A novel compound heterozygous PEX1 variant in Heimler syndrome-Reference-Cited by-同舟云学术

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A novel compound heterozygous PEX1 variant in Heimler syndrome

Published:2023-12 Issue: Volume:237 Page:109688
ISSN:0014-4835
Container-title:Experimental Eye Research
language:en
Short-container-title:Experimental Eye Research

Author:

Yu Mingyu,Zhang Min,Chen Qingshan,Huang Tao,Gan Run,Yan Xiaohe

Funder

Sanming Project of Medicine in Shenzen Municipality

National Natural Science Foundation of China

Science, Technology and Innovation Commission of Shenzhen Municipality

Publisher

Elsevier BV

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference25 articles.

1. A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder;Argyriou;Exp. Eye Res.,2019

2. Unique double-ring structure of the peroxisomal Pex1/Pex6 ATPase complex revealed by cryo-electron microscopy;Blok;Proc. Natl. Acad. Sci. U.S.A.,2015

3. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines;Braverman;Mol. Genet. Metabol.,2016

4. Next-Generation sequencing to diagnose suspected genetic disorders;Choy;N. Engl. J. Med.,2019

5. Molecular snapshots of the Pex1/6 AAA+ complex in action;Ciniawsky;Nat. Commun.,2015

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. A novel compound heterozygous variant of MYO7A in Usher syndrome type 1;Experimental Eye Research;2024-10

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