A novel de novo dominant negative mutation inDNM1Limpairs mitochondrial fission and presents as childhood epileptic encephalopathy
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Title
A novel de novo dominant negative mutation inDNM1Limpairs mitochondrial fission and presents as childhood epileptic encephalopathy
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 8, Pages 2002-2011
Publisher
Wiley
Online
2016-05-05
DOI
10.1002/ajmg.a.37721
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Related references
Note: Only part of the references are listed.- Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L
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- Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission
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- (2015) Raymond Liu et al. MOLECULAR BIOLOGY OF THE CELL
- Crystal structure of the dynamin tetramer
- (2015) Thomas F. Reubold et al. NATURE
- Mutations causing mitochondrial disease: What is new and what challenges remain?
- (2015) R. N. Lightowlers et al. SCIENCE
- De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
- (2014) Silke Appenzeller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mitochondrial DNA: Impacting Central and Peripheral Nervous Systems
- (2014) Valerio Carelli et al. NEURON
- Structural insights into oligomerization and mitochondrial remodelling of dynamin 1-like protein
- (2013) Chris Fröhlich et al. EMBO JOURNAL
- Fis1, Mff, MiD49, and MiD51 mediate Drp1 recruitment in mitochondrial fission
- (2013) Oliver C. Losón et al. MOLECULAR BIOLOGY OF THE CELL
- Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome
- (2012) Olga S Koutsopoulos et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Dynamin: Functional Design of a Membrane Fission Catalyst
- (2011) Sandra L. Schmid et al. Annual Review of Cell and Developmental Biology
- Fusion and Fission: Interlinked Processes Critical for Mitochondrial Health
- (2011) David C. Chan Annual Review of Genetics
- Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I
- (2010) Christian Guelly et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Dynamin-related protein 1 and mitochondrial fragmentation in neurodegenerative diseases
- (2010) P. Hemachandra Reddy et al. BRAIN RESEARCH REVIEWS
- Mff is an essential factor for mitochondrial recruitment of Drp1 during mitochondrial fission in mammalian cells
- (2010) Hidenori Otera et al. JOURNAL OF CELL BIOLOGY
- Conformational changes in Dnm1 support a contractile mechanism for mitochondrial fission
- (2010) Jason A Mears et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- The dynamin-related GTPase Drp1 is required for embryonic and brain development in mice
- (2009) Junko Wakabayashi et al. JOURNAL OF CELL BIOLOGY
- Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice
- (2009) Naotada Ishihara et al. NATURE CELL BIOLOGY
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