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Article

KIF1A mutation in a patient with progressive neurodegeneration.

Journal of human genetics - 1 Nov 2014

Okamoto Nobuhiko, Miya Fuyuki, Tsunoda Tatsuhiko, Yanagihara Keiko, Kato Mitsuhiro, Saitoh Shinji, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro

Abstract excerpt

Kinesins are a large superfamily of molecular motors. They move along microtubule filaments and are powered by the hydrolysis of ATP. This transport system is essential for neuronal function and survival. KIF1A belongs to the kinesin 3 family and involves in the anterograde transport of synaptic vesicle precursors along axons. Several studies confirmed that KIF1A mutations cause spastic paraplegia and sensory...

Topics

Child
Disease Progression
Exome
Genetic Predisposition to Disease
Humans
Kinesins
Male
Mutation, Missense
Neurodegenerative Diseases
Sequence Analysis, DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 25253658
DOI: 10.1038/jhg.2014.80

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