OPDC Publications
Theme 1: Clinical
Genetic associations between post-traumatic stress disorder and REM-sleep behavior disorder
Journal article
Ghamgosar Shahkhali M. et al, (2026), Npj Parkinson S Disease, 12
α-Synuclein blocks endoplasmic reticulum co-translational protein translocation early in Parkinson’s disease
Journal article
Lam CL. et al, (2026), Nature Communications, 17
GWAS on short tandem repeats identifies genetic mechanisms in Alzheimer’s disease
Journal article
Gmelin D. et al, (2026), Nature Communications, 17
Suppression of pathological oscillations with transcranial focused ultrasound in Parkinson’s disease
Journal article
Eraifej J. et al, (2026), Nature Communications, 17
Data-driven trajectories of atrophy explain clinical heterogeneity across Lewy body diseases
Journal article
Konuri A. et al, (2026), Ebiomedicine, 131
Brain-derived and in vitro-seeded alpha-synuclein fibrils exhibit distinct biophysical profiles
Preprint
Lee SS. et al, (2026)
Defining the underlying pathology of corticobasal syndrome using clinical features and biomarkers.
Journal article
Vaughan DP. et al, (2026), Brain
Patient experiences of tissue donation and digital consent support in primary craniospinal tumour research
Journal article
Mawhinney G. et al, (2026), Supportive Care in Cancer, 34
‘A No-Brainer, but Not a Simple Decision’: A Qualitative Study of Patient Experiences of Tissue Donation for Research in Rare Craniospinal Tumour Pathways
Journal article
Mawhinney G. et al, (2026), Health Expectations, 29
Early assessment, diagnosis and treatment of Parkinsonism and Related Syndromes study (ExPRESS): a protocol for an observational study on incident parkinsonism
Journal article
Fumi RG. et al, (2026), BMJ Open, 16
Theme 2: Cellular
Protocol for efficient purification of endotoxin-free human recombinant tau protein
Journal article
Karabova MK. et al, (2026), STAR Protocols, 7, 104800 - 104800
Varicose projection astrocytes: Conserved reactive cells in brain pathology
Journal article
Ciani C. et al, (2026), Science Advances, 12, 1 - 18
Dissecting genotype-specific effects of disease-associated genetic variants
Journal article
Farrow SL. et al, (2026), Iscience, 29
Reactive astrocytes mediate toxicity in iPSC derived dopaminergic neurons.
Journal article
Ibarra-Aizpurua N. et al, (2026), NPJ Parkinsons Dis
Single-cell and spatial transcriptomic analyses of gene therapy-associated retinal inflammation in non-human primates.
Journal article
Sourd C. et al, (2026), Mol Ther Adv, 34
Phosphorylated ubiquitin is a secondary messenger and an epigenetic mark mediating mitochondria to nucleus signaling.
Preprint
Mercer TJ. et al, (2026)
Tracking tau and cellular responses in human iPSC-microglia: from uptake to seedable secretion, including in extracellular vesicles
Journal article
Karabova MK. et al, (2026), Alzheimer S and Dementia, 22
Dopamine release from Parkinson’s patient-derived neurons is disrupted due to impaired synaptic vesicle loading
Preprint
Cramb KML. et al, (2026)
CHCHD2 links mitochondrial dysfunction and α-synuclein misfolding in Parkinson’s disease
Journal article
Narendra D. and Ryan BJ., (2026), Trends in Neurosciences, 49, 157 - 158
Light-driven repair: Photobiomodulation restores blood–brain barrier function following hypoxic injury
Preprint
Domocos M. et al, (2026)
Theme 3: Models
The superior colliculus gates dopamine responses to conditioned stimuli in visual classical conditioning
Journal article
Zhang YF. et al, (2026), Nature Communications, 17
Dynamins maintain nuclear envelope homeostasis and genome stability
Journal article
Aveleira C. et al, (2026), Nature Communications, 17
Selective GRAB sensors reveal distinct endocannabinoid dynamics in vivo
Preprint
Cai R. et al, (2026)
5-HT4 Receptor Ligand RS67333 Modulates Striatal Acetylcholine and Dopamine Release via the Inhibition of Acetylcholinesterase
Journal article
Qiao Q. et al, (2026), ACS Chemical Neuroscience, 17, 3013 - 3022
Dopamine release from Parkinson’s patient-derived neurons is disrupted due to impaired synaptic vesicle loading
Preprint
Cramb KML. et al, (2026)
Corrigendum to "New insights into axonal regulators of dopamine transmission in health and disease" [Curr Op Neurobiol 94 (2025) 103093
Journal article
Todd KL. et al, (2026), Current Opinion in Neurobiology, 96
An anatomical hotspot for striatal dopamine-acetylcholine interactions during reward and movement.
Journal article
Bouabid S. et al, (2026), bioRxiv
Nucleophagy removes cytotoxic trapped PARP1
Journal article
Hoslett G. et al, (2026), Nature Cell Biology
TAAR1 Regulates Presynaptic Dopamine Function: Evidence From Preclinical Studies and a Phase 1b Trial in Patients With Schizophrenia
Journal article
Howes OD. et al, (2026), Biological Psychiatry
2025
Theme 1: Clinical
Dopamine and the dynamics of subthalamic and leg muscle activities in parkinsonian stepping.
Journal article
Simpson TG. et al, (2025), Brain
Genome-wide association study of REM sleep behavior disorder in Parkinson’s disease
Journal article
Sosero YL. et al, (2025), Npj Parkinson S Disease, 11
Dopamine D2 receptor upregulation in dorsal striatum in the LRRK2-R1441C rat model of early Parkinson’s disease revealed by in vivo PET imaging
Journal article
Delgado-Goñi T. et al, (2025), Scientific Reports, 15
The profile of gastrointestinal dysfunction in prodromal to late-stage Parkinson’s disease
Journal article
Camacho M. et al, (2025), npj Parkinson's Disease, 11
Working memory filtering at encoding and maintenance in healthy ageing, Alzheimer’s and Parkinson’s disease
Journal article
Toniolo S. et al, (2025), Scientific Reports, 15
Smartphone-based prediction of dopaminergic deficit in prodromal and manifest Parkinson’s disease
Journal article
Gunter KM. et al, (2025), Npj Digital Medicine, 8
Actigraphy-based detection of isolated REM sleep behavior disorder: multicenter validation across devices and populations
Journal article
Zhou L. et al, (2025), Npj Digital Medicine, 8
Biomarkers
Journal article
Mak E. et al, (2025), Alzheimer S Dementia the Journal of the Alzheimer S Association, 21
Quantitative measurements of α-synuclein seeds in CSF inform diagnosis of synucleinopathies
Journal article
Abdi IY. et al, (2025), Journal of Parkinson S Disease, 15, 1412 - 1430
Theme 2: Cellular
Protocol for pooled FACS-based CRISPR knockout screening in human iPSC-derived microglia
Journal article
Washer SJ. et al, (2025), STAR Protocols, 6
Aquaporins in GtoPdb v.2025.4
Journal article
Bill RM. et al, (2025), IUPHAR/BPS Guide to Pharmacology CITE, 2025
TransLeish: Identification of membrane transporters essential for survival of intracellular Leishmania parasites in a systematic gene deletion screen
Journal article
Albuquerque-Wendt A. et al, (2025), Nature Communications, 16
Basic Science and Pathogenesis
Journal article
Bertherat F. et al, (2025), Alzheimer S Dementia the Journal of the Alzheimer S Association, 21
The Concise Guide to PHARMACOLOGY 2025/26: Ion channels
Journal article
Alexander SPH. et al, (2025), British Journal of Pharmacology, 182, S152 - S241
Formation of seeding-competent α-synuclein aggregates in parkin-deficient iPSC-derived human neurons
Journal article
Schmidt SI. et al, (2025), Npj Parkinson S Disease, 11
Cerebellar organoids model cell type-specific FOXP2 expression during human cerebellar development
Journal article
Apsley EJ. et al, (2025), Disease Models Mechanisms, 18
Evidence for enhancer activity in intron 1 of TNFRSF1A using CRISPR/Cas9 in human induced pluripotent stem cell-derived macrophages
Journal article
Osgood JA. et al, (2025), Scientific Reports, 15
Aquaporins in GtoPdb v.2025.3
Journal article
Bill RM. et al, (2025), IUPHAR/BPS Guide to Pharmacology CITE, 2025
Galectin-3 induces neurodevelopmental apical-basal polarity and regulates gyrification
Journal article
Soares LC. et al, (2025), Science Advances, 11
Theme 3: Models
Dopamine D2 receptor upregulation in dorsal striatum in the LRRK2-R1441C rat model of early Parkinson’s disease revealed by in vivo PET imaging
Journal article
Delgado-Goñi T. et al, (2025), Scientific Reports, 15
Adenosine in the Brain: Recent Progress on Detection, Function, and Translation
Journal article
Yahiro T. et al, (2025), Journal of Neuroscience the Official Journal of the Society for Neuroscience, 45
TAAR1 Regulates Presynaptic Dopamine Function: Evidence From Preclinical Studies and a Phase 1b Trial in Patients With Schizophrenia.
Journal article
Howes OD. et al, (2025), Biol Psychiatry
New insights into axonal regulators of dopamine transmission in health and disease
Journal article
Todd KL. et al, (2025), Current Opinion in Neurobiology, 94
MiR-186-5p inhibition restores synaptic transmission and neuronal network activity in a model of chronic stress
Journal article
Rodrigues B. et al, (2025), Molecular Psychiatry, 30, 1034 - 1046
Intersectin and endophilin condensates prime synaptic vesicles for release site replenishment
Journal article
Ogunmowo TH. et al, (2025), Nature Neuroscience
Role of lipids in interorganelle communication
Journal article
Domingues N. et al, (2025), Trends in Cell Biology, 35, 46 - 58
Loss of the lysosomal protein CLN3 triggers c-Abl-dependent YAP1 pro-apoptotic signaling
Journal article
Domingues N. et al, (2025), EMBO Reports
2024
Theme 1: Clinical
Comprehensive blood metabolomics profiling of Parkinson’s disease reveals coordinated alterations in xanthine metabolism
Journal article
de Lope EG. et al, (2024), Npj Parkinson S Disease, 10
Predictors of short-term anxiety outcome in subthalamic stimulation for Parkinson’s disease
Journal article
Sauerbier A. et al, (2024), npj Parkinson's Disease, 10
Rapid modulation of striatal cholinergic interneurons and dopamine release by satellite astrocytes
Journal article
Stedehouder J. et al, (2024), Nature Communications, 15
A worldwide study of white matter microstructural alterations in people living with Parkinson’s disease
Journal article
Owens-Walton C. et al, (2024), npj Parkinson's Disease, 10
Evaluation of Cerebrospinal Fluid α-Synuclein Seed Amplification Assay in Progressive Supranuclear Palsy and Corticobasal Syndrome
Journal article
Vaughan DP. et al, (2024), Movement Disorders, 39, 2285 - 2291
Online cognitive monitoring technology for people with Parkinson’s disease and REM sleep behavioural disorder
Journal article
Bălăeţ M. et al, (2024), npj Digital Medicine, 7
Genome-wide determinants of mortality and motor progression in Parkinson’s disease
Journal article
Tan MMX. et al, (2024), npj Parkinson's Disease, 10
Author Correction: Development and validation of an expanded antibody toolset that captures alpha-synuclein pathological diversity in Lewy body diseases (npj Parkinson's Disease, (2023), 9, 1, (161), 10.1038/s41531-023-00604-y)
Journal article
Altay MF. et al, (2024), Npj Parkinson S Disease, 10
A worldwide study of subcortical shape as a marker for clinical staging in Parkinson’s disease
Journal article
Laansma MA. et al, (2024), npj Parkinson's Disease, 10
Revolutionizing treatment for disorders of consciousness: a multidisciplinary review of advancements in deep brain stimulation
Journal article
Yang Y. et al, (2024), Military Medical Research, 11
Theme 2: Cellular
Tapasin assembly surveillance by the RNF185/Membralin ubiquitin ligase complex regulates MHC-I surface expression
Journal article
van de Weijer ML. et al, (2024), Nature Communications, 15
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
Journal article
Nyaga DM. et al, (2024), Npj Genomic Medicine, 9
Identification of 27 allele-specific regulatory variants in Parkinson’s disease using a massively parallel reporter assay
Journal article
Farrow SL. et al, (2024), Npj Parkinson S Disease, 10
Early deficits in an in vitro striatal microcircuit model carrying the Parkinson’s GBA-N370S mutation
Journal article
Do QB. et al, (2024), Npj Parkinson S Disease, 10
Discovering genetic mechanisms underlying the co-occurrence of Parkinson’s disease and non-motor traits
Journal article
Gokuladhas S. et al, (2024), Npj Parkinson S Disease, 10
Optical genome mapping of structural variants in Parkinson’s disease-related induced pluripotent stem cells
Journal article
Trinh J. et al, (2024), BMC Genomics, 25
Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis
Journal article
Onal G. et al, (2024), Journal of Neurochemistry, 168, 2543 - 2560
Tau depletion in human neurons mitigates Aβ-driven toxicity
Journal article
Ng B. et al, (2024), Molecular Psychiatry, 29, 2009 - 2020
Astrocytes in functional recovery following central nervous system injuries
Journal article
Alhadidi QM. et al, (2024), Journal of Physiology, 602, 3069 - 3096
A fluid-walled microfluidic platform for human neuron microcircuits and directed axotomy
Journal article
Nebuloni F. et al, (2024), Lab on a Chip, 24, 3252 - 3264
Theme 3: Models
Rapid modulation of striatal cholinergic interneurons and dopamine release by satellite astrocytes
Journal article
Stedehouder J. et al, (2024), Nature Communications, 15
Impaired striatal glutathione–ascorbate metabolism induces transient dopamine increase and motor dysfunction
Journal article
Malik MY. et al, (2024), Nature Metabolism, 6, 2100 - 2117
Beta bursts in the parkinsonian cortico-basal ganglia network form spatially discrete ensembles
Journal article
Grennan I. et al, (2024), Neurobiology of Disease, 201
TEX264 drives selective autophagy of DNA lesions to promote DNA repair and cell survival
Journal article
Lascaux P. et al, (2024), Cell, 187, 5698 - 5718.e26
MiR-186-5p inhibition restores synaptic transmission and neuronal network activity in a model of chronic stress
Journal article
Rodrigues B. et al, (2024), Molecular Psychiatry, 30, 1034 - 1046
Connexin43 promotes exocytosis of damaged lysosomes through actin remodelling
Journal article
Domingues N. et al, (2024), EMBO Journal, 43, 3627 - 3649
Upregulation of cholesterol synthesis by lysosomal defects requires a functional mitochondrial respiratory chain
Journal article
Agostini F. et al, (2024), Journal of Biological Chemistry, 300
Distributional coding of associative learning in discrete populations of midbrain dopamine neurons
Journal article
Avvisati R. et al, (2024), Cell Reports, 43
Up-regulation of cholesterol synthesis by lysosomal defects requires a functional mitochondrial respiratory chain.
Journal article
Agostini F. et al, (2024), bioRxiv
2023
Theme 1: Clinical
Protocol for tissue processing and paraffin embedding of mouse brains following ex vivo MRI
Journal article
Smart A. et al, (2023), STAR Protocols, 4
Neuronally derived extracellular vesicle α-synuclein as a serum biomarker for individuals at risk of developing Parkinson disease
Journal article
Yan S. et al, (2023), JAMA Neurology, 81, 59 - 68
Development and validation of an expanded antibody toolset that captures alpha-synuclein pathological diversity in Lewy body diseases
Journal article
Altay MF. et al, (2023), Npj Parkinson S Disease, 9
Deep topographic proteomics of a human brain tumour
Journal article
Davis S. et al, (2023), Nature Communications, 14
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson’s study
Journal article
Pachchek S. et al, (2023), npj Parkinson's Disease, 9
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
Journal article
Dominik N. et al, (2023), Brain, 146, 5060 - 5069
Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer’s disease
Journal article
Sommerer Y. et al, (2023), Alzheimer's Research and Therapy, 15
Author Correction: Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson’s study (npj Parkinson's Disease, (2023), 9, 1, (156), 10.1038/s41531-023-00595-w)
Journal article
Pachchek S. et al, (2023), Npj Parkinson S Disease, 9
Investigating gait-responsive somatosensory cueing from a wearable device to improve walking in Parkinson’s disease
Journal article
Li D. et al, (2023), BioMedical Engineering Online, 22
Genetic meta-analysis of levodopa induced dyskinesia in Parkinson’s disease
Journal article
Martinez-Carrasco A. et al, (2023), npj Parkinson's Disease, 9
Theme 2: Cellular
Correction: Multi-modal proteomic characterization of lysosomal function and proteostasis in progranulin-deficient neurons (Molecular Neurodegeneration, (2023), 18, 1, (87), 10.1186/s13024-023-00673-w)
Journal article
Hasan S. et al, (2023), Molecular Neurodegeneration, 18
Integration of 3D-printed cerebral cortical tissue into an ex vivo lesioned brain slice
Journal article
Jin Y. et al, (2023), Nature Communications, 14
C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9
Journal article
Vahsen BF. et al, (2023), Nature Communications, 14
CRISPR-Cas9 genetic screen leads to the discovery of L-Moses, a KAT2B inhibitor that attenuates Tunicamycin-mediated neuronal cell death
Journal article
Pavlou S. et al, (2023), Scientific Reports, 13
Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease mechanisms and therapeutic application
Journal article
Maheshwari S. et al, (2023), Translational Neurodegeneration, 12
Multi-modal proteomic characterization of lysosomal function and proteostasis in progranulin-deficient neurons
Journal article
Hasan S. et al, (2023), Molecular Neurodegeneration, 18
Aquaporins in GtoPdb v.2023.3
Journal article
Bill RM. et al, (2023), IUPHAR/BPS Guide to Pharmacology CITE, 2023
Inhibition of striatal dopamine release by the L-type calcium channel inhibitor isradipine co-varies with risk factors for Parkinson's
Journal article
Brimblecombe K. et al, (2023), European Journal of Neuroscience, 59, 1242 - 1259
The Concise Guide to PHARMACOLOGY 2023/24: Ion channels
Journal article
Alexander SPH. et al, (2023), British Journal of Pharmacology, 180, S145 - S222
Mitochondrial dysfunction and mitophagy defects in LRRK2-R1441C Parkinson's disease models
Journal article
Williamson MG. et al, (2023), Human Molecular Genetics, 32, 2808 - 2821
Theme 3: Models
Lights, fiber, action! A primer on in vivo fiber photometry
Journal article
Simpson EH. et al, (2023), Neuron, 112, 718 - 739
Inhibition of striatal dopamine release by the L-type calcium channel inhibitor isradipine co-varies with risk factors for Parkinson's
Journal article
Brimblecombe K. et al, (2023), European Journal of Neuroscience, 59, 1242 - 1259
Axo-glial interactions between midbrain dopamine neurons and oligodendrocyte lineage cells in the anterior corpus callosum
Journal article
Caldwell M. et al, (2023), Brain Structure and Function, 228, 1993 - 2006
MiR-186-5p inhibition restores synaptic transmission and neuronal network activity in a model of chronic stress
Preprint
Carvalho AL. et al, (2023)
Discovery of CVN417, a Novel Brain-Penetrant α6-Containing Nicotinic Receptor Antagonist for the Modulation of Motor Dysfunction
Journal article
Christie LA. et al, (2023), Journal of Medicinal Chemistry, 66, 11718 - 11731
Intersectin and Endophilin condensates prime synaptic vesicles for release site replenishment.
Journal article
Ogunmowo T. et al, (2023), bioRxiv
Impaired dopamine release in Parkinson's disease
Journal article
Cramb KML. et al, (2023), Brain, 146, 3117 - 3132
A Selective Projection from the Subthalamic Nucleus to Parvalbumin-Expressing Interneurons of the Striatum
Journal article
Kondabolu K. et al, (2023), Eneuro, 10
The aperiodic exponent of subthalamic field potentials reflects excitation/inhibition balance in Parkinsonism
Journal article
Wiest C. et al, (2023), Elife, 12
Subthalamic nucleus exclusively evokes dopamine release in the tail of the striatum
Journal article
Todd K. et al, (2023), Journal of Neurochemistry