Associated Papers
Wings of Discovery: Using Drosophila to Decode Hereditary Spastic Paraplegia and Ataxias.
Vivarelli R et al.
Cells, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.
Cozzi M et al.
Cell Death & Disease, 2024
A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A.
Carrington G et al.
The Journal of Biological Chemistry, 2024
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
The interconnection of endoplasmic reticulum and microtubule and its implication in Hereditary Spastic Paraplegia.
Wang X et al.
Computational and Structural Biotechnology Journal, 2023
Computational study of the motor neuron protein KIF5A to identify nsSNPs, bioactive compounds, and its key regulators.
Kumar R et al.
Frontiers in Genetics, 2023
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Méreaux JL et al.
Brain : a Journal of Neurology, 2022
Genotype-phenotype correlations of KIF5A stalk domain variants.
de Boer EMJ et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
Autophagy inhibition rescues structural and functional defects caused by the loss of mitochondrial chaperone Hsc70-5 in Drosophila.
Zhu JY et al.
Autophagy, 2021
KIF5A and the contribution of susceptibility genotypes as a predictive biomarker for multiple sclerosis.
Hares K et al.
Journal of Neurology, 2021
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.
Naruse H et al.
Neurogenetics, 2021
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
Fourel G et al.
Febs Letters, 2020
Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2.
He J et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2020
Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series.
Andréasson M et al.
Neurology. Genetics, 2019
A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome.
Filosto M et al.
Journal of Clinical Medicine, 2018
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia.
Citrigno L et al.
Acta Neurologica Belgica, 2018
Structural consequences of hereditary spastic paraplegia disease-related mutations in kinesin.
Dutta M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia.
Qiu Y et al.
Annals of Clinical and Translational Neurology, 2018
Theoretical Investigations of the Role of Mutations in Dynamics of Kinesin Motor Proteins.
Misiura M et al.
The Journal of Physical Chemistry. B, 2018
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A et al.
Neuron, 2018
KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.
Rydzanicz M et al.
Clinical Genetics, 2017
Axonal motor protein KIF5A and associated cargo deficits in multiple sclerosis lesional and normal-appearing white matter.
Hares K et al.
Neuropathology and Applied Neurobiology, 2017
Impaired retrograde transport by the Dynein/Dynactin complex contributes to Tau-induced toxicity.
Butzlaff M et al.
Human Molecular Genetics, 2015
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.
Liu YT et al.
Neurology, 2014
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
Axonal transport and neurodegenerative disease: vesicle-motor complex formation and their regulation.
Anderson EN et al.
Degenerative Neurological and Neuromuscular Disease, 2014
Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia.
Kawaguchi K
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2013
Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.
Crimella C et al.
Clinical Genetics, 2012
Axonal transport deficit in a KIF5A( -/- ) mouse model.
Karle KN et al.
Neurogenetics, 2012
Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model.
Füger P et al.
Plos Genetics, 2012
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.
Musumeci O et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2011
A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport.
Wang L et al.
Molecular Neurodegeneration, 2010
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
Goizet C et al.
Human Mutation, 2009
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
Ebbing B et al.
Human Molecular Genetics, 2008
[Dysfunction of axonal transport in neuropathies and motor neuron diseases].
Millecamps S et al.
Medecine Sciences : M/s, 2008
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.
Blair MA et al.
Neurogenetics, 2006
Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias.
Soderblom C et al.
Pharmacology & Therapeutics, 2006
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.
Wilkinson PA et al.
Journal of Medical Genetics, 2005
Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.
Reid E
Journal of Medical Genetics, 2003
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
Reid E et al.
American Journal of Human Genetics, 2002