Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations
about
Heart failure and mitochondrial dysfunction: the role of mitochondrial fission/fusion abnormalities and new therapeutic strategiesAn unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattleA mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover.A designed point mutant in Fis1 disrupts dimerization and mitochondrial fissionMutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansInsulin signaling regulates mitochondrial function in pancreatic beta-cellsThe optic nerve: a "mito-window" on mitochondrial neurodegenerationTwo rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila.Quantitative analysis of mitochondrial morphology and membrane potential in living cells using high-content imaging, machine learning, and morphological binning.MFN2 mutations cause severe phenotypes in most patients with CMT2A.The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family.Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.Central role of mitofusin 2 in autophagosome-lysosome fusion in cardiomyocytes.The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.Study of RNA Interference Targeting NET-1 Combination with Sorafenib for Hepatocellular Carcinoma Therapy In Vitro and In Vivo.Diagnosis of Charcot-Marie-Tooth disease.Neurodegeneration as a consequence of failed mitochondrial maintenance.Mitochondrial fusion proteins and human diseases.Mitochondrial Dynamics and Heart Failure.Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.Metabolic Stress and Disorders Related to Alterations in Mitochondrial Fission or Fusion.Ethambutol toxicity exacerbating the phenotype of CMT2A2.Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.Structure, function, and regulation of mitofusin-2 in health and disease.The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
P2860
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P2860
Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Mitochondrial fusion and funct ...... sts with mitofusin 2 mutations
@ast
Mitochondrial fusion and funct ...... sts with mitofusin 2 mutations
@en
type
label
Mitochondrial fusion and funct ...... sts with mitofusin 2 mutations
@ast
Mitochondrial fusion and funct ...... sts with mitofusin 2 mutations
@en
prefLabel
Mitochondrial fusion and funct ...... sts with mitofusin 2 mutations
@ast
Mitochondrial fusion and funct ...... sts with mitofusin 2 mutations
@en
P2093
P2860
P50
P1476
Mitochondrial fusion and funct ...... sts with mitofusin 2 mutations
@en
P2093
Elizabeth A Amiott
J Michael McCaffery
Jamie Soto
Janet M Shaw
Peter B Kang
Salvatore DiMauro
Victoria H Lawson
P2860
P304
P356
10.1016/J.EXPNEUROL.2008.01.010
P407
P577
2008-01-26T00:00:00Z