ReviewEuropean journal of pediatrics2015
Zellweger syndrome and secondary mitochondrial myopathy.
Review in European journal of pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 77 citations in OpenAlex.
- The organellar biology of aging: A mitochondrial vantage.Molecular biology reports · 2026Review
- Genetic variations associated with immediate hypersensitivity reactions to iodinated contrast media: A whole exome sequencing study.PloS one · 2026Article
- Article
- Alterations in peroxisome-mitochondria interplay in skeletal muscle accelerate muscle dysfunction.Nature communications · 2025Article
- Upregulated pexophagy limits the capacity of selective autophagy.Nature communications · 2024Article
- Article
- Intracellular to Interorgan Mitochondrial Communication in Striated Muscle in Health and Disease.Endocrine reviews · 2023Review
- Loss of pex5 sensitizes zebrafish to fasting due to deregulated mitochondria, mTOR, and autophagy.Cellular and molecular life sciences : CMLS · 2023Article
- New Information on Old Medicinal Products: A Cross-Sectional Analysis of Guidance for Paediatric Use for Substances on the European Priority List of Off-Patent Medicinal Products.Paediatric drugs · 2022Article
- Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.Orphanet journal of rare diseases · 2022Article
- Article
- Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.Neurogenetics · 2022Article
- Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.Brain sciences · 2021Article
- Update on the Classification and Pathophysiological Mechanisms of Pediatric Cardiorenal Syndromes.Children (Basel, Switzerland) · 2021Review
- VPS13D promotes peroxisome biogenesis.The Journal of cell biology · 2021Article
- Neuromuscular and Neuroendocrinological Features Associated WithFrontiers in neurology · 2021Article
- Peroxisome prognostications: Exploring the birth, life, and death of an organelle.The Journal of cell biology · 2020Review
- MitophAging: Mitophagy in Aging and Disease.Frontiers in cell and developmental biology · 2020Review
- Dyslipidemia in retinal metabolic disorders.EMBO molecular medicine · 2019Review
- Peroxisomal regulation of redox homeostasis and adipocyte metabolism.Redox biology · 2019Review
Corrections and comments
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Authors and funding
11 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Defects in peroxisomes such as those associated with Zellweger syndrome (ZS) can influence diverse intracellular metabolic pathways, including mitochondrial functioning. We report on an 8-month-old female infant and a 6-month-old female infant with typical clinical, radiological and laboratory features of Zellweger syndrome; light microscopic and ultrastructural evidence of mitochondrial pathology in their muscle biopsies; and homozygous pathogenic mutations of the PEX16 gene (c.460 + 5G > A) and the PEX 12 gene (c.888_889 del p.Leu297Thrfs*12), respectively. Additionally, mitochondrial respiratory chain enzymology analysis in the first girl showed a mildly low activity in complexes II-III and IV. We also review five children previously reported in the literature with a presumptive diagnosis of ZS and additional mitochondrial findings in their muscle biopsies. In conclusion, this is the first study of patients with a molecularly confirmed peroxisomal disorder with features of a concomitant mitochondrial myopathy and underscores the role of secondary mitochondrial dysfunction in Zellweger syndrome, potentially contributing to the clinical phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.