| A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism. | A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Parthasarathy S, Ruggiero SM, Gelot A, Soardi FC, Ribeiro BFR, Pires DEV, Ascher DB, Schmitt A, Rambaud C, Represa A, Xie HM, Lusk L, Wilmarth O, McDonnell PP, Juarez OA, Grace AN, Buratti J, Mignot C, Gras D, Nava C, Pierce SR, Keren B, Kennedy BC, Pena SDJ, Helbig I, Cuddapah VA., Free PMC Article | 03/8/2023 |
| Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state. | Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Yigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H, Altmüller J, Nürnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik B, Brockmann K., Free PMC Article | 07/30/2022 |
| Dynamin regulates L cell secretion in human gut. | Dynamin regulates L cell secretion in human gut.
Sun EW, Matusica D, Wattchow DA, McCluskey A, Robinson PJ, Keating DJ. | 01/29/2022 |
| CryoEM structure of the super-constricted two-start dynamin 1 filament. | CryoEM structure of the super-constricted two-start dynamin 1 filament.
Liu J, Alvarez FJD, Clare DK, Noel JK, Zhang P., Free PMC Article | 10/23/2021 |
| 3.75 A resolution cryo-electron microscopy structure of the membrane-associated helical polymer of human dynamin-1 in the GMPPCP-bound state | Cryo-EM of the dynamin polymer assembled on lipid membrane.
Kong L, Sochacki KA, Wang H, Fang S, Canagarajah B, Kehr AD, Rice WJ, Strub MP, Taraska JW, Hinshaw JE., Free PMC Article | 04/27/2019 |
| Cellular fluorescein hyperfluorescence is dynamin-dependent. | Cellular fluorescein hyperfluorescence is dynamin-dependent and increased by Tetronic 1107 treatment.
Khan TF, Price BL, Morgan PB, Maldonado-Codina C, Dobson CB. | 03/30/2019 |
| The twin siblings exhibit mild to moderate intellectual disability and autistic symptoms but no epileptic encephalopathy. Exome sequencing revealed a genetic variant, c.1603A>G (p.Lys535Glu), in the PH domain of dynamin 1. The twin sisters studied here share the de novo variant, c.1603A>G (p.Lys535Glu) in exon 15 of DNM1, classified as likely pathogenic. | Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities.
Brereton E, Fassi E, Araujo GC, Dodd J, Telegrafi A, Pathak SJ, Shinawi M., Free PMC Article | 09/29/2018 |
| The data show that the dynamin-amphiphysin helices are rearranged to form clusters upon GTP hydrolysis and membrane constriction occurs at protein-uncoated regions flanking the clusters. | Dynamic clustering of dynamin-amphiphysin helices regulates membrane constriction and fission coupled with GTP hydrolysis.
Takeda T, Kozai T, Yang H, Ishikuro D, Seyama K, Kumagai Y, Abe T, Yamada H, Uchihashi T, Ando T, Takei K., Free PMC Article | 09/1/2018 |
| Together, these observations suggest that while endophilin helps shape endocytic tubules and recruit dynamin to endocytic sites, it can also block membrane fission when present in excess by inhibiting inter-dynamin interactions. | Structural inhibition of dynamin-mediated membrane fission by endophilin.
Hohendahl A, Talledge N, Galli V, Shen PS, Humbert F, De Camilli P, Frost A, Roux A., Free PMC Article | 06/23/2018 |
| The authors show that in fibroblasts, dynamin GTP hydrolysis occurs as stochastic bursts, which are randomly distributed relatively to the peak of dynamin assembly. Thus, dynamin disassembly is not coupled to GTPase activity, supporting that the GTP energy is primarily spent in constriction. | Uncoupling of dynamin polymerization and GTPase activity revealed by the conformation-specific nanobody dynab.
Galli V, Sebastian R, Moutel S, Ecard J, Perez F, Roux A., Free PMC Article | 06/23/2018 |
| Dynamin isoforms differentially regulate the endocytosis and apoptotic signaling downstream of TRAIL-death receptor (TRAIL-DR) complexes in cancer cells. TRAIL stimulation activates ryanodine receptor-mediated calcium release from endoplasmic reticulum stores, leading to calcineurin-mediated dephosphorylation and activation of Dyn1, TRAIL-DR endocytosis, and increased resistance to TRAIL-induced apoptosis. | TRAIL-death receptor endocytosis and apoptosis are selectively regulated by dynamin-1 activation.
Reis CR, Chen PH, Bendris N, Schmid SL., Free PMC Article | 04/21/2018 |
| Three genes in our epilepsy cohort (COQ4, DNM1, and PURA), accounting for 14% (3/21) of all novel genetic etiologies identified in patients with epilepsy, were subsequently confirmed in independent publications. | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
Helbig KL, Farwell Hagman KD, Shinde DN, Mroske C, Powis Z, Li S, Tang S, Helbig I. | 12/16/2017 |
| Study delineates the phenotypic spectrum of DNM1 encephalopathy, an emerging disease of synaptic vesicle fission characterized by severe to profound developmental delay, infantile-onset epilepsy beginning with infantile spasms, and movement disorder. The genetic landscape of DNM1 encephalopathy is notable for the recurrent c.709C>T (p.Arg237Trp) variant and localization of mutations to specific domains of the protein. | DNM1 encephalopathy: A new disease of vesicle fission.
von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group., Free PMC Article | 07/29/2017 |
| CLCb/Dyn1-dependent adaptive clathrin-mediated endocytosis selectively altered EGF receptor trafficking. | Crosstalk between CLCb/Dyn1-Mediated Adaptive Clathrin-Mediated Endocytosis and Epidermal Growth Factor Receptor Signaling Increases Metastasis.
Chen PH, Bendris N, Hsiao YJ, Reis CR, Mettlen M, Chen HY, Yu SL, Schmid SL., Free PMC Article | 06/24/2017 |
| interation of DG with laminin and dynamin is involved in the regulation of AQP4 internalization | Aquaporin-4 Cell-Surface Expression and Turnover Are Regulated by Dystroglycan, Dynamin, and the Extracellular Matrix in Astrocytes.
Tham DK, Joshi B, Moukhles H., Free PMC Article | 06/24/2017 |
| Down-regulation of Dyn1 activity enhances extracellular Nme1 in human colon tumor cell lines. | Dynamin controls extracellular level of Awd/Nme1 metastasis suppressor protein.
Romani P, Papi A, Ignesti M, Soccolini G, Hsu T, Gargiulo G, Spisni E, Cavaliere V. | 02/25/2017 |
| Hypoxic down-regulation of constitutive endocytosis is HIF-independent, and involves caveolin-1-mediated inhibition of dynamin-dependent, membrane raft endocytosis. | Hypoxia regulates global membrane protein endocytosis through caveolin-1 in cancer cells.
Bourseau-Guilmain E, Menard JA, Lindqvist E, Indira Chandran V, Christianson HC, Cerezo Magaña M, Lidfeldt J, Marko-Varga G, Welinder C, Belting M., Free PMC Article | 09/10/2016 |
| study reports 2 patients with early onset epileptic encephalopathy possessing de novo DNM1 mutations; detected the novel mutation c.127G>A (p.Gly43Ser) in a patient with Lennox-Gastaut syndrome, and a recurrent mutation c.709C>T (p.Arg237Trp) in a patient with West syndrome | De novo DNM1 mutations in two cases of epileptic encephalopathy.
Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N. | 09/3/2016 |
| The rare variants in DNM1 were significantly associated with smoking status. | The contribution of rare and common variants in 30 genes to risk nicotine dependence.
Yang J, Wang S, Yang Z, Hodgkinson CA, Iarikova P, Ma JZ, Payne TJ, Goldman D, Li MD., Free PMC Article | 08/6/2016 |
| Data indicate that stimulation of the dynamin GTPase activity by SH3 domains is determined by its middle domain. | SH3 Domains Differentially Stimulate Distinct Dynamin I Assembly Modes and G Domain Activity.
Krishnan S, Collett M, Robinson PJ., Free PMC Article | 07/2/2016 |
| molecular simulations corroborate the bimodal character of dynamin action and indicate radial and axial forces as dominant, although not independent, drivers of hemi-fission and fission membrane- transformations, respectively | A hemi-fission intermediate links two mechanistically distinct stages of membrane fission.
Mattila JP, Shnyrova AV, Sundborger AC, Hortelano ER, Fuhrmans M, Neumann S, Müller M, Hinshaw JE, Schmid SL, Frolov VA., Free PMC Article | 05/7/2016 |
| Data indicate the dynamics of a dynamin 1-catalysed GTP hydrolysis and tube-severing reaction in real time using fluorescence microscopy. | A high-throughput platform for real-time analysis of membrane fission reactions reveals dynamin function.
Dar S, Kamerkar SC, Pucadyil TJ. | 04/2/2016 |
| This study identified and confirmed DNM1 protein changes within the postsynaptic density in schizophrenia. | Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia.
Föcking M, Lopez LM, English JA, Dicker P, Wolff A, Brindley E, Wynne K, Cagney G, Cotter DR. | 12/12/2015 |
| findings support a role for HTT on dynamin 1 function and ER homoeostasis. Proteolysis-induced alteration of this function may be relevant to disease. | Huntingtin proteolysis releases non-polyQ fragments that cause toxicity through dynamin 1 dysregulation.
El-Daher MT, Hangen E, Bruyère J, Poizat G, Al-Ramahi I, Pardo R, Bourg N, Souquere S, Mayet C, Pierron G, Lévêque-Fort S, Botas J, Humbert S, Saudou F., Free PMC Article | 11/28/2015 |
| CRISPR-Cas9n-mediated knockout and reconstitution studies establish that dynamin-1 is activated by Akt/GSK3beta signaling in H1299 non-small lung cancer cells. | Crosstalk between Akt/GSK3β signaling and dynamin-1 regulates clathrin-mediated endocytosis.
Reis CR, Chen PH, Srinivasan S, Aguet F, Mettlen M, Schmid SL., Free PMC Article | 10/31/2015 |