Associated Papers
Pathogenic KIF5C mutation disrupts dendritic spine maturation and mitochondrial trafficking in neurodevelopmental disorders.
Wang X et al.
Neurobiology of Disease, 2025
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.
Gracie S et al.
American Journal of Medical Genetics. Part A, 2025
A novel in-frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation.
Banerjee S et al.
Medcomm, 2024
A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A.
Carrington G et al.
The Journal of Biological Chemistry, 2024
38309508 (PubMed )
Supplement: mmc1.pdf
Characterization of the disease-causing mechanism of KIF3B mutations from ciliopathy patients.
Adams JM et al.
Frontiers in Molecular Biosciences, 2024
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
37946251 (PubMed )
Supplement: 13073_2023_1240_MOESM2_ESM.docx
UNC-116 and UNC-16 function with the NEKL-3 kinase to promote axon targeting.
Drozd CJ et al.
Development (cambridge, England), 2023
KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice.
Li W et al.
Pediatric Research, 2022
Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.
Michels S et al.
American Journal of Medical Genetics. Part A, 2017
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.
Cavallin M et al.
Neurogenetics, 2016
Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
Willemsen MH et al.
Journal of Medical Genetics, 2014
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K et al.
Nature Genetics, 2013
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