ArticleHuman molecular genetics2020
Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.
Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders.Current issues in molecular biology · 2026Review
- Non-transport functions of motor proteins in corticogenesis.Frontiers in cell and developmental biology · 2026Review
- Generation and characterization of a Cre-inducible ZNF768 overexpression mouse model.Scientific reports · 2025Article
- Organoid development and applications in gynecological cancers: the new stage of tumor treatment.Journal of nanobiotechnology · 2025Review
- Connecting neurodevelopment to neurodegeneration: a spotlight on the role of kinesin superfamily protein 2A (KIF2A).Neural regeneration research · 2024Review
- Genetic and Molecular Quality Control of Genetically Engineered Mice.Methods in molecular biology (Clifton, N.J.) · 2023Article
- KIF2A deficiency causes early-onset neurodegeneration.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Review
- Inhibitory synapse dysfunction and epileptic susceptibility associated with KIF2A deletion in cortical interneurons.Frontiers in molecular neuroscience · 2022Article
- Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2021Article
- Rational Small Molecule Treatment for Genetic Epilepsies.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Article
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Authors and funding
18 authors at 8 institutions in 2 countries.
Funding
Abstract
By using the Cre-mediated genetic switch technology, we were able to successfully generate a conditional knock-in mouse, bearing the KIF2A p.His321Asp missense point variant, identified in a subject with malformations of cortical development. These mice present with neuroanatomical anomalies and microcephaly associated with behavioral deficiencies and susceptibility to epilepsy, correlating with the described human phenotype. Using the flexibility of this model, we investigated RosaCre-, NestinCre- and NexCre-driven expression of the mutation to dissect the pathophysiological mechanisms underlying neurodevelopmental cortical abnormalities. We show that the expression of the p.His321Asp pathogenic variant increases apoptosis and causes abnormal multipolar to bipolar transition in newborn neurons, providing therefore insights to better understand cortical organization and brain growth defects that characterize KIF2A-related human disorders. We further demonstrate that the observed cellular phenotypes are likely to be linked to deficiency in the microtubule depolymerizing function of KIF2A.
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Registered trials
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