Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report-Reference-Cited by-同舟云学术

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Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report

Published:2021-09-16 Issue:26 Volume:9 Page:7876-7885
ISSN:2307-8960
Container-title:World Journal of Clinical Cases
language:
Short-container-title:WJCC

Author:

Yang Xia,Lv Zi-Li,Tang Qing,Chen Xiu-Qi,Huang Li,Yang Mei-Xiong,Lan Lian-Cheng,Shan Qing-Wen

Publisher

Baishideng Publishing Group Inc.

Subject

General Medicine

Reference21 articles.

1. Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

2. The V-type H+ ATPase: molecular structure and function,physiological roles and regulation

3. Structure and Roles of V-type ATPases

4. ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

5. Regulation and Isoform Function of the V-ATPases

Cited by 4 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. Insights into molecular and cellular functions of the Golgi calcium/manganese-proton antiporter TMEM165;Journal of Biological Chemistry;2024-08

2. Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing;Molecular Genetics and Metabolism;2024-07

3. Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association;Journal of Inherited Metabolic Disease;2023-01-29

4. Expanding the phenotype of ATP6AP1 deficiency;Molecular Case Studies;2022-06

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