Associated Papers
Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development.
Aiken J et al.
Biorxiv : the Preprint Server for Biology, 2026
KIF1A-associated neurological disorders: therapeutic opportunities and challenges.
Lin Q et al.
European Journal of Human Genetics : Ejhg, 2025
Pathogenic KIF1A R350 Variants Disrupt A Conserved Kinesin-Tubulin Salt Bridge.
Shatarupa A et al.
Biorxiv : the Preprint Server for Biology, 2025
Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions.
Salari M et al.
Neurology. Genetics, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
The FHA domain is essential for autoinhibition of KIF1A/UNC-104 proteins.
Niwa S et al.
Journal of Cell Science, 2024
Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.
Xiong GJ et al.
The Journal of Cell Biology, 2024
KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.
Ghafoor S et al.
The International Journal of Neuroscience, 2024
Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder.
Chiba K et al.
Journal of Cell Science, 2023
KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease.
Nair A et al.
Pharmaceuticals (basel, Switzerland), 2023
How neurons maintain their axons long-term: an integrated view of axon biology and pathology.
Smith G et al.
Frontiers in Neuroscience, 2023
De novo mutations in KIF1A-associated neuronal disorder (KAND) dominant-negatively inhibit motor activity and axonal transport of synaptic vesicle precursors.
Anazawa Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
Boyle L et al.
Hgg Advances, 2021
Pathogenic mutations in the kinesin-3 motor KIF1A diminish force generation and movement through allosteric mechanisms.
Budaitis BG et al.
The Journal of Cell Biology, 2021
The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.
Aguilera C et al.
Frontiers in Neuroscience, 2021
Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene.
Van Beusichem AE et al.
Neuropediatrics, 2020
A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia.
Kurihara M et al.
Internal Medicine (tokyo, Japan), 2020
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M et al.
European Journal of Human Genetics : Ejhg, 2020
A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity.
Guo Y et al.
Frontiers in Genetics, 2020
Disease-associated mutations hyperactivate KIF1A motility and anterograde axonal transport of synaptic vesicle precursors.
Chiba K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia.
Gabrych DR et al.
Frontiers in Cellular Neuroscience, 2019
Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.
Cheon CK et al.
Scientific Reports, 2017
Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.
Krenn M et al.
European Journal of Neurology, 2017
Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family.
Hasegawa A et al.
Journal of the Neurological Sciences, 2017
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
Kuperberg M et al.
Journal of Child Neurology, 2016
The Drosophila KIF1A Homolog unc-104 Is Important for Site-Specific Synapse Maturation.
Zhang YV et al.
Frontiers in Cellular Neuroscience, 2016
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
Ylikallio E et al.
European Journal of Human Genetics : Ejhg, 2015
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
Esmaeeli Nieh S et al.
Annals of Clinical and Translational Neurology, 2015
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Lee JR et al.
Human Mutation, 2015
The vesicle protein SAM-4 regulates the processivity of synaptic vesicle transport.
Zheng Q et al.
Plos Genetics, 2014
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Klebe S et al.
European Journal of Human Genetics : Ejhg, 2012