ArticleTranslational psychiatry2013
Common exonic missense variants in the C2 domain of the human KIBRA protein modify lipid binding and cognitive performance.
Article in Translational psychiatry, 2013. 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, 33 citations in OpenAlex.
- Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.The Journal of biological chemistry · 2024Article
- WWC1/2 regulate spinogenesis and cognition in mice by stabilizing AMOT.Cell death & disease · 2023Article
- KIBRA regulates activity-induced AMPA receptor expression and synaptic plasticity in an age-dependent manner.iScience · 2022Article
- Analysis and Interpretation of the Impact of Missense Variants in Cancer.International journal of molecular sciences · 2021Review
- Review
- Molecular Analysis of Membrane Targeting by the C2 Domain of the E3 Ubiquitin Ligase Smurf1.Biomolecules · 2020Article
- Polyphosphoinositide-Binding Domains: Insights from Peripheral Membrane and Lipid-Transfer Proteins.Advances in experimental medicine and biology · 2019Review
- Distinctive phosphoinositide- and CaThe Journal of biological chemistry · 2018Article
- A novel approach to genome-wide association analysis identifies genetic associations with primary biliary cholangitis and primary sclerosing cholangitis in Polish patients.BMC medical genomics · 2017Article
- MNRR1, a Biorganellar Regulator of Mitochondria.Oxidative medicine and cellular longevity · 2017Review
- Exome Sequence Data From Multigenerational Families Implicate AMPA Receptor Trafficking in Neurocognitive Impairment and Schizophrenia Risk.Schizophrenia bulletin · 2016Article
- Genetic Association Between KIBRA Polymorphism and Alzheimer's Disease with in a Japanese Population.Neuromolecular medicine · 2015Article
- Deletion of KIBRA, protein expressed in kidney and brain, increases filopodial-like long dendritic spines in neocortical and hippocampal neurons in vivo and in vitro.Frontiers in neuroanatomy · 2015Article
- Single nucleotide variations: biological impact and theoretical interpretation.Protein science : a publication of the Protein Society · 2014Review
- Cellular and molecular interactions of phosphoinositides and peripheral proteins.Chemistry and physics of lipids · 2014Review
- KIBRA: In the brain and beyond.Cellular signalling · 2014Article
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Authors and funding
25 authors at 7 institutions in 2 countries.
Funding
Abstract
The human KIBRA gene has been linked to human cognition through a lead intronic single-nucleotide polymorphism (SNP; rs17070145) that is associated with episodic memory performance and the risk to develop Alzheimer's disease. However, it remains unknown how this relates to the function of the KIBRA protein. Here, we identified two common missense SNPs (rs3822660G/T [M734I], rs3822659T/G [S735A]) in exon 15 of the human KIBRA gene to affect cognitive performance, and to be in almost complete linkage disequilibrium with rs17070145. The identified SNPs encode variants of the KIBRA C2 domain with distinct Ca(2+) dependent binding preferences for monophosphorylated phosphatidylinositols likely due to differences in the dynamics and folding of the lipid-binding pocket. Our results further implicate the KIBRA protein in higher brain function and provide direction to the cellular pathways involved.
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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.