Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib-Reference-Cited by-同舟云学术

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Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib

Published:2008-12 Issue:4 Volume:95 Page:220-223
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Chen Shih-Yin,Pan Chi-Jiunn,Lee Soojung,Peng Wentao,Chou Janice Y.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference25 articles.

1. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex;Chou;Curr. Mol. Med.,2002

2. Glucose-6-phosphate transporter: the key to glycogen storage disease type Ib;Chou,2003

3. Glucose-6-phosphate hydrolase, widely expressed outside the liver, can explain age-dependent resolution of hypoglycemia in glycogen storage disease type Ia;Shieh;J. Biol. Chem.,2003

4. Histidine-167 is the phosphate acceptor in glucose-6-phosphatase-β forming a phosphohistidine-enzyme intermediate during catalysis;Ghosh;J. Biol. Chem.,2004

5. Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-β;Cheung;J. Clin. Invest.,2007

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1. Fluorodeoxyglucose-positron emission tomography as a potential alternative tool for functional diagnosis of glycogen storage disease type I;Radiology Case Reports;2023-01

2. Distantly Related Homologue of UhpT in Pseudomonas aeruginosa;Bacteria;2022-11-07

3. Biophysical and functional properties of purified glucose-6-phosphatase catalytic subunit 1;Journal of Biological Chemistry;2022-01

4. A novel SLC37A4 missense mutation in GSD‐Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis;Molecular Genetics & Genomic Medicine;2020-12-05

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