Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A.
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Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth diseaseAlterations in Mitochondrial Quality Control in Alzheimer's DiseaseCharcot-Marie-Tooth disease and intracellular trafficMitochondrial transport in neurons: impact on synaptic homeostasis and neurodegeneration.An 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.Correcting mitochondrial fusion by manipulating mitofusin conformations.Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complexMitochondrial morphogenesis, distribution, and Parkinson disease: insights from PINK1Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish.Mitofusin 2 is required to maintain mitochondrial coenzyme Q levels.Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and MuscleMolecular genetics of charcot-marie-tooth disease: from genes to genomes.Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutationsImpairing the mitochondrial fission and fusion balance: a new mechanism of neurodegeneration.Inherited mitochondrial optic neuropathies.Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age.Transient systemic mtDNA damage leads to muscle wasting by reducing the satellite cell poolReduction of endoplasmic reticulum stress attenuates the defects caused by Drosophila mitofusin depletion.Less than perfect divorces: dysregulated mitochondrial fission and neurodegeneration.Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.Mitochondrial biogenesis and dynamics in neurodegeneration: a causative relationship.Mitochondrial dynamic changes in health and genetic diseases.Disturbed mitochondrial dynamics and neurodegenerative disorders.Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model.Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.Direct Lineage Reprogramming Reveals Disease-Specific Phenotypes of Motor Neurons from Human ALS Patients.Structure, function, and regulation of mitofusin-2 in health and disease.Genetic epidemiology of Charcot-Marie-Tooth disease.Oral health, temporomandibular disorder, and masticatory performance in patients with Charcot-Marie-Tooth type 2.Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease
P2860
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P2860
Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Hindlimb gait defects due to m ...... f Charcot-Marie-Tooth type 2A.
@en
Hindlimb gait defects due to m ...... f Charcot-Marie-Tooth type 2A.
@nl
type
label
Hindlimb gait defects due to m ...... f Charcot-Marie-Tooth type 2A.
@en
Hindlimb gait defects due to m ...... f Charcot-Marie-Tooth type 2A.
@nl
prefLabel
Hindlimb gait defects due to m ...... f Charcot-Marie-Tooth type 2A.
@en
Hindlimb gait defects due to m ...... f Charcot-Marie-Tooth type 2A.
@nl
P2093
P356
P1476
Hindlimb gait defects due to m ...... f Charcot-Marie-Tooth type 2A.
@en
P2093
Christine Vande Velde
David C Chan
Don W Cleveland
Scott A Detmer
P304
P356
10.1093/HMG/DDM314
P577
2007-10-24T00:00:00Z