Associated Papers
Connecting neurodevelopment to neurodegeneration: a spotlight on the role of kinesin superfamily protein 2A (KIF2A).
Ruiz-Reig N et al.
Neural Regeneration Research, 2024
KIF2A deficiency causes early-onset neurodegeneration.
Ruiz-Reig N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Primary Cilia Influence Progenitor Function during Cortical Development.
Zaidi D et al.
Cells, 2022
Inhibitory synapse dysfunction and epileptic susceptibility associated with KIF2A deletion in cortical interneurons.
Ruiz-Reig N et al.
Frontiers in Molecular Neuroscience, 2022
Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development.
Prokopenko D et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021
Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
Hatano M et al.
American Journal of Medical Genetics. Part A, 2021
Roles of developmentally regulated KIF2A alternative isoforms in cortical neuron migration and differentiation.
Akkaya C et al.
Development (cambridge, England), 2021
Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development.
Prokopenko D et al.
Medrxiv : the Preprint Server for Health Sciences, 2020
Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.
Gilet JG et al.
Human Molecular Genetics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.
Broix L et al.
Human Molecular Genetics, 2018
Recurrent KIF2A mutations are responsible for classic lissencephaly.
Cavallin M et al.
Neurogenetics, 2017
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K et al.
Nature Genetics, 2013
Modeling Neurodevelopmental Disorders and Epilepsy Caused by Loss of Function of kif2a in Zebrafish.
Partoens M et al.
Eneuro, 0