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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Output Type
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Program
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CRN Team Name
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Theme
Evaluation Of The Rims2 Locus As A Risk Locus For Parkinson’s Disease Dementia
Liu et al. found RIMS2 locus linked to dementia in Parkinson's disease. Our study with 2536 individuals found no association with RIMS2 or other loci. More research is needed to uncover biological factors influencing Parkinson's dementia.
Vesicular dysfunction and pathways to neurodegeneration
In this review, the pathways that have emerged as critical for neuronal survival in the human brain are discussed, illustrating the diversity of proteins and cellular events with three molecular case studies from different neurological diseases.
PINK1: From Parkinson’s disease to mitophagy and back again
This perspective discusses the implications of a 2010 PLOS Biology paper (https://doi.org/10.1371/journal.pbio.1000298) that shed light on the functional importance of PINK1 in the mitophagy cascade.
Leucine-rich repeat kinase 2 at a glance
An overview of current knowledge about LRRK2 function, dysfunction, and links to disease.
Combining biomarkers for prognostic modelling of Parkinson’s disease
Parkinson's disease progression varies among patients. Predicting progression accurately is crucial for clinical trial selection. Blood biomarkers like serum NfL, along with genetic factors (GBA, APOE) can enhance prediction beyond age and phenotype.
The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson’s disease
Here, the authors sought to identify whether the non-specific lethal complex has potential regulatory relationships with other genes associated with Parkinson's disease in human brain.
Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias
The authors used validated human data to create a protein-protein interaction map using causative genes to identify core proteins and processes.
The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1
The authors identify novel transcripts from both GBA1 and GBAP1, including protein-coding transcripts that are translated in vitro and detected in proteomic data, but that lack GCase activity.
KAT8 compound inhibition inhibits the initial steps of PINK1-dependant mitophagy
The authors provide additional support for KAT8 inhibition as a regulator of mitophagy and autophagy processes.
ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2
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.
Association between the LRP1B and APOE loci and the development of Parkinson’s disease dementia
Genetic analysis of 3,964 PD cases revealed APOE-ϵ4 allele and new loci as risk factors for PD dementia progression, implicating amyloid pathway in PDD development and potential for amyloid-targeting therapy.
Splicing accuracy varies across human introns, tissues and age
This in-depth characterization of mis-splicing can have important implications for our understanding of the role of splicing inaccuracies in human disease and the interpretation of long-read RNA-sequencing data.
Protein network analysis links the NSL complex to Parkinson’s disease via mitochondrial and nuclear biology
A bioinformatics approach was taken to investigate the proteome of the NSL complex, to unpick its relevance to PD progression. The authors’ data points to NSL complex members OGT and WDR5 as key drivers of this increased PD association.
A step forward for LRRK2 inhibitors in Parkinson’s disease
In common with the majority of neurodegenerative diseases, there is an urgent and pressing need for novel disease modifying therapies for Parkinson’s disease (PD). Reporting the results of the first human trial for kinase inhibitors of Leucine…
Genome-wide Analysis of Motor Progression in Parkinson Disease
The genetic basis of Parkinson disease (PD) motor progression is largely unknown. Previous studies of the genetics of PD progression have included small cohorts and shown a limited overlap with genetic PD risk factors from case-control studies.…
