Cargando…

DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review

Background: Mitochondrial dynamics, including mitochondrial fission and fusion, transport and distribution, biogenesis and degradation, are critical to neuronal function. The dynamin-1 like (DNM1L) gene encodes dynamin-related protein 1 (DRP1/DLP1), which is an evolutionarily conserved member of the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Xingmiao, Zhang, Zhongbin, Li, Dong, Lei, Meifang, Li, Qing, Liu, Xiaojun, Zhang, Peiyuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8295552/ https://www.ncbi.nlm.nih.gov/pubmed/34307245 http://dx.doi.org/10.3389/fped.2021.626657

Ejemplares similares

Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy
por: Afsar, Tayyaba, et al.
Publicado: (2023)

DNM1 encephalopathy: A new disease of vesicle fission
por: von Spiczak, Sarah, et al.
Publicado: (2017)

Analysis of the genotype–phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review
por: Liu, Xingmiao, et al.
Publicado: (2022)

BCL2L13 promotes mitophagy through DNM1L-mediated mitochondrial fission in glioblastoma
por: Wang, Jiwei, et al.
Publicado: (2023)

A Mutation in the Mitochondrial Fission Gene Dnm1l Leads to Cardiomyopathy
por: Ashrafian, Houman, et al.
Publicado: (2010)

Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells
por: Douiev, Liza, et al.
Publicado: (2020)

Conformational changes in Dnm1 support a contractile mechanism for mitochondrial fission
por: Mears, Jason A., et al.
Publicado: (2010)

Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant
por: Lhuissier, Charlène, et al.
Publicado: (2022)

Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy
por: Wei, Yanping, et al.
Publicado: (2021)

Knockdown of Mtfp1 can minimize doxorubicin cardiotoxicity by inhibiting Dnm1l‐mediated mitochondrial fission
por: Aung, Lynn H. H., et al.
Publicado: (2017)

Inhibition of DNM1L and mitochondrial fission attenuates inflammatory response in fibroblast‐like synoviocytes of rheumatoid arthritis
por: Wang, Xiaoyan, et al.
Publicado: (2019)

Molecular Motor Dnm1 Synergistically Induces Membrane Curvature To Facilitate Mitochondrial Fission
por: Lee, Michelle W., et al.
Publicado: (2017)

Two pediatric patients with hemiplegic migraine presenting as acute encephalopathy: case reports and a literature review
por: Xiang, Yu, et al.
Publicado: (2023)

Alternate splice variants of the mitochondrial fission protein DNM1L/Drp1 regulate mitochondrial dynamics and cell fate in ovarian cancer
por: Javed, Zaineb, et al.
Publicado: (2023)

Mitochondrial fission factor (MFF) frameshift variant in Bullmastiffs with mitochondrial fission encephalopathy
por: Christen, Matthias, et al.
Publicado: (2022)

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy
por: Nasca, Alessia, et al.
Publicado: (2016)

Hypoxia-induced mitochondrial translocation of DNM1L increases mitochondrial fission and triggers mPTP opening in HCC cells via activation of HK2
por: Cai, Min, et al.
Publicado: (2021)

The WD40 protein Caf4p is a component of the mitochondrial fission machinery and recruits Dnm1p to mitochondria
por: Griffin, Erik E., et al.
Publicado: (2005)

DnmA and FisA Mediate Mitochondria and Peroxisome Fission, and Regulate Mitochondrial Function, ROS Production and Development in Aspergillus nidulans
por: Garrido-Bazán, Verónica, et al.
Publicado: (2020)

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis
por: Dhindsa, Ryan S., et al.
Publicado: (2015)

Kikuchi-Fujimoto Disease With Encephalopathy in Children: Case Reports and Literature Review
por: Pan, Yu-Ting, et al.
Publicado: (2021)

MoDnm1 Dynamin Mediating Peroxisomal and Mitochondrial Fission in Complex with MoFis1 and MoMdv1 Is Important for Development of Functional Appressorium in Magnaporthe oryzae
por: Zhong, Kaili, et al.
Publicado: (2016)

Enhanced pentylenetetrazole sensitivity in a C. elegans mutant associated with DNM1 encephalopathy
por: Vaji, Madeline A., et al.
Publicado: (2020)

Encephalopathy in Preterm Infants: Advances in Neuroprotection With Caffeine
por: Yang, Liu, et al.
Publicado: (2021)

Mitochondrial Fission-Mediated Lung Development in Newborn Rats With Hyperoxia-Induced Bronchopulmonary Dysplasia With Pulmonary Hypertension
por: Dai, Yuanyuan, et al.
Publicado: (2021)

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures
por: Assia Batzir, Nurit, et al.
Publicado: (2019)

Case Report: Recurrent Hemiplegic Migraine Attacks Accompanied by Intractable Hypomagnesemia Due to a de novo TRPM7 Gene Variant
por: Lei, Meifang, et al.
Publicado: (2022)

Reversal of cell, circuit and seizure phenotypes in a mouse model of DNM1 epileptic encephalopathy
por: Bonnycastle, Katherine, et al.
Publicado: (2023)

Dnm1p Gtpase-Mediated Mitochondrial Fission Is a Multi-Step Process Requiring the Novel Integral Membrane Component Fis1p
por: Mozdy, A.D., et al.
Publicado: (2000)

Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms
por: Nolden, Kelsey A, et al.
Publicado: (2022)

Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy
por: Dong, Meng, et al.
Publicado: (2022)

Preterm Hypoxic–Ischemic Encephalopathy
por: Gopagondanahalli, Krishna Revanna, et al.
Publicado: (2016)

Altered Fast Synaptic Transmission in a Mouse Model of DNM1-Associated Developmental Epileptic Encephalopathy
por: McCabe, Matthew P., et al.
Publicado: (2021)

Dnm1’s recruitment strategy
por: Short, Ben
Publicado: (2012)

The WD repeat protein, Mdv1p, functions as a molecular adaptor by interacting with Dnm1p and Fis1p during mitochondrial fission
por: Tieu, Quinton, et al.
Publicado: (2002)

Phenotypes in children with GNAO1 encephalopathy in China
por: Li, Yanmei, et al.
Publicado: (2023)

Clinical evaluation of acute necrotizing encephalopathy in children
por: Fan, Xiaowei, et al.
Publicado: (2022)

De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
por: Ladds, Emma, et al.
Publicado: (2018)

Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant
por: Shu, Jianbo, et al.
Publicado: (2022)

The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish
por: Gibbs, Elizabeth M., et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_ip12ilp4o8g30fd2e4lea90da6