A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease
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Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transportA new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.Dysfunctions of neuronal and glial intermediate filaments in diseaseRole of Intermediate Filaments in Vesicular TrafficStable tubule only polypeptides (STOP) proteins co-aggregate with spheroid neurofilaments in amyotrophic lateral sclerosisThe complex molecular biology of amyotrophic lateral sclerosis (ALS)Age-dependent induction of congophilic neurofibrillary tau inclusions in tau transgenic micePlasma neurofilament heavy chain levels correlate to markers of late stage disease progression and treatment response in SOD1(G93A) mice that model ALSLate onset of motor neurons in mice overexpressing wild-type peripherinDeficiency in ubiquitin ligase TRIM2 causes accumulation of neurofilament light chain and neurodegenerationRNA-binding protein is involved in aggregation of light neurofilament protein and is implicated in the pathogenesis of motor neuron degenerationMotor neuron disease--a review.Altered axonal architecture by removal of the heavily phosphorylated neurofilament tail domains strongly slows superoxide dismutase 1 mutant-mediated ALS.Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.Variations in the progranulin gene affect global gene expression in frontotemporal lobar degenerationNitric oxide-mediated oxidative damage and the progressive demise of motor neurons in ALS.Reduced number of unmyelinated sensory axons in peripherin null mice.Multiple neuron-specific enhancers in the gene coding for the human neurofilament light chain.The cytoskeleton in neurodegenerative diseases.Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.Genetic rodent models of amyotrophic lateral sclerosisFamilial amyotrophic lateral sclerosis.Amyotrophic lateral sclerosis: human challenge for neuroscienceThe mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1.Therapeutic developments in the treatment of amyotrophic lateral sclerosis.E46K human alpha-synuclein transgenic mice develop Lewy-like and tau pathology associated with age-dependent, detrimental motor impairmentMolecular and cellular pathways of neurodegeneration in motor neurone diseaseA novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.A Stochastic Multiscale Model That Explains the Segregation of Axonal Microtubules and Neurofilaments in Neurological Diseases.Alterations in G(1) to S phase cell-cycle regulators during amyotrophic lateral sclerosis.Amyotrophic lateral sclerosis: contemporary concepts in etiopathogenesis and pharmacotherapy.Increasing neurofilament subunit NF-M expression reduces axonal NF-H, inhibits radial growth, and results in neurofilamentous accumulation in motor neurons.Neurofilament subunit NF-H modulates axonal diameter by selectively slowing neurofilament transportProtective effect of neurofilament heavy gene overexpression in motor neuron disease induced by mutant superoxide dismutase.Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutantNeurofilaments and orthograde transport are reduced in ventral root axons of transgenic mice that express human SOD1 with a G93A mutationAge-related atrophy of motor axons in mice deficient in the mid-sized neurofilament subunit.Advanced glycation endproducts in neurofilament conglomeration of motoneurons in familial and sporadic amyotrophic lateral sclerosis.Elevated free nitrotyrosine levels, but not protein-bound nitrotyrosine or hydroxyl radicals, throughout amyotrophic lateral sclerosis (ALS)-like disease implicate tyrosine nitration as an aberrant in vivo property of one familial ALS-linked superoxFamilial amyotrophic lateral sclerosis with a point mutation of SOD-1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles.
P2860
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P2860
A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease
description
1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1994
@ast
im Oktober 1994 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1994/10/01)
@sk
vědecký článek publikovaný v roce 1994
@cs
wetenschappelijk artikel (gepubliceerd op 1994/10/01)
@nl
наукова стаття, опублікована в жовтні 1994
@uk
مقالة علمية (نشرت في أكتوبر 1994)
@ar
name
A mutant neurofilament subunit ...... of human motor neuron disease
@ast
A mutant neurofilament subunit ...... of human motor neuron disease
@en
A mutant neurofilament subunit ...... of human motor neuron disease
@nl
type
label
A mutant neurofilament subunit ...... of human motor neuron disease
@ast
A mutant neurofilament subunit ...... of human motor neuron disease
@en
A mutant neurofilament subunit ...... of human motor neuron disease
@nl
prefLabel
A mutant neurofilament subunit ...... of human motor neuron disease
@ast
A mutant neurofilament subunit ...... of human motor neuron disease
@en
A mutant neurofilament subunit ...... of human motor neuron disease
@nl
P3181
P1433
P1476
A mutant neurofilament subunit ...... of human motor neuron disease
@en
P2093
J R Marszalek
P304
P3181
P356
10.1016/0896-6273(94)90263-1
P407
P577
1994-10-01T00:00:00Z