KIF5A Antibody

1. This study identified three pathogenic KIF5A mutations in Korean Charcot-Marie-Tooth neuropathy type 2 patients by whole exome sequencing. Two mutations (p.Arg204Trp and p.Arg280His) were previously reported, but p.Leu558Pro was determined to be a novel de novo mutation. PMID: 29892902
2. We conclude that reduced expression of axonal motor KIF5A may have important implications in determining axonal transport deficits and ongoing neurodegeneration in multiple sclerosis PMID: 26785938
3. Kinesin family member 5A protein (Kif5A) with hereditary spastic paraplegia (HSP)-causing mutations showed a variety of significantly reduced catalytic and mechanical activities as a result of each mutation, with the shared phenotype from each that motility was significantly reduced. PMID: 28678816
4. Variants in SPAST and KIF5A were the most common causes of autosomal dominant hereditary spastic paraplegia in Greece. The first nonsense mutation in KIF5A was identified in HSP patient. PMID: 26374131
5. De novo stop-loss frameshift variants in KIF5A result in a novel phenotype that includes severe infantile onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. PMID: 27463701
6. KIF5A p.Ser974fs de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy. PMID: 27414745
7. Zinc ion-mediated inhibition of KIF5A activity might be one molecular cause contributing to impaired transport processes within brain and other organs in cases of zinc dyshomeostasis. PMID: 28122263
8. This report describes the first known Asian family with a KIF5A mutation and broadens the clinical and electrophysiological spectrum associated with KIF5A-SPG10 mutations. PMID: 27084214
9. study describes 2 Spanish families with an adult onset complicated autosomal dominant hereditary spastic paraplegia with a mild sensory neuropathy; identified 2 novel mutations c.773 C>T and c.833 C>T in the KIF5A gene resulting in the P258L and P278L substitutions; both were located in the highly conserved kinesin motor domain of the protein PMID: 26403765
10. Kinesin-14 blocks microtubule nucleation in yeast and reveal that this inhibition is countered by the kinesin-5 protein, Cut7.[Cut7, Pkl1] PMID: 25348260
11. the novel mutation p.Leu259Gln in two siblings affected by Hereditary spastic paraplegia (HSP) complicated by deafness and in their father with a pure form of HSP. PMID: 24939576
12. Combining next-generation sequencing and conventional sequencing, study confirms that KIF5A mutations can cause variable phenotypes ranging from hereditary spastic paraplegia to Charcot-Marie-Tooth disease type 2 PMID: 25008398
13. Conformations of microtubule-bound human kinesin-5 motor domain were visualised at successive steps in its ATPase cycle. PMID: 24449904
14. A review of the mechanism of pathogenesis involved in spastic paraplegia type 10 when KIF5A is inactivated by mutations. PMID: 22785106
15. Data suggest that the impairment of the microtubule-kinesin function by alpha-synuclein oligomers drives early neurite pathology. PMID: 23744071
16. This study extends the phenotype of SPG10 and argues for abnormalities in the axonal vesicular transport. PMID: 22788249
17. These results provide an insight into the molecular mechanisms of KIF5A, which regulate inhibitory neural transmission and KIF5A deletion causes epilepsy. PMID: 23217743
18. The results obtained indicate a KIF5A mutation frequency of 8.8% in the Italian HSP population and identify a region of the kinesin protein, the stalk domain, as a novel target for mutation. PMID: 21623771
19. Molecular genetic analysis identified a new missense mutation of KIF5A gene causing hereditary spastic paraplegia PMID: 21107874
20. Kinesin (KIF5A) can be potentially used as a blood biomarker to identify asbestosis patients at risk of developing lung cancer. PMID: 21231887
21. rs1678542 in KIF5A confers susceptibility for multiple sclerosis. PMID: 20508602
22. identification of a missense mutation in the motor domain of the neuronal kinesin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia PMID: 12355402
23. An autosomal dominant phenotype for hereditary spastic paraplegia is due to a new missense mutation 838C>T (R280C) at an invariant arginine residue in a region involved in the microtubule-binding activity. PMID: 15452312
24. novel missense mutation in the KIF5A gene in a large kindred with uncomplicated autosomal dominant hereditary spastic paraplegia with an adult age of symptom onset PMID: 16489470
25. All mutations in KIF5A are single amino-acid exchanges and located in kinesin's motor or neck domain and the mutation in the neck (A361V) did not change the gliding properties in vitro. PMID: 18203753
26. Three novel KIF5A mutations were detected in German families, including one missense mutation (c.759G>T, p.K253N), one in frame deletion (c.768_770delCAA, p.N256del) and one splice site mutation (c.217G>A). PMID: 18245137
27. In this study identified a novel missense mutation in KIF5A in an Italy family. PMID: 18500496
28. The neck linker and the neck are involved not only in motility generation in general and in determination of movement direction, but also in velocity regulation. PMID: 18640125
29. SPG10 mutations were found in 10% of our complicated forms of Hereditary spastic paraplegias (HSP), suggesting that mutations in KIF5A represent the major cause of complicated autosomal dominant hereditary spastic paraplegia in France. PMID: 18853458

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HGNC: 6323

OMIM: 602821

KEGG: hsa:3798

STRING: 9606.ENSP00000408979

UniGene: Hs.151219