Associated Papers
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.
Harms FL et al.
Neurogenetics, 2023
Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.
Afsar T et al.
Frontiers in Pediatrics, 2023
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
Mimicking human Drp1 disease-causing mutations in yeast Dnm1 reveals altered mitochondrial dynamics.
Banerjee R et al.
Mitochondrion, 2021
The structural biology of the dynamin-related proteins: New insights into a diverse, multitalented family.
Ford MGJ et al.
Traffic (copenhagen, Denmark), 2019
Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation.
Li H et al.
Frontiers in Pharmacology, 2019
Structures of the fungal dynamin-related protein Vps1 reveal a unique, open helical architecture.
Varlakhanova NV et al.
The Journal of Cell Biology, 2018
Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities.
Brereton E et al.
Molecular Genetics & Genomic Medicine, 2018
DNM1 encephalopathy: A new disease of vesicle fission.
von Spiczak S et al.
Neurology, 2017
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy.
Asinof SK et al.
Plos Genetics, 2015
Building a fission machine--structural insights into dynamin assembly and activation.
Chappie JS et al.
Journal of Cell Science, 2013
Replacement of Arg-386 with Gly in dynamin 1 middle domain reduced GTPase activity and oligomer stability in the absence of lipids.
Takahashi K et al.
Bioscience, Biotechnology, and Biochemistry, 2012
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