Associated Papers
An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.
Asmi S et al.
Ageing Research Reviews, 2026
Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.
Lu J et al.
Autophagy, 2026
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
The Aggregation Continuum of α-Synuclein and Its Relevance to Brain Aging.
Rana A et al.
Acs Chemical Neuroscience, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Development and validation of a sensitive sandwich ELISA against human PINK1.
Baninameh Z et al.
Autophagy, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Glutathione S-transferase: A keystone in Parkinson's disease pathogenesis and therapy.
Padhan P et al.
Molecular and Cellular Neurosciences, 2025
Rethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.
Yin EP et al.
Journal of Parkinson's Disease, 2025
Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.
Bonato G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
The Genetic Architecture of Parkinson's Disease in Morocco: Highlighting a Predominance of Mendelian Genes.
Bouhouche A et al.
Neuro-degenerative Diseases, 2025
Parkinson's Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.
Hong S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Non-motor symptoms of Parkinson`s disease-insights from genetics.
Jerčić KG et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2024
Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson's Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature.
Gunasekaran A et al.
Journal of Movement Disorders, 2024
Iron-sulfur cluster loss in mitochondrial CISD1 mediates PINK1 loss-of-function phenotypes.
Bitar S et al.
Elife, 2024
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 2024
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
Polygenic Risk Scores Validated in Patient-Derived Cells Stratify for Mitochondrial Subtypes of Parkinson's Disease.
Arena G et al.
Annals of Neurology, 2024
Upregulated ECM genes and increased synaptic activity in Parkinson's human DA neurons with PINK1/ PRKN mutations.
Tripathi U et al.
Npj Parkinson's Disease, 2024
Basal activity of PINK1 and PRKN in cell models and rodent brain.
Watzlawik JO et al.
Autophagy, 2024
Understanding monogenic Parkinson's disease at a global scale.
Junker J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Generation of induced pluripotent stem cells, KCi005-A derived from a female with Parkinsońs disease and homozygous for the PINK1 variant c.1366C > T, p.Gln456.
Jonsgaard Larsen L et al.
Stem Cell Research, 2024
A reversible state of hypometabolism in a human cellular model of sporadic Parkinson's disease.
Schmidt S et al.
Nature Communications, 2023
Mitochondria-Endoplasmic Reticulum Contact Sites Dynamics and Calcium Homeostasis Are Differentially Disrupted in PINK1-PD or PRKN-PD Neurons.
Grossmann D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Generation of induced pluripotent stem cells, KCi004-A derived from a male with Parkinson's disease and homozygous for the PINK1 variant c.1366C > T, p.Gln456.
Jonsgaard Larsen L et al.
Stem Cell Research, 2023
Recent advances in novel mutation genes of Parkinson's disease.
Yang J et al.
Journal of Neurology, 2023
Defects in Mitochondrial Biogenesis Drive Mitochondrial Alterations in PINK1-deficient Human Dopamine Neurons.
Wang H et al.
Biorxiv : the Preprint Server for Biology, 2023
Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan.
Bakhit Y et al.
Parkinsonism & Related Disorders, 2023
Gene Panel Sequencing Analysis Revealed a Strong Contribution of Rare Coding Variants to the Risk of Parkinson's Disease in Sporadic Moroccan Patients.
Smaili I et al.
Journal of Molecular Neuroscience : Mn, 2023
Deficiency of RAB39B Activates ER Stress-Induced Pro-apoptotic Pathway and Causes Mitochondrial Dysfunction and Oxidative Stress in Dopaminergic Neurons by Impairing Autophagy and Upregulating α-Synuclein.
Chiu CC et al.
Molecular Neurobiology, 2023
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
Unraveling the Complex Interplay between Alpha-Synuclein and Epigenetic Modification.
Sugeno N et al.
International Journal of Molecular Sciences, 2023
Pain in monogenic Parkinson's disease: a comprehensive review.
Alizadeh P et al.
Frontiers in Neurology, 2023
Post-translational modification and mitochondrial function in Parkinson's disease.
Luo S et al.
Frontiers in Molecular Neuroscience, 2023
Parkinson's Disease Phenotypes in Patient Neuronal Cultures and Brain Organoids Improved by 2-Hydroxypropyl-β-Cyclodextrin Treatment.
Jarazo J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Parkin beyond Parkinson's Disease-A Functional Meaning of Parkin Downregulation in TDP-43 Proteinopathies.
Gaweda-Walerych K et al.
Cells, 2021
Disruption of Mitochondrial Homeostasis: The Role of PINK1 in Parkinson's Disease.
Vizziello M et al.
Cells, 2021
Sensitive ELISA-based detection method for the mitophagy marker p-S65-Ub in human cells, autopsy brain, and blood samples.
Watzlawik JO et al.
Autophagy, 2021
Modelling Parkinson's Disease: iPSCs towards Better Understanding of Human Pathology.
Avazzadeh S et al.
Brain Sciences, 2021
Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease.
Smaili I et al.
Journal of Molecular Neuroscience : Mn, 2021
Genetics of Parkinson's disease in the Polish population.
Milanowski ŁM et al.
Neurologia I Neurochirurgia Polska, 2021
PARK Genes Link Mitochondrial Dysfunction and Alpha-Synuclein Pathology in Sporadic Parkinson's Disease.
Li W et al.
Frontiers in Cell and Developmental Biology, 2021