A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease-Reference-Cited by-同舟云学术

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A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease

Published:2018-10-03 Issue:3 Volume:120 Page:3491-3505
ISSN:0730-2312
Container-title:Journal of Cellular Biochemistry
language:en
Short-container-title:J Cell Biochem

Author:

Thirumal Kumar D¹,Umer Niazullah Maryam²,Tasneem Sadia²,Judith E¹,Susmita B¹,George Priya Doss C¹^ORCID,Selvarajan E³,Zayed Hatem²^ORCID

Affiliation:

1. Department of Integrative Biology School of Bio Sciences and Technology, Vellore Institute of Technology Vellore Tamil Nadu India

2. Department of Biomedical Sciences College of Health and Sciences, Qatar University Doha Qatar

3. Department of Genetic engineering School of Bioengineering, SRM Institute of Science and Technology Kattankulathur Chennai India

Publisher

Wiley

Subject

Cell Biology,Molecular Biology,Biochemistry

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcb.27624

Reference67 articles.

1. Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation.

2. Lysosomal Acid α-Glucosidase Consists of Four Different Peptides Processed from a Single Chain Precursor

3. Pompe Disease: Early Diagnosis and Early Treatment Make a Difference

4. Pompe Disease

5. Incidence of infantile Pompe disease in the Maroon population of French Guiana

Cited by 14 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. Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study;International Journal of Molecular Sciences;2024-08-23

2. Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease);Animals;2023-04-13

3. Induced pluripotent stem cell for modeling Pompe disease;Frontiers in Cardiovascular Medicine;2022-12-22

4. In silico prediction of the functional consequences of nsSNPs in human beta-catenin gene;Gene Reports;2021-06

5. Investigating mutations at the hotspot position of the ERBB2 and screening for the novel lead compound to treat breast cancer – a computational approach;Advances in Protein Chemistry and Structural Biology;2021

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