Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib-Reference-Cited by-同舟云学术

Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib

Published:2014-05-01 Issue:18 Volume:123 Page:2843-2853
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Jun Hyun Sik¹,Weinstein David A.²,Lee Young Mok¹,Mansfield Brian C.¹³,Chou Janice Y.¹

Affiliation:

1. Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD;

2. Division of Pediatric Endocrinology, Department of Pediatrics, Glycogen Storage Disease Program, University of Florida, Gainesville, FL; and

3. Foundation Fighting Blindness, Columbia, MD

Abstract

Key Points A deficiency in G6PT impairs neutrophil energy homeostasis characterized by reduced intracellular levels of G6P, ATP, lactate, and NADPH. Impaired energy homeostasis and activation of the HIF-1α/PPAR-γ pathway underlie neutrophil dysfunction in GSD-Ib.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/123/18/2843/1377439/2843.pdf

Reference49 articles.

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5. A 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

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