ArticleKidney medicine2026
Functional Analysis of a Novel Pathogenic Glycine Amidinotransferase Mutant in Hereditary Fanconi Syndrome.
Article in Kidney medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Genetic Screening of Patients With Inherited Fanconi Syndrome.Kidney international reports · 2026Article
- Renal proteomic landscape of a patient with Fanconi renotubular syndrome carrying a novel GATM variant.Frontiers in physiology · 2026Article
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16 authors.
Funding
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Abstract
The mutant glycine amidinotransferase (GATM) protein polymerizes into a characteristic crystal, resulting in mitochondrial dysfunction in proximal tubules and Fanconi syndrome with progressive kidney failure. We identified a novel hereditary Fanconi syndrome characterized by mutant GATM proteins in a Japanese family, the first in Asia. Kidney biopsies exhibited typical histological features, confirmed by immunofluorescent staining with anti-GATM and anti-ATP synthase β subunit (ATPB) antibodies and electron microscopy. Quantitative immunofluorescence analysis showed a significant correlation between ATPB and GATM-ATPB colocalization, suggesting mitochondrial pathogenicity of the mutant. Previously reported GATM mutations, clustered in the fourth of 5 β-sheets of the GATM protein, are assumed to have increased adhesive properties, changing the β-sheet from its original dimeric form to a unique polymerization. Targeted panel sequencing showed a novel mutation (Q268E) in the
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