Article

Bi-allelic variants in the aminopeptidase XPNPEP3 cause mitochondrial disease with pediatric cardiomyopathy

2025-01-21

Abstract excerpt

Bi-allelic variants in XPNPEP3 are known to cause nephronophthisis-like nephropathy-1. However, recent findings indicate XPNPEP3 deficiency causes a broader phenotypic spectrum encompassing extra-renal manifestations. XPNPEP3 is suggested to be the human ortholog of ICP55, a mitochondrial protein involved in the processing and maturation of mitochondrial proteins in plants and yeast. Here, we present a family with...

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Literature Corpus work: f193286e-8c30-560b-a24b-7d998785253f
DOI: 10.1101/2025.01.11.25320052

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