Associated Papers
Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development.
Aiken J et al.
Biorxiv : the Preprint Server for Biology, 2026
Antisense oligonucleotides to KIF1A polymorphisms expand targets and rescue patient-derived neurons in vitro.
Zuccaro MV et al.
Nature Communications, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Hereditary spastic paraplegia: from decades of therapy to future innovations.
Cipriano L et al.
Therapeutic Advances in Neurological Disorders, 2026
KIF1A-associated neurological disorders: therapeutic opportunities and challenges.
Lin Q et al.
European Journal of Human Genetics : Ejhg, 2025
Allele-specific conformational rescue of KIF1A T99M by genetic suppressors in a C. elegans model of KIF1A-associated neurological disorder.
Chen Z et al.
Journal of Cell Science, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Structural Basis of Kinesin-1 Autoinhibition and Its Control of Microtubule-Based Motility.
Ashaduzzaman M et al.
Biorxiv : the Preprint Server for Biology, 2025
Tension-induced suppression of allosteric conformational changes coordinates kinesin-1 stepping.
Makino T et al.
The Journal of Cell Biology, 2025
Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A.
Rao L et al.
Biomolecules, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D et al.
American Journal of Human Genetics, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.
Ganesan S et al.
Biorxiv : the Preprint Server for Biology, 2025
Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A.
Rao L et al.
Biorxiv : the Preprint Server for Biology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Case Report: Hereditary spastic paraplegia associated with monoallelic variant in the motor domain of KIF1A.
Sine K et al.
Frontiers in Human Neuroscience, 2025
Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.
Uhrova Meszarosova A et al.
Frontiers in Medicine, 2025
Characterizing human KIF1Bβ motor activity by single-molecule motility assays and Caenorhabditis elegans genetics.
Iguchi R et al.
Journal of Cell Science, 2024
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder.
Ziegler A et al.
Nature Medicine, 2024
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
Sudnawa KK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Cryo-EM unveils kinesin KIF1A's processivity mechanism and the impact of its pathogenic variant P305L.
Benoit MPMH et al.
Nature Communications, 2024
Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.
Xiong GJ et al.
The Journal of Cell Biology, 2024
Cryo-EM Unveils the Processivity Mechanism of Kinesin KIF1A and the Impact of its Pathogenic Variant P305L.
Benoit MPMH et al.
Biorxiv : the Preprint Server for Biology, 2023
Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.
Lin J et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2023
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder.
Chiba K et al.
Journal of Cell Science, 2023
Positive charge in the K-loop of the kinesin-3 motor KIF1A regulates superprocessivity by enhancing microtubule affinity in the one-head-bound state.
Zaniewski TM et al.
The Journal of Biological Chemistry, 2023
Force generation of KIF1C is impaired by pathogenic mutations.
Siddiqui N et al.
Current Biology : Cb, 2022
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
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Vecchia SD et al.
Journal of Neurology, 2022
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Valentino F et al.
Brain Sciences, 2021
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
Nicita F et al.
Journal of Medical Genetics, 2021
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