Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport
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Dominant GDAP1 mutations cause predominantly mild CMT phenotypesDysfunctions of neuronal and glial intermediate filaments in diseaseCharcot-Marie-Tooth disease and intracellular trafficCryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyCharcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilamentsHDAC1 nuclear export induced by pathological conditions is essential for the onset of axonal damagePlectin isoform 1b mediates mitochondrion-intermediate filament network linkage and controls organelle shape.Intermediate filaments take the heat as stress proteins.Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.Mitochondrial membrane potential is regulated by vimentin intermediate filamentsA novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria.Mitochondria: the next (neurode)generationMolecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.Myelin injury induces axonal transport impairment but not AD-like pathology in the hippocampus of cuprizone-fed mice.Dysregulation of axonal transport and motorneuron diseases.The mitochondrial connection in auditory neuropathy.Neurofilamentopathy in neurodegenerative diseasesDisruption of axonal transport in motor neuron diseases.Review on intermediate filaments of the nervous system and their pathological alterations.Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.Neurofilaments and Neurofilament Proteins in Health and Disease.Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization.Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.Binocular pattern deprivation interferes with the expression of proteins involved in primary visual cortex maturation in the cat.Mitochondrial Membrane Potential-dependent Endoplasmic Reticulum Fragmentation is an Important Step in Neuritic Degeneration.Tau45-230 association with the cytoskeleton and membrane-bound organelles: Functional implications in neurodegeneration.Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.Cytoskeletal changes in diseases of the nervous system
P2860
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P2860
Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport
description
2005 nî lūn-bûn
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2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Mutations in the neurofilament ...... ase cause defects in transport
@ast
Mutations in the neurofilament ...... ase cause defects in transport
@en
Mutations in the neurofilament ...... ase cause defects in transport
@en-gb
Mutations in the neurofilament ...... ase cause defects in transport
@nl
type
label
Mutations in the neurofilament ...... ase cause defects in transport
@ast
Mutations in the neurofilament ...... ase cause defects in transport
@en
Mutations in the neurofilament ...... ase cause defects in transport
@en-gb
Mutations in the neurofilament ...... ase cause defects in transport
@nl
prefLabel
Mutations in the neurofilament ...... ase cause defects in transport
@ast
Mutations in the neurofilament ...... ase cause defects in transport
@en
Mutations in the neurofilament ...... ase cause defects in transport
@en-gb
Mutations in the neurofilament ...... ase cause defects in transport
@nl
P2093
P2860
P3181
P1476
Mutations in the neurofilament ...... ase cause defects in transport
@en
P2093
Dmitry Goryunov
Kristy Brown
Leonidas Stefanis
Miguel A López-Toledano
Noemi Cabrera-Poch
Raül Pérez-Ollé
Ronald K H Liem
P2860
P304
P3181
P356
10.1111/J.1471-4159.2005.03095.X
P407
P577
2005-05-01T00:00:00Z