ArticleNPJ Parkinson's disease2023
Parkinsonism mutations in DNAJC6 cause lipid defects and neurodegeneration that are rescued by Synj1.
Article in NPJ Parkinson's disease, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Synaptojanin1 regulates synaptic dopamine release and axonal integrity via retromer-dependent endosomal sorting.Research square · 2026Article
- DNAJC6 Parkinson's disease: Endolysosomal dysfunction and emerging roles for oligodendrocytes.NPJ Parkinson's disease · 2026Review
- New insights into synaptic vesicle dysfunction in Parkinson's disease.Journal of Parkinson's disease · 2026Review
- Roles in physiology and disease of the inositol phosphatase synaptojanin 1.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2026Review
- Pathway Analysis and Genetic Markers in Parkinson's Disease: Insights into Subtype-Specific Mechanisms.Molecular neurobiology · 2025Article
- Lipid metabolism in health and disease: Mechanistic and therapeutic insights for Parkinson's disease.Chinese medical journal · 2025Review
- Article
- Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?NPJ Parkinson's disease · 2024Article
- A candidate loss-of-function variant in SGIP1 causes synaptic dysfunction and recessive parkinsonism.Cell reports. Medicine · 2024Article
- Parkinson's disease-associated shifts between DNA methylation and DNA hydroxymethylation in human brain in PD-related genes, including PARK19 (DNAJC6) and PTPRN2 (IA-2β).Research square · 2024Article
- Are rare heterozygousmedRxiv : the preprint server for health sciences · 2024Article
- Aneuploidy is Linked to Neurological Phenotypes Through Oxidative Stress.Journal of molecular neuroscience : MN · 2024Article
- Advancements in Genetic and Biochemical Insights: Unraveling the Etiopathogenesis of Neurodegeneration in Parkinson's Disease.Biomolecules · 2024Review
- Cyclin-G-associated kinase GAK/dAux regulates autophagy initiation via ULK1/Atg1 in glia.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Dopamine transporter and synaptic vesicle sorting defects underlie auxilin-associated Parkinson's disease.Cell reports · 2023Article
- Myotonic Dystrophy-1 and Parkinson's Disease: Clarify the Role of CTG-repeat Size and Variants inAnnals of Indian Academy of NeurologyArticle
Corrections and comments
- Erratum issued
Authors and funding
11 authors.
Funding
Abstract
Recent evidence links dysfunctional lipid metabolism to the pathogenesis of Parkinson's disease, but the mechanisms are not resolved. Here, we generated a new Drosophila knock-in model of DNAJC6/Auxilin and find that the pathogenic mutation causes synaptic dysfunction, neurological defects and neurodegeneration, as well as specific lipid metabolism alterations. In these mutants, membrane lipids containing long-chain polyunsaturated fatty acids, including phosphatidylinositol lipid species that are key for synaptic vesicle recycling and organelle function, are reduced. Overexpression of another protein mutated in Parkinson's disease, Synaptojanin-1, known to bind and metabolize specific phosphoinositides, rescues the DNAJC6/Auxilin lipid alterations, the neuronal function defects and neurodegeneration. Our work reveals a functional relation between two proteins mutated in Parkinsonism and implicates deregulated phosphoinositide metabolism in the maintenance of neuronal integrity and neuronal survival.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.