ArticleActa neuropathologica communications2019
Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene.
Article in Acta neuropathologica communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 40 citations in OpenAlex.
- Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.Movement disorders clinical practice · 2024Review
- Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered byInternational journal of biological sciences · 2024Article
- Brain organoid as a model to study the role of mitochondria in neurodevelopmental disorders: achievements and weaknesses.Frontiers in cellular neuroscience · 2024Review
- Proteomic analysis across patient iPSC-based models and human post-mortem hippocampal tissue reveals early cellular dysfunction and progression of Alzheimer's disease pathogenesis.Acta neuropathologica communications · 2023Article
- Parkinson's disease and multiple system atrophy patient iPSC-derived oligodendrocytes exhibit alpha-synuclein-induced changes in maturation and immune reactive properties.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Recent progresses in novelFrontiers in bioengineering and biotechnology · 2022Review
- Human Brain-Based Models Provide a Powerful Tool for the Advancement of Parkinson's Disease Research and Therapeutic Development.Frontiers in neuroscience · 2022Review
- Insights into Lewy body disease from rare neurometabolic disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- The intracellular milieu of Parkinson's disease patient brain cells modulates alpha-synuclein protein aggregation.Acta neuropathologica communications · 2021Article
- Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?International journal of molecular sciences · 2021Review
- A case of drug-induced parkinsonism and tardive akathisia with e1143g polymerase γ mutation-innocent bystander or a culprit?Journal of clinical and translational research · 2021Article
- Engineering organoids.Nature reviews. Materials · 2021Review
- Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations.EMBO molecular medicine · 2020Article
- Resolving Metabolic Heterogeneity in Experimental Models of the Tumor Microenvironment from a Stable Isotope Resolved Metabolomics Perspective.Metabolites · 2020Review
- Demonstration of brain region-specific neuronal vulnerability in human iPSC-based model of familial Parkinson's disease.Human molecular genetics · 2020Article
- Patient-Derived Midbrain Organoids to Explore the Molecular Basis of Parkinson's Disease.Frontiers in neurology · 2020Review
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
Abstract
Variations in the POLG1 gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma, have recently been associated with Parkinson's disease (PD), especially in patients diagnosed with progressive external ophthalmoplegia (PEO). However, the majority of the studies reporting this association mainly focused on the genetic identification of the variation in POLG1 in PD patient primary cells, and determination of mitochondrial DNA copy number, providing little information about the cellular alterations existing in patient brain cells, in particular dopaminergic neurons. Therefore, through the use of induced pluripotent stem cells (iPSCs), we assessed cellular alterations in novel p.Q811R POLG1 (POLG1
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