ArticleProceedings of the National Academy of Sciences of the United States of America2009
Upregulation of three Drosophila homologs of human chromosome 21 genes alters synaptic function: implications for Down syndrome.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 76 citations in OpenAlex.
- Review
- Triplication ofCurrent Alzheimer research · 2022Article
- Down Syndrome Fetal Fibroblasts Display Alterations of Endosomal Trafficking Possibly due to SYNJ1 Overexpression.Frontiers in genetics · 2022Article
- All Creatures Great and Small: New Approaches for Understanding Down Syndrome Genetics.Trends in genetics : TIG · 2021Review
- Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome.Human genetics · 2020Article
- RCAN1 Inhibits BACE2 Turnover by Attenuating Proteasome-Mediated BACE2 Degradation.BioMed research international · 2020Article
- PERK-Mediated Unfolded Protein Response Activation and Oxidative Stress in PARK20 Fibroblasts.Frontiers in neuroscience · 2019Article
- A third copy of the Down syndrome cell adhesion molecule (Dscam) causes synaptic and locomotor dysfunction in Drosophila.Neurobiology of disease · 2018Article
- Article
- Article
- Allele-Specific Phenotype Suggests a Possible Stimulatory Activity of RCAN-1 on Calcineurin inMolecules and cells · 2016Article
- Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders.Neural plasticity · 2016Review
- Down Syndrome: Current Status, Challenges and Future Perspectives.International journal of molecular and cellular medicine · 2016Review
- Aberrant Expression of Histone Deacetylases 4 in Cognitive Disorders: Molecular Mechanisms and a Potential Target.Frontiers in molecular neuroscience · 2016Review
- Analysis of Amyloid Precursor Protein Function in Drosophila melanogaster.Frontiers in molecular neuroscience · 2016Review
- New Perspectives for the Rescue of Cognitive Disability in Down Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.Nature reviews. Neuroscience · 2015Review
- Pituitary Adenylate Cyclase-activating Polypeptide (PACAP) Targets Down Syndrome Candidate Region 1 (DSCR1/RCAN1) to control Neuronal Differentiation.The Journal of biological chemistry · 2015Article
- Exploring the Phenotypic Space and the Evolutionary History of a Natural Mutation in Drosophila melanogaster.Molecular biology and evolution · 2015Article
- Dissecting Alzheimer disease in Down syndrome using mouse models.Frontiers in behavioral neuroscience · 2015Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
At the neuronal level of Down syndrome (DS) brains, there are evidences of altered shape, number, and density of synapses, as well as aberrant endocytosis associated with accumulation of enlarged endosomes, suggesting that proteins involved in synaptic vesicle recycling may play key roles in DS neurons. However, the exact mechanism underlying those anomalies is not well understood. We hypothesize that overexpression of three genes, dap160/itsn1, synj/synj1, and nla/dscr1, located on human chromosome 21 play important roles in DS neurons. Here, we systematically investigate the effects of multiple gene overexpression on synaptic morphology and endocytosis to identify possible dominant gene or genes. We found that overexpression of individual genes lead to abnormal synaptic morphology, but all three genes are necessary to cause impaired vesicle recycling and affect locomotor vigor. Furthermore, we report that dap160 overexpression alters the subcellular distribution of synaptojanin, and overexpression of nla regulates the phosphoinositol 5' phosphatase activity of synaptojanin. These findings imply that restoring the level of any one of these genes may reduce endocytic defects seen in DS.
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