Associated Papers
A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance.
Staedler K et al.
Journal of Neuromuscular Diseases, 2025
Novel mutation in XPNPEP3 in a patient with heart failure without nephronophthisis-like nephropathy (NPHPL1): case report and literature review.
Zhen Z et al.
Bmc Pediatrics, 2024
Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1.
Tong L et al.
Iscience, 2023
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient
Alizadeh R et al.
Iranian Biomedical Journal, 2020
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