Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.


Journal

Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876

Informations de publication

Date de publication:
22 01 2019
Historique:
pubmed: 11 1 2019
medline: 26 3 2019
entrez: 11 1 2019
Statut: ppublish

Résumé

Neutropenia represents an important problem in patients with genetic deficiency in either the glucose-6-phosphate transporter of the endoplasmic reticulum (G6PT/SLC37A4) or G6PC3, an endoplasmic reticulum phosphatase homologous to glucose-6-phosphatase. While affected granulocytes show reduced glucose utilization, the underlying mechanism is unknown and causal therapies are lacking. Using a combination of enzymological, cell-culture, and in vivo approaches, we demonstrate that G6PT and G6PC3 collaborate to destroy 1,5-anhydroglucitol-6-phosphate (1,5AG6P), a close structural analog of glucose-6-phosphate and an inhibitor of low-

Identifiants

pubmed: 30626647
pii: 1816143116
doi: 10.1073/pnas.1816143116
pmc: PMC6347702
doi:

Substances chimiques

Antiporters 0
Monosaccharide Transport Proteins 0
SLC37A4 protein, human 0
Glucose-6-Phosphatase EC 3.1.3.9
G6PC3 protein, human EC 3.1.3.9.
Glucose IY9XDZ35W2

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1241-1250

Informations de copyright

Copyright © 2019 the Author(s). Published by PNAS.

Déclaration de conflit d'intérêts

The authors declare no conflict of interest.

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Auteurs

Maria Veiga-da-Cunha (M)

Walloon Excellence in Lifesciences and Biotechnology, B-1200 Brussels, Belgium; maria.veiga@uclouvain.be emile.vanschaftingen@uclouvain.be.
Groupe de Recherches Metaboliques, de Duve Institute, UCLouvain (Université Catholique de Louvain), B-1200 Brussels, Belgium.

Nathalie Chevalier (N)

Walloon Excellence in Lifesciences and Biotechnology, B-1200 Brussels, Belgium.
Groupe de Recherches Metaboliques, de Duve Institute, UCLouvain (Université Catholique de Louvain), B-1200 Brussels, Belgium.

Xavier Stephenne (X)

Service de Gastro-Entérologie et Hépatologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200 Brussels, Belgium.

Jean-Philippe Defour (JP)

Groupe de Recherches Metaboliques, de Duve Institute, UCLouvain (Université Catholique de Louvain), B-1200 Brussels, Belgium.
Biologie Hématologique, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200 Brussels, Belgium.

Nicole Paczia (N)

Luxembourg Centre for Systems Biomedicine, Université du Luxembourg, L-4367 Belvaux, Luxembourg.

Alina Ferster (A)

Department of Hematology/Oncology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, B-1020 Brussels, Belgium.

Younes Achouri (Y)

Groupe de Recherches Metaboliques, de Duve Institute, UCLouvain (Université Catholique de Louvain), B-1200 Brussels, Belgium.

Joseph P Dewulf (JP)

Walloon Excellence in Lifesciences and Biotechnology, B-1200 Brussels, Belgium.
Groupe de Recherches Metaboliques, de Duve Institute, UCLouvain (Université Catholique de Louvain), B-1200 Brussels, Belgium.

Carole L Linster (CL)

Luxembourg Centre for Systems Biomedicine, Université du Luxembourg, L-4367 Belvaux, Luxembourg.

Guido T Bommer (GT)

Walloon Excellence in Lifesciences and Biotechnology, B-1200 Brussels, Belgium.
Groupe de Recherches Metaboliques, de Duve Institute, UCLouvain (Université Catholique de Louvain), B-1200 Brussels, Belgium.

Emile Van Schaftingen (E)

Walloon Excellence in Lifesciences and Biotechnology, B-1200 Brussels, Belgium; maria.veiga@uclouvain.be emile.vanschaftingen@uclouvain.be.
Groupe de Recherches Metaboliques, de Duve Institute, UCLouvain (Université Catholique de Louvain), B-1200 Brussels, Belgium.

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Classifications MeSH