Author
Mark Cookson
National Institutes of HealthORCID 0000-0002-1058-3831Unclaimed ORCID profile · follow to get notified of new preprints
Additional preprints under this name without ORCID
Biology Disciplines
Click to filter author papersSignature Assays, Organisms & Methods
Click to filter · or open tagActivity by Year
2019-2026 · peak 18/yrCo-Author Collaboration Network
10 top collaborators · 43 mutual co-author links69 papers
Recent·Most cited
- Molecular BiologyNeurobiology of DiseasePeer-reviewed
Sequential screening nominates the Parkinson's disease associated kinase LRRK2 as a regulator of Clathrin-mediated endocytosis
George R. Heaton, Natalie Landeck, Adamantios Mamais…·Mark Cookson
The paper identifies LRRK2 as a regulator of clathrin-mediated endocytosis and links clathrin-trafficking pathways to Parkinson's disease risk.
45 citations - NeuroscienceScientific ReportsPeer-reviewed
APOE4 is Associated with Differential Regional Vulnerability to Bioenergetic Deficits in Aged APOE Mice
Estela Área-Gómez, Delfina Larrea, Marta Pera…·Tal Nuriel
The paper investigates how APOE4 affects bioenergetic pathways in specific brain regions of aged mice, finding region-specific differences that may contribute to Alzheimer's disease risk.
55 citationstop 4% - BioinformaticsNature CommunicationsPeer-reviewed
Regulatory sites for known and novel splicing in human basal ganglia are enriched for disease-relevant information
Sebastian Guelfi, Karishma D’Sa, Juan Antonio Botía…·Elisabet Mondragón Rezola
The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.
34 citations - GeneticsbioRxivPreprint
Common variation at the LRRK2 locus is associated with survival in the primary tauopathy progressive supranuclear palsy
Edwin Jabbari, Manuela M. X. Tan, Regina Hertfelder Reynolds…·Huw R. Morris
The paper identifies common LRRK2 locus variation associated with survival in progressive supranuclear palsy, linking it to gene expression regulation and suggesting therapeutic implications for tauopathies.
4 citations - GeneticsThe Lancet NeurologyPeer-reviewed✦ In-depth digest
Expanding Parkinson’s disease genetics: novel risk loci, genomic context, causal insights and heritable risk
Mike A. Nalls, Cornelis Blauwendraat, Costanza Ludovica Vallerga…·Ciara García
Across 37,688 Parkinson's cases, 18,618 proxy-cases and 1.4M controls, 90 risk signals map to 78 loci (37 new); an 1805-variant polygenic score explains 26-36% of heritability.
2,451 citationstop 1% - GeneticsBrainPeer-reviewed
Genetic modifiers of risk and age at onset in GBA associated Parkinson disease and Lewy body dementia
Cornelis Blauwendraat, Xylena Reed, Lynne Krohn…·Andrew Singleton
The paper identifies genetic modifiers of risk and age at onset in GBA-associated Parkinson disease and Lewy body dementia using large case-control datasets and genome-wide association studies.
237 citationstop 1% - BiochemistrybioRxivPreprint
A revised 1.6 Å structure of the GTPase domain of the Parkinson’s disease-associated protein LRRK2 provides insights into mechanisms
Chun-Xiang Wu, Jingling Liao, Yangshin Park…·Quyen Q. Hoang
This paper reports a 1.6 Å crystal structure of the GTPase domain of LRRK2, revealing how PD-associated mutations at Arg-1441 impair nucleotide-dependent conformational dynamics.
DOI 10.1101/676627 - Genomicsnpj Parkinson s DiseasePeer-reviewed
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability
Regina Hertfelder Reynolds, Juan Antonio Botía, Mike A. Nalls…·Oriol Dols‐Icardo
This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.
100 citationstop 1%