Associated Papers
Haplotype editing with CRISPR-Cas9 as a therapeutic approach for dominant-negative missense mutations in NEFL.
Dua PH et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Novel neurofilament light (Nefl) E397K mouse models of Charcot-Marie-tooth type 2E (CMT2E) present early and chronic axonal neuropathy.
Pérez-López DO et al.
Human Molecular Genetics, 2025
The NeflE397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2E.
Pérez-López DO et al.
Human Molecular Genetics, 2025
Novel neurofilament light (Nefl) E397K mouse models of Charcot-Marie-Tooth type 2E (CMT2E) present early and chronic axonal neuropathy.
Pérez-López DO et al.
Biorxiv : the Preprint Server for Biology, 2025
The Nefl E397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2E.
Pérez-López DO et al.
Biorxiv : the Preprint Server for Biology, 2025
Current Treatment Methods for Charcot-Marie-Tooth Diseases.
Dong H et al.
Biomolecules, 2024
O-GlcNAcylation regulates neurofilament-light assembly and function and is perturbed by Charcot-Marie-Tooth disease mutations.
Huynh DT et al.
Nature Communications, 2023
O-GlcNAcylation regulates neurofilament-light assembly and function and is perturbed by Charcot-Marie-Tooth disease mutations.
Huynh DT et al.
Biorxiv : the Preprint Server for Biology, 2023
Neurofilaments in health and Charcot-Marie-Tooth disease.
Kotaich F et al.
Frontiers in Cell and Developmental Biology, 2023
The 2022 Lady Estelle Wolfson lectureship on neurofilaments.
Petzold A
Journal of Neurochemistry, 2022
Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease.
Nguyen-Le TH et al.
Brain and Behavior, 2022
Mutations linked to neurological disease enhance self-association of low-complexity protein sequences.
Zhou X et al.
Science (new York, N.y.), 2022
A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L.
Stone EJ et al.
Cytoskeleton (hoboken, N.j.), 2021
Transiently structured head domains control intermediate filament assembly.
Zhou X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease.
Machado R et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2019
Charcot-Marie-Tooth disease Type 2E/1F mutant neurofilament proteins assemble into neurofilaments.
Stone EJ et al.
Cytoskeleton (hoboken, N.j.), 2019
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 2019
The role of neurofilament aggregation in neurodegeneration: lessons from rare inherited neurological disorders.
Didonna A et al.
Molecular Neurodegeneration, 2019
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.
Lerat J et al.
Journal of the Peripheral Nervous System : Jpns, 2019
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E.
Lancaster E et al.
Experimental Neurology, 2018
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Neurofilaments and Neurofilament Proteins in Health and Disease.
Yuan A et al.
Cold Spring Harbor Perspectives in Biology, 2017
Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E.
Villalón E et al.
Genes, Brain, and Behavior, 2017
Exacerbation of Charcot-Marie-Tooth type 2E neuropathy following traumatic nerve injury.
Villalón E et al.
Brain Research, 2015
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
Adebola AA et al.
Human Molecular Genetics, 2015
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
Manganelli F et al.
Journal of the Peripheral Nervous System : Jpns, 2014
Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs.
Hashiguchi A et al.
Journal of the Peripheral Nervous System : Jpns, 2014
Heterogeneity in the properties of NEFL mutants causing Charcot-Marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol.
Gentil BJ et al.
The International Journal of Biochemistry & Cell Biology, 2013
Defective axonal transport of Rab7 GTPase results in dysregulated trophic signaling.
Zhang K et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013
Molecular basis of axonal dysfunction and traffic impairments in CMT.
Gentil BJ et al.
Brain Research Bulletin, 2012
Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E.
Dale JM et al.
Genes, Brain, and Behavior, 2012
MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis.
Choi BO et al.
International Journal of Molecular Medicine, 2011
Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E.
Shen H et al.
Human Molecular Genetics, 2011
Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E.
Filali M et al.
Behavioural Brain Research, 2011
The mitochondrial connection in auditory neuropathy.
Cacace AT et al.
Audiology & Neuro-otology, 2011
Neurofilamentopathy in neurodegenerative diseases.
Liu Q et al.
The Open Neurology Journal, 2011
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
Lin KP et al.
Plos One, 2011
Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E.
Dequen F et al.
Human Molecular Genetics, 2010
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
Yum SW et al.
Annals of Neurology, 2009
The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy.
Bhagavati S et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2009
Mitochondrial and axonal abnormalities precede disruption of the neurofilament network in a model of charcot-marie-tooth disease type 2E and are prevented by heat shock proteins in a mutant-specific fashion.
Tradewell ML et al.
Journal of Neuropathology and Experimental Neurology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
The effect of rod domain A148V mutation of neurofilament light chain on filament formation.
Lee IB et al.
Bmb Reports, 2008
Auditory nerve is affected in one of two different point mutations of the neurofilament light gene.
Butinar D et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2008
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.
Mandich P et al.
Journal of Human Genetics, 2008
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
Shin JS et al.
Journal of Human Genetics, 2008
New movements in neurofilament transport, turnover and disease.
Barry DM et al.
Experimental Cell Research, 2007