ArticleHuman molecular genetics2018
Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.
Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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
35 citing papers in PubMed.
- The Proteome of Bone Marrow Multipotent Mesenchymal Stromal Cells Undergoes Significant Alterations in Acute Leukemia Patients at the Onset and During Treatment.International journal of molecular sciences · 2026Article
- DRP1 mutations associated with EMPF1 encephalopathy perturb the transcriptional profile and maturation of cortical neurons.Journal of neurodevelopmental disorders · 2026Article
- Disease-causing MFN2 mutants impair mitochondrial fission dynamics by distinct DRP1 dysregulation.Cell death & disease · 2026Article
- Mitochondrial dynamics in neurodevelopment and neurodevelopmental disorders.Nature reviews. Neuroscience · 2026Review
- Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders.BMC pediatrics · 2025Article
- 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
- Mitochondrial fission - changing perspectives for future progress.Journal of cell science · 2025Review
- 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
- Peroxisome dynamics and inter-organelle interactions in neuronal health and disease.Frontiers in molecular neuroscience · 2025Review
- Serine 39 in the GTP-binding domain of Drp1 is involved in shaping mitochondrial morphology.FEBS open bio · 2024Article
- Systemic phospho-defective and phospho-mimetic Drp1 mice exhibit normal growth and development with altered anxiety-like behavior.iScience · 2024Article
- Drp1 controls complex II assembly and skeletal muscle metabolism by Sdhaf2 action on mitochondria.Science advances · 2024Article
- Force-induced tail-autotomy mitochondrial fission and biogenesis of matrix-excluded mitochondrial-derived vesicles for quality control.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.BMC pediatrics · 2024Review
- Disease-associated mutations in Drp1 have fundamentally different effects on the mitochondrial fission machinery.Human molecular genetics · 2023Article
- DRP1 mutations associated with EMPF1 encephalopathy alter mitochondrial membrane potential and metabolic programs.Journal of cell science · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Funding
Abstract
Mitochondrial dynamics, including mitochondrial division, fusion and transport, are integral parts of mitochondrial and cellular function. DNM1L encodes dynamin-related protein 1 (Drp1), a member of the dynamin-related protein family that is required for mitochondrial division. Several de novo mutations in DNM1L are associated with a range of disease states. Here we report the identification of five patients with pathogenic or likely pathogenic variants of DNM1L, including two novel variants. Interestingly, all of the positions identified in these Drp1 variants are fully conserved among all members of the dynamin-related protein family that are involved in membrane division and organelle division events. This work builds upon and expands the clinical spectrum associated with Drp1 variants in patients and their impact on mitochondrial division in model cells.
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.