Home【Research Keywords】
Neurogenetics, Amyotrophic Lateral Sclerosis, Spinocerebellar Degeneration
【Recent highlights】
We identified OPTN and LRP12 as causative genes for amyotrophic lateral sclerosis, and CACNA1G as a causative gene for spinocerebellar ataxia.
【Department of Epidemiology】
| Name | Title |
| Kodai Kume | Associate Professor |
【Major Papers of the Laboratory】
・CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis. Am J Hum Genet. 2023 Jul 6;110(7):1086-1097. doi: 10.1016/j.ajhg.2023.05.014.
・A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia. Mol Brain. 2015 Dec 29;8:89. doi: 10.1186/s13041-015-0180-4.
・Mutations of optineurin in amyotrophic lateral sclerosis. Nature. 2010 May 13;465(7295):223-6. doi: 10.1038/nature08971.
【Education】
Genetics, Genetic analysis for disease causing genes
【Research】
We analyze disease-causing genes for genetic neurological disorders.
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