Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2/ mouse model-Reference-Cited by-同舟云学术

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Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2/ mouse model

Published:2021-07 Issue:3 Volume:133 Page:269-276
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Gibson Rebecca A.,Lim Jeong-A,Choi Su Jin,Flores Leticia,Clinton Lani,Bali Deeksha,Young Sarah,Asokan Aravind,Sun Baodong,Kishnani Priya S.

Funder

Duke University

Publisher

Elsevier BV

Subject

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

Reference56 articles.

1. Mutations in the testis/liver isoform of the phosphorylase kinase γ subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans;Maichele;Nat. Genet.,1996

2. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG);Kishnani;Genet. Med.,2019

3. Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure;Brushia;Front. Biosci.,1999

4. The structure of phosphorylase kinase holoenzyme at 9.9 Å resolution and location of the catalytic subunit and the substrate glycogen phosphorylase;Vénien-Bryan;Structure,2009

5. Catalytic mechanism of phosphorylase kinase probed by mutational studies;Skamnaki;Biochemistry.,1999

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Progressive Liver Disease and Dysregulated Glycogen Metabolism in Murine Gsd Ix Γ2 Models Human Disease;2024

2. Gene therapy for glycogen storage diseases;Journal of Inherited Metabolic Disease;2023-07-27

3. Synergistic action between a synthetic cannabinoid compound and tramadol in neuropathic pain rats;Acta Pharmaceutica;2022-10-18

4. A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis;International Journal of Molecular Sciences;2022-09-01

5. A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants;BMC Pediatrics;2022-05-12

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