ArticleHuman mutation2016
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.
Article in Human mutation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.
- Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review.Journal of inherited metabolic disease · 2026Pooled it
- Reversibility and therapeutic feasibility of DNM1L-associated neurodevelopmental disorders.Experimental & molecular medicine · 2026Article
- Clinical phenotype spectrum and prognostic analysis ofFrontiers in neurology · 2026Article
- Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations.Pediatric research · 2025Article
- A De NovoBiomolecules · 2025Article
- Mitochondrial and peroxisomal fission in cortical neurogenesis.The international journal of biochemistry & cell biology · 2025Review
- The Curse of the Red Pearl: A Fibroblast-Specific Pearl-Necklace Mitochondrial Phenotype Caused by Phototoxicity.Biomolecules · 2025Article
- De NovoInternational journal of molecular sciences · 2025Review
- Clinical and genetic characterization ofFrontiers in pediatrics · 2025Article
- Loss of dynamin 1-like protein impairs mitochondrial function and self-renewal, and activates the integrated stress response in human embryonic stem cells.Frontiers in genetics · 2025Article
- De NovoInternational journal of molecular sciences · 2024Article
- A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.BMC pediatrics · 2024Review
- Expanding the spectrum of neonatal-onset AIFM1-associated disorders.Annals of clinical and translational neurology · 2023Article
- Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease.International journal of molecular sciences · 2023Review
- DRP1 mutations associated with EMPF1 encephalopathy alter mitochondrial membrane potential and metabolic programs.Journal of cell science · 2023Article
- NovelLife science alliance · 2022Article
- Mitochondrial Calcium-Triggered Oxidative Stress and Developmental Defects in Dopaminergic Neurons Differentiated from Deciduous Teeth-Derived Dental Pulp Stem Cells with MFF Insufficiency.Antioxidants (Basel, Switzerland) · 2022Article
- Review
- Predicting Mitochondrial Dynamic Behavior in Genetically Defined Neurodegenerative Diseases.Cells · 2022Review
- Mitochondrial dynamics and its impact on human health and diseases: inside the DRP1 blackbox.Journal of molecular medicine (Berlin, Germany) · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Mitochondria are highly dynamic organelles, undergoing continuous fission and fusion, and mitochondrial dynamics is important for several cellular functions. DNM1L is the most important mediator of mitochondrial fission, with a role also in peroxisome division. Few reports of patients with genetic defects in DNM1L have been published, most of them describing de novo dominant mutations. We identified compound heterozygous DNM1L variants in two brothers presenting with an infantile slowly progressive neurological impairment. One variant was a frame-shift mutation, the other was a missense change, the pathogenicity of which was validated in a yeast model. Fluorescence microscopy revealed abnormally elongated mitochondria and aberrant peroxisomes in mutant fibroblasts, indicating impaired fission of these organelles. In conclusion, we described a recessive disease caused by DNM1L mutations, with a clinical phenotype resembling mitochondrial disorders but without any biochemical features typical of these syndromes (lactic acidosis, respiratory chain complex deficiency) or indicating a peroxisomal disorder.
Indexed as
Identifiers
What OpenQuestion holds
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.