Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model
出版年份 2019 全文链接
标题
Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model
作者
关键词
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出版物
JOURNAL OF CLINICAL INVESTIGATION
Volume -, Issue -, Pages -
出版商
American Society for Clinical Investigation
发表日期
2019-03-18
DOI
10.1172/jci124194
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Mitofusin 2 Regulates Axonal Transport of Calpastatin to Prevent Neuromuscular Synaptic Elimination in Skeletal Muscles
- (2018) Luwen Wang et al. Cell Metabolism
- Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT2A neuropathy
- (2018) Najla El Fissi et al. EMBO REPORTS
- Mitochondria–lysosome contacts regulate mitochondrial fission via RAB7 GTP hydrolysis
- (2018) Yvette C. Wong et al. NATURE
- Structural basis for GTP hydrolysis and conformational change of MFN1 in mediating membrane fusion
- (2018) Liming Yan et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A
- (2018) Agostinho G. Rocha et al. SCIENCE
- Structural basis for GTP hydrolysis and conformational change of MFN1 in mediating membrane fusion
- (2018) Liming Yan et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease
- (2017) Bernadett Kalmar et al. HUMAN MOLECULAR GENETICS
- A new mitofusin topology places the redox-regulated C terminus in the mitochondrial intermembrane space
- (2017) Sevan Mattie et al. JOURNAL OF CELL BIOLOGY
- Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study
- (2017) Masahiro Ando et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- MFN1 structures reveal nucleotide-triggered dimerization critical for mitochondrial fusion
- (2017) Yu-Lu Cao et al. NATURE
- Mitostasis in Neurons: Maintaining Mitochondria in an Extended Cellular Architecture
- (2017) Thomas Misgeld et al. NEURON
- Zebrafish Tg(hb9:MTS-Kaede): a new in vivo tool for studying the axonal movement of mitochondria
- (2016) Giorgia Bergamin et al. BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
- Correcting mitochondrial fusion by manipulating mitofusin conformations
- (2016) Antonietta Franco et al. NATURE
- ALS disrupts spinal motor neuron maturation and aging pathways within gene co-expression networks
- (2016) Ritchie Ho et al. NATURE NEUROSCIENCE
- Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and Muscle
- (2016) Peter Bannerman et al. PLoS One
- Homozygous mutations inMFN2cause multiple symmetric lipomatosis associated with neuropathy
- (2015) Sarah L. Sawyer et al. HUMAN MOLECULAR GENETICS
- MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives
- (2015) Giulia Stuppia et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy
- (2015) Maria Tufano et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- Human iPSC-Derived Neural Progenitors Preserve Vision in an AMD-Like Model
- (2015) Yuchun Tsai et al. STEM CELLS
- Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model
- (2014) Alleene V. Strickland et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- Disturbed mitochondrial dynamics and neurodegenerative disorders
- (2014) Florence Burté et al. Nature Reviews Neurology
- Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease
- (2013) L. P. Bogdanik et al. Disease Models & Mechanisms
- PINK1-Phosphorylated Mitofusin 2 Is a Parkin Receptor for Culling Damaged Mitochondria
- (2013) Y. Chen et al. SCIENCE
- Mitofusins 1 and 2 Are Essential for Postnatal Metabolic Remodeling in Heart
- (2012) Kyriakos N. Papanicolaou et al. CIRCULATION RESEARCH
- The intracellular redox state is a core determinant of mitochondrial fusion
- (2012) Timothy Shutt et al. EMBO REPORTS
- Loss of Mfn2 results in progressive, retrograde degeneration of dopaminergic neurons in the nigrostriatal circuit
- (2012) Anh H. Pham et al. HUMAN MOLECULAR GENETICS
- Mitofusin 2 is necessary for striatal axonal projections of midbrain dopamine neurons
- (2012) Seungmin Lee et al. HUMAN MOLECULAR GENETICS
- Mitofusin2 Mutations Disrupt Axonal Mitochondrial Positioning and Promote Axon Degeneration
- (2012) A. L. Misko et al. JOURNAL OF NEUROSCIENCE
- Large Kindred Evaluation of Mitofusin 2 Novel Mutation, Extremes of Neurologic Presentations, and Preserved Nerve Mitochondria
- (2011) Christopher J. Klein ARCHIVES OF NEUROLOGY
- The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype
- (2011) C. Rouzier et al. BRAIN
- Axonal Charcot–Marie–Tooth disease
- (2011) Michael E. Shy et al. CURRENT OPINION IN NEUROLOGY
- Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease
- (2011) Benoit J. Gentil et al. FASEB JOURNAL
- Impaired mitochondrial dynamics and abnormal interaction of amyloid beta with mitochondrial protein Drp1 in neurons from patients with Alzheimer's disease: implications for neuronal damage
- (2011) Maria Manczak et al. HUMAN MOLECULAR GENETICS
- HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease
- (2011) Constantin d'Ydewalle et al. NATURE MEDICINE
- MFN2 mutations cause severe phenotypes in most patients with CMT2A
- (2011) S. M. E. Feely et al. NEUROLOGY
- Expression of mitofusin 2R94Q in a transgenic mouse leads to Charcot–Marie–Tooth neuropathy type 2A
- (2010) Romain Cartoni et al. BRAIN
- Mitochondrial Fusion Is Required for mtDNA Stability in Skeletal Muscle and Tolerance of mtDNA Mutations
- (2010) Hsiuchen Chen et al. CELL
- Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin
- (2010) Atsushi Tanaka et al. JOURNAL OF CELL BIOLOGY
- Mitofusin 2 Is Necessary for Transport of Axonal Mitochondria and Interacts with the Miro/Milton Complex
- (2010) A. Misko et al. JOURNAL OF NEUROSCIENCE
- PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1
- (2010) Sven Geisler et al. NATURE CELL BIOLOGY
- Non-Invasive Stem Cell Therapy in a Rat Model for Retinal Degeneration and Vascular Pathology
- (2010) Shaomei Wang et al. PLoS One
- A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
- (2010) Stephan J. Guyenet et al. Jove-Journal of Visualized Experiments
- Role of mitofusin 2 mutations in the physiopathology of Charcot–Marie–Tooth disease type 2A
- (2009) Romain Cartoni et al. EXPERIMENTAL NEUROLOGY
- Impaired Balance of Mitochondrial Fission and Fusion in Alzheimer's Disease
- (2009) X. Wang et al. JOURNAL OF NEUROSCIENCE
- Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations
- (2008) Knut Brockmann et al. JOURNAL OF NEUROLOGY
- Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated WithMitofusin 2Mutations
- (2008) Jean-Michel Vallat et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Mitofusin 2 tethers endoplasmic reticulum to mitochondria
- (2008) Olga Martins de Brito et al. NATURE
- Mitochondrial fragmentation in neurodegeneration
- (2008) Andrew B. Knott et al. NATURE REVIEWS NEUROSCIENCE
- Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction
- (2008) R. D. Bo et al. NEUROLOGY
- Severe early-onset axonal neuropathy with homozygous and compound heterozygousMFN2mutations
- (2008) G. A. Nicholson et al. NEUROLOGY
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