ArticlePLoS biology2019
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
Article in PLoS biology, 2019. 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 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Association between the LRP1B and APOE loci and the development of Parkinson's disease dementia.Brain : a journal of neurology · 2023Pooled it
- In situ proteomics unveils specialized domains for extrasynaptic signaling on neuronal cilia.Science advances · 2026Article
- BBSome: An essential component of hypothalamic regulation of energy homeostasis.Reviews in endocrine & metabolic disorders · 2026Review
- Bardet-Biedl syndrome in two sibling pairs: a case series.Journal of medical case reports · 2026Article
- Haploinsufficiency of intraflagellar transport protein 172 causes autism-like behavioral phenotypes in mice through BDNF.Journal of advanced research · 2025Article
- Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond.eLife · 2023Review
- Behavioral Phenotyping of Bbs6 and Bbs8 Knockout Mice Reveals Major Alterations in Communication and Anxiety.International journal of molecular sciences · 2022Article
- Genetic obesity: an update with emerging therapeutic approaches.Annals of pediatric endocrinology & metabolism · 2022Article
- The role of ciliopathy-associated type 3 adenylyl cyclase in infanticidal behavior in virgin adult male mice.iScience · 2022Article
- Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Ciliary signaling proteins are mislocalized in the brains of Bardet-Biedl syndrome 1-null mice.Frontiers in cell and developmental biology · 2022Article
- BBS4 protein has basal body/ciliary localization in sensory organs but extra-ciliary localization in oligodendrocytes during human development.Cell and tissue research · 2021Article
- A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment.PLoS genetics · 2021Article
- Article
- Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.PLoS biology · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
17 authors at 6 institutions in 3 countries.
Funding
Abstract
Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, obesity, kidney failure, and cognitive impairment. In spite of progress made in our general understanding of BBS aetiology, the molecular and cellular mechanisms underlying cognitive impairment in BBS remain elusive. Here, we report that the loss of BBS proteins causes synaptic dysfunction in principal neurons, providing a possible explanation for the cognitive impairment phenotype observed in BBS patients. Using synaptosomal proteomics and immunocytochemistry, we demonstrate the presence of Bbs proteins in the postsynaptic density (PSD) of hippocampal neurons. Loss of Bbs results in a significant reduction of dendritic spines in principal neurons of Bbs mouse models. Furthermore, we show that spine deficiency correlates with events that destabilise spine architecture, such as impaired spine membrane receptor signalling, known to be involved in the maintenance of dendritic spines. Our findings suggest a role for BBS proteins in dendritic spine homeostasis that may be linked to the cognitive phenotype observed in BBS.
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