Associated Papers
Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders.
Zhang Z et al.
Bmc Pediatrics, 2025
Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations.
Osawa MT et al.
Pediatric Research, 2025
Patient mutations in DRP1 perturb synaptic maturation of cortical neurons.
Baum TB et al.
Biorxiv : the Preprint Server for Biology, 2024
Drp1 controls complex II assembly and skeletal muscle metabolism by Sdhaf2 action on mitochondria.
Zhou Z et al.
Science Advances, 2024
A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.
Zhang Z et al.
Bmc Pediatrics, 2024
Insights into the role of the conserved GTPase domain residues T62 and S277 in yeast Dnm1.
Banerjee R et al.
International Journal of Biological Macromolecules, 2023
DRP1 mutations associated with EMPF1 encephalopathy alter mitochondrial membrane potential and metabolic programs.
Robertson GL et al.
Journal of Cell Science, 2023
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.
Nolden KA et al.
Life Science Alliance, 2022
Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C).
Piccoli C et al.
Genes, 2021
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.
Assia Batzir N et al.
Cold Spring Harbor Molecular Case Studies, 2019
A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy.
Schmid SJ et al.
Neuropediatrics, 2019
Dynamin-related protein 1 has membrane constricting and severing abilities sufficient for mitochondrial and peroxisomal fission.
Kamerkar SC et al.
Nature Communications, 2018
Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.
Whitley BN et al.
Human Molecular Genetics, 2018
De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus.
Ryan CS et al.
Journal of Child Neurology, 2018
The expanding neurological phenotype of DNM1L-related disorders.
Wangler MF et al.
Brain : a Journal of Neurology, 2018
The Rice Dynamin-Related Protein OsDRP1E Negatively Regulates Programmed Cell Death by Controlling the Release of Cytochrome c from Mitochondria.
Li Z et al.
Plos Pathogens, 2017
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.
Fahrner JA et al.
American Journal of Medical Genetics. Part A, 2016
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.
Vanstone JR et al.
European Journal of Human Genetics : Ejhg, 2016
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
Sheffer R et al.
American Journal of Medical Genetics. Part A, 2016
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.
Chao YH et al.
Human Molecular Genetics, 2016
Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.
Iommarini L et al.
Mitochondrion, 2015
Structural insights into oligomerization and mitochondrial remodelling of dynamin 1-like protein.
Fröhlich C et al.
The Embo Journal, 2013
New insights into the function and regulation of mitochondrial fission.
Otera H et al.
Biochimica Et Biophysica Acta, 2013
Functional mapping of human dynamin-1-like GTPase domain based on x-ray structure analyses.
Wenger J et al.
Plos One, 2013
What genetics tells us about the causes and mechanisms of Parkinson's disease.
Corti O et al.
Physiological Reviews, 2011
Discovery of the membrane receptor for mitochondrial fission GTPase Drp1.
Otera H et al.
Small Gtpases, 2011
Mitochondrial dynamics in mammalian health and disease.
Liesa M et al.
Physiological Reviews, 2009
A lethal defect of mitochondrial and peroxisomal fission.
Waterham HR et al.
The New England Journal of Medicine, 2007