Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency-Reference-Cited by-同舟云学术

Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency

Published:2020-10 Issue:6 Volume:98 Page:613-619
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Roifman Maian¹²^ORCID,Niles Kirsten M.¹³,MacNeil Lauren⁴⁵^ORCID,Blaser Susan⁶,Noor Abdul⁷,Godoy Ruth²,Mieghem Tim³,Ryan Greg³,Seaward Gareth³,Sondheimer Neal¹,Mercimek‐Andrews Saadet¹,Schulze Andreas¹⁸,Hewson Stacy¹,Ovadia Adi⁹¹⁰,Chitayat David¹²,Morgen Eric K.⁷¹¹,Hojilla Carlo⁷,Kolomietz Elena⁷,Watkins Nicholas⁷,Häberle Johannes¹²,Shannon Patrick⁷

Affiliation:

1. Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children University of Toronto Toronto Canada

2. Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital University of Toronto Toronto Canada

3. Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, Mount Sinai Hospital University of Toronto Toronto Canada

4. Department of Pathology and Laboratory Medicine, Hospital for Sick Children University of Toronto Toronto Canada

5. Department of Medical Genetics, Alberta Precision Laboratories University of Alberta Edmonton Alberta Canada

6. Division of Neuroradiology, Department of Diagnostic Imaging, Hospital for Sick Children University of Toronto Toronto Canada

7. Department of Pathology and Laboratory Medicine, Mount Sinai Hospital University of Toronto Toronto Canada

8. Department of Biochemistry University of Toronto Toronto Canada

9. Division of Immunology, Department of Pediatrics, Sackler Faculty of Medicine Tel Aviv University, Tel Aviv, Israel Holon Israel

10. Department of Pediatrics Edith Wolfson Medical Center Holon Israel

11. BioAge Labs Richmond California USA

12. Division of Metabolism and Children's Research Center, University Children's Hospital University of Zurich Zurich Switzerland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13844

Reference15 articles.

1. Glutamine synthetase is essential in early mouse embryogenesis

2. Glutamine deprivation-mediated cell shrinkage induces ligand-independent CD95 receptor signaling and apoptosis

3. Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis

4. Congenital Glutamine Deficiency with Glutamine Synthetase Mutations

5. Inborn error of amino acid synthesis: Human glutamine synthetase deficiency

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