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

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 mutations in...

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Detalles Bibliográficos
Autores principales: Tong, Lingxiao, Rao, Jia, Yang, Chenxi, Xu, Jie, Lu, Yijun, Zhang, Yuchen, Cang, Xiaohui, Xie, Shanshan, Mao, Jianhua, Jiang, Pingping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10432713/
https://www.ncbi.nlm.nih.gov/pubmed/37599822
http://dx.doi.org/10.1016/j.isci.2023.107446

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