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

23 Jul 2023

Abstract excerpt

. 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 NPHPL1 patients with renal lesion only or with extra bone cysts together. Patient-derived lymphoblasts carrying c.634G>A and c.761G>T together exhibit elevated mitochondrial XPNPEP3 levels via the reduction of...

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PMID: 37599822
DOI: 10.1016/j.isci.2023.107446

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