Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1

Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1

Summary: Nephronophthisis-like nephropathy-1 (NPHPL1) is a rare ciliopathy, caused by mutations of XPNPEP3. Despite a well-described monogenic etiology, the pathogenesis of XPNPEP3 associated with mitochondrial and ciliary function remains elusive. Here, we identified novel compound heterozygous mut...

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Bibliographic Details
Main Authors: Lingxiao Tong, Jia Rao, Chenxi Yang, Jie Xu, Yijun Lu, Yuchen Zhang, Xiaohui Cang, Shanshan Xie, Jianhua Mao, Pingping Jiang
Format: Article
Language:English
Published: Elsevier 2023-08-01
Series:iScience
Subjects:
disease
human Genetics
cell biology
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004223015237

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http://www.sciencedirect.com/science/article/pii/S2589004223015237

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