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
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.
Magistrati M et al.
International Journal of Molecular Sciences, 2025
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
Human Fis1 directly interacts with Drp1 in an evolutionarily conserved manner to promote mitochondrial fission.
Nolden KA et al.
The Journal of Biological Chemistry, 2023
Generation of a human induced pluripotent stem cell line from a pediatric heart failure patient with de novo DNM1L mutation.
Sinha A et al.
Stem Cell Research, 2023
Human Fis1 directly interacts with Drp1 in an evolutionarily conserved manner to promote mitochondrial fission.
Nolden KA et al.
Biorxiv : the Preprint Server for Biology, 2023
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
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