Varaico: Literature-Extracted Genetic Variants

Gene:KIF5A
Variant:p.K362N
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KIF5A

NM_004984.4:p.K362N

Associated Papers

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.

Dulski J et al.

Hgg Advances, 2026

Advancing neurogenetics in Africa: past achievements, current developments and shaping the future.

Landouré G et al.

Nature Reviews. Neurology, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG10

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

38309508 (PubMed )
Supplement: mmc1.pdf

Hereditary spastic paraplegia in Mali: epidemiological and clinical features.

Diarra S et al.

Acta Neurologica Belgica, 2023

A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.

Mahungu AC et al.

Orphanet Journal of Rare Diseases, 2022

Genotype-phenotype correlations of KIF5A stalk domain variants.

de Boer EMJ et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

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

A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.

Guinto CO et al.

Annals of Clinical and Translational Neurology, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."