The role of novel COQ8B mutations in glomerulopathy and related kidney defects-Reference-Cited by-同舟云学术

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The role of novel COQ8B mutations in glomerulopathy and related kidney defects

Published:2020-10-20 Issue:1 Volume:185 Page:60-67
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

AbuMaziad Asmaa S.¹^ORCID,Thaker Tarjani M.²,Tomasiak Thomas M.²,Chong Chyi Chyi³,Galindo Maureen K.⁴,Hoyme H. Eugene⁴

Affiliation:

1. Department of Pediatrics, Division of Nephrology University of Arizona Tucson Arizona USA

2. Department of Chemistry and Biochemistry University of Arizona Tucson Arizona USA

3. Department of Medicine, Division of Nephrology University of Arizona Tucson Arizona USA

4. Center for Applied Genetics and Genomic Medicine and Department of Pediatrics University of Arizona College of Medicine Tucson Arizona USA

Funder

National Institute of General Medical Sciences

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61909

Reference24 articles.

1. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

2. Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment

3. Prediction of post-translational glycosylation and phosphorylation of proteins from the amino acid sequence

4. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency

5. JPred4: a protein secondary structure prediction server

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. Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa;The American Journal of Human Genetics;2024-09

2. Glomerular basement membrane ultrastructural changes in a patient with COQ2 glomerulopathy: A case report;Nephrology;2024-06-04

3. The efficacy of coenzyme Q ₁₀ treatment in alleviating the symptoms of primary coenzyme Q ₁₀ deficiency: A systematic review;Journal of Cellular and Molecular Medicine;2022-08-19

4. COQ8B glomerular nephropathy: Outcomes after kidney transplantation and analysis of characteristics in Chinese population;Frontiers in Pediatrics;2022-08-10

5. The efficacy of coenzyme Q₁₀ treatment in alleviating the symptoms of primary coenzyme Q₁₀ deficiency: a systematic review;2022-05-22

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