Associated Papers
Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations.
Osawa MT et al.
Pediatric Research, 2025
40269254 (PubMed )
Supplement: 41390_2025_4045_MOESM16_ESM.pdf
Clinical and genetic characterization of DNM1l-related disorders: insights into genotype-phenotype correlations.
Manting X et al.
Frontiers in Pediatrics, 2025
Patient mutations in DRP1 perturb synaptic maturation of cortical neurons.
Baum TB et al.
Biorxiv : the Preprint Server for Biology, 2024
DRP1 mutations associated with EMPF1 encephalopathy alter mitochondrial membrane potential and metabolic programs.
Robertson GL et al.
Journal of Cell Science, 2023
36763487 (PubMed )
Supplement: joces-136-260370_review_history.pdf
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.
Nolden KA et al.
Life Science Alliance, 2022
Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy.
Wei Y et al.
Frontiers in Pediatrics, 2021
DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review.
Liu X et al.
Frontiers in Pediatrics, 2021
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.
Longo F et al.
Human Molecular Genetics, 2020
A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy.
Schmid SJ et al.
Neuropediatrics, 2019
Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.
Whitley BN et al.
Human Molecular Genetics, 2018
The expanding neurological phenotype of DNM1L-related disorders.
Wangler MF et al.
Brain : a Journal of Neurology, 2018
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Gerber S et al.
Brain : a Journal of Neurology, 2017
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