Mutational and functional analysis of Glucose transporter I deficiency syndrome.

doi:10.1016/j.ymgme.2015.08.006

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Article

Mutational and functional analysis of Glucose transporter I deficiency syndrome.

Molecular genetics and metabolism - 1 Nov 2015

Nakamura Sachie, Osaka Hitoshi, Muramatsu Shinichi, Aoki Shiho, Jimbo Eriko F, Yamagata Takanori

Abstract excerpt

OBJECTIVE: We investigated a correlation between a mutation in the SLC2A1 gene and functional disorders in Glucose transporter I deficiency syndrome (GLUT1DS). METHODS: We performed direct sequence analysis of SLC2A1 in a severe GLUT1DS patient and identified a novel frame shift mutation, c.906_907insG, p.V303fs. We created a plasmid vector carrying the c.906_907insG mutation, as well as A405D or R333W in the...

Topics

Adolescent
Carbohydrate Metabolism, Inborn Errors
Deoxyglucose
Frameshift Mutation
Genotype
Glucose Transporter Type 1
HEK293 Cells
Humans
Male
Monosaccharide Transport Proteins
Sequence Analysis, DNA

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Open in PubMed

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PMID: 26304067
DOI: 10.1016/j.ymgme.2015.08.006

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