A novel SLC37A4 missense mutation in GSD‐Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis-Reference-Cited by-同舟云学术

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A novel SLC37A4 missense mutation in GSD‐Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis

Published:2020-12-05 Issue:1 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Xu Qianyun¹^ORCID,Tang Haiyan²,Duan Liping¹,Zuo Xiaoxia¹,Shi Xiaoliu²,Li Yisha¹³,Zhao Hongjun¹,Zhang Huali¹³⁴

Affiliation:

1. Department of Rheumatology Xiangya HospitalCentral South University Changsha China

2. Department of Medical Genetics The Second Xiangya HospitalCentral South University Changsha China

3. Department of Pathophysiology Xiangya School of MedicineCentral South University Changsha China

4. Sepsis Translational Medicine Key Laboratory of Hunan Central South University Changsha China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1568

Reference26 articles.

1. A Syndrome with Congenital Neutropenia and Mutations inG6PC3

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

3. The glucose‐6‐phosphate transporter is a phosphate‐linked antiporter deficient in glycogen storage disease type Ib and Ic

4. Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase–β

5. Molecular biology and gene therapy for glycogen storage disease type Ib

Cited by 1 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. Congenital neutropenia: disease models guiding new treatment strategies;Current Opinion in Hematology;2021-11-24

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