ArticleAmerican journal of human genetics2014
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
What it found
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Who cites it
34 citing papers in PubMed, 53 citations in OpenAlex.
- The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.Annals of neurology · 2026Article
- Mechanistic Target of Rapamycin and Megalencephaly: Novel Research Strategies for Therapeutic Discovery.Epilepsy currents · 2026Article
- Kaptin-Actin Binding Protein (KPTN)-Related Disorder: A Case Report of Two Siblings Harboring a Novel KPTN Mutation.Cureus · 2025Article
- Architecture of the human KICSTOR and GATOR1-KICSTOR complexes.Nature structural & molecular biology · 2025Article
- mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.Orphanet journal of rare diseases · 2025Review
- Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.American journal of human genetics · 2025Article
- The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development.Genes & diseases · 2024Review
- Ragopathies and the rising influence of RagGTPases on human diseases.Nature communications · 2024Review
- Central Causation of Autism/ASDs via Excessive [CaBrain sciences · 2024Review
- Review
- Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.Journal of autism and developmental disorders · 2024Review
- Structures and Functions of the Human GATOR1 Complex.Sub-cellular biochemistry · 2024Review
- Review
- Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.Brain : a journal of neurology · 2023Article
- Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.Clinical genetics · 2023Article
- Insight into Genetic Mutations of SZT2: Is It a Syndrome?Biomedicines · 2023Article
- Early-life exercise primes the murine neural epigenome to facilitate gene expression and hippocampal memory consolidation.Communications biology · 2023Article
- Brain-enriched RagB isoforms regulate the dynamics of mTORC1 activity through GATOR1 inhibition.Nature cell biology · 2022Article
- Case report:Frontiers in neurology · 2022Article
- A novel pyroptosis-regulated gene signature for predicting prognosis and immunotherapy response in hepatocellular carcinoma.Frontiers in molecular biosciences · 2022Article
Corrections and comments
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Authors and funding
19 authors at 9 institutions in 3 countries.
Funding
Abstract
The proper development of neuronal circuits during neuromorphogenesis and neuronal-network formation is critically dependent on a coordinated and intricate series of molecular and cellular cues and responses. Although the cortical actin cytoskeleton is known to play a key role in neuromorphogenesis, relatively little is known about the specific molecules important for this process. Using linkage analysis and whole-exome sequencing on samples from families from the Amish community of Ohio, we have demonstrated that mutations in KPTN, encoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures. Our immunofluorescence analyses in primary neuronal cell cultures showed that endogenous and GFP-tagged kaptin associates with dynamic actin cytoskeletal structures and that this association is lost upon introduction of the identified mutations. Taken together, our studies have identified kaptin alterations responsible for macrocephaly and neurodevelopmental delay and define kaptin as a molecule crucial for normal human neuromorphogenesis.
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What OpenQuestion holds
Registered trials
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.