Molecular biology and gene therapy for glycogen storage disease type Ib.

doi:10.1007/s10545-018-0180-5

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Article

Molecular biology and gene therapy for glycogen storage disease type Ib.

Journal of inherited metabolic disease - 1 Nov 2018

Chou Janice Y, Cho Jun-Ho, Kim Goo-Young, Mansfield Brian C

Abstract excerpt

Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the ubiquitously expressed glucose-6-phosphate (G6P) transporter (G6PT or SLC37A4). The primary function of G6PT is to translocate G6P from the cytoplasm into the lumen of the endoplasmic reticulum (ER). Inside the ER, G6P is hydrolyzed to glucose and phosphate by either the liver/kidney/intestine-restricted glucose-6-phosphatase-α (G6Pase-α)...

Topics

Animals
Antiporters
Blood Glucose
Dependovirus
Genetic Therapy
Genetic Vectors
Glycogen Storage Disease Type I
Homeostasis
Humans
Mice
Mice, Knockout
Monosaccharide Transport Proteins
Mutation

Source

Open in PubMed

Identifiers

PMID: 29663270
DOI: 10.1007/s10545-018-0180-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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