ReviewFrontiers in physiology2021
Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM.
Review in Frontiers in physiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- The Pathophysiological Mechanism of Beni-koji Choleste-Help or Puberulic Acid-Induced Kidney Injury.Kidney international reports · 2026Article
- Unveiling long-standing low-molecular-weight proteinuria: A proximal tubular mitochondrial enzyme impairment caused by EHHADH mutation.Pediatric nephrology (Berlin, Germany) · 2026Article
- Comprehensive Analysis to Reveal Nitrogen Metabolism-Associated Genes as a Prognostic Index in Head and Neck Squamous Cell Cancer.Current medicinal chemistry · 2026Article
- Gatm ablation disrupts spermatogenesis by impairing ribosome biogenesis and coupling defective steroid biosynthesis to immunoglobulin silencing.Frontiers in cell and developmental biology · 2026Article
- Rac1 promotes proximal tubule kidney repair by coupling the actin cytoskeleton to mitochondrial function.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- From acute kidney injury to chronic kidney disease in children: maladaptive repair and the need for long-term surveillance - a literature review.BMC nephrology · 2025Review
- Guanidinylation of the cold shock protein YB-1: Molecular basis, structural changes and Notch-3 receptor binding.Protein science : a publication of the Protein Society · 2025Article
- Article
- From Rare Disorders of Kidney Tubules to Acute Renal Injury: Progress and Prospective.Kidney diseases (Basel, Switzerland) · 2024Review
- Article
- An uncommon cause of hypophosphatemic rickets: Answers.Pediatric nephrology (Berlin, Germany) · 2023Article
- Quantitative, Targeted Analysis of Gut Microbiota Derived Metabolites Provides Novel Biomarkers of Early Diabetic Kidney Disease in Type 2 Diabetes Mellitus Patients.Biomolecules · 2023Article
- A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease.Clinical genetics · 2023Article
- BACH1-Hemoxygenase-1 axis regulates cellular energetics and survival following sepsis.Free radical biology & medicine · 2022Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The mitochondria of the proximal tubule are essential for providing energy in this nephron segment, whose ATP generation is almost exclusively oxygen dependent. In addition, mitochondria are involved in a variety of metabolic processes and complex signaling networks. Proximal tubular mitochondrial dysfunction can therefore affect renal function in very different ways. Two autosomal dominantly inherited forms of renal Fanconi syndrome illustrate how multifaceted mitochondrial pathology can be: Mutation of EHHADH, an enzyme in fatty acid metabolism, results in decreased ATP synthesis and a consecutive transport defect. In contrast, mutations of GATM, an enzyme in the creatine biosynthetic pathway, leave ATP synthesis unaffected but do lead to mitochondrial protein aggregates, inflammasome activation, and renal fibrosis with progressive renal failure. In this review article, the distinct pathophysiological mechanisms of these two diseases are presented, which are examples of the spectrum of proximal tubular mitochondrial diseases.
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