental factors. Here, the role of nicotine, SV2 and the alpha-synuclein were examined. The study suggests that SV2 may be needed for the protection nicotine provides from Parkinson’s-related neurotoxicity. View original preprint.
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From structure to ætiology: a new window on the biology of leucine-rich repeat kinase 2 and Parkinson’s disease
Review: This review summarizes LRRK2 structure both in a historical and current context, highlighting new insights into the structure of LRRK2 and complexes it forms.
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Article
Vesicular dysfunction and pathways to neurodegeneration
In this review, the pathways that have emerged as being critical for neuronal survival in the human brain is be discussed – illustrating the diversity of proteins and cellular events with three molecular case studies drawn from different neurological diseases.
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Article
Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases
Preprint: Analysis of local genetic correlations can identify genomic regions that associate with more than one trait which can provide a better mechanistic understanding of disease. The authors identified several local genetic correlations between common neurodegenerative and neuropsychiatric diseases.
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Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias
Published: Hereditary Spastic Paraplegias are a group of neurodegenerative disorders with diverse clinical presentation and genetic variability. The authors used validated human data to create a protein-protein interaction map using causative genes to identify core proteins and processes. 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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Article
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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Article
Genome-wide Analysis of Motor Progression in Parkinson Disease
Published: In this article, the authors explored whether there are genetic variants that explain variability in the motor progression found in Parkinson’s in clinical cohorts. They performed a large study genome scan looking at the influence of genetic variation on motor progression and the worsening of motor capabilities among thousands of Parkinson’s patients. View original preprint.
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